chr12-112489068-C-T

Variant summary

Our verdict is Pathogenic. Variant got 17 ACMG points: 17P and 0B. PM1PM5PP2PP3_StrongPP5_Very_Strong

The NM_002834.5(PTPN11):​c.1492C>T​(p.Arg498Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,956 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R498L) has been classified as Pathogenic.

Frequency

Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000062 ( 0 hom. )

Consequence

PTPN11
NM_002834.5 missense

Scores

15
4
1

Clinical Significance

Pathogenic criteria provided, multiple submitters, no conflicts P:23O:1

Conservation

PhyloP100: 2.30
Variant links:
Genes affected
PTPN11 (HGNC:9644): (protein tyrosine phosphatase non-receptor type 11) The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Pathogenic. Variant got 17 ACMG points.

PM1
In a helix (size 8) in uniprot entity PTN11_HUMAN there are 7 pathogenic changes around while only 0 benign (100%) in NM_002834.5
PM5
Other missense variant is known to change same aminoacid residue: Variant chr12-112489069-G-T is described in Lovd as [Pathogenic].
PP2
Missense variant in the PTPN11 gene, where missense mutations are typically associated with disease (based on misZ statistic). The gene has 131 curated pathogenic missense variants (we use a threshold of 10). The gene has 13 curated benign missense variants. Gene score misZ: 3.1293 (above the threshold of 3.09). Trascript score misZ: 4.9438 (above the threshold of 3.09). GenCC associations: The gene is linked to Noonan syndrome and Noonan-related syndrome, Noonan syndrome with multiple lentigines, metachondromatosis, Noonan syndrome 1, Noonan syndrome, cardiofaciocutaneous syndrome, LEOPARD syndrome 1, Costello syndrome.
PP3
MetaRNN computational evidence supports a deleterious effect, 0.988
PP5
Variant 12-112489068-C-T is Pathogenic according to our data. Variant chr12-112489068-C-T is described in ClinVar as [Pathogenic]. Clinvar id is 40553.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars. Variant chr12-112489068-C-T is described in Lovd as [Pathogenic]. Variant chr12-112489068-C-T is described in Lovd as [Pathogenic].

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
PTPN11NM_002834.5 linkc.1492C>T p.Arg498Trp missense_variant Exon 13 of 16 ENST00000351677.7 NP_002825.3 Q06124-2
PTPN11NM_001330437.2 linkc.1504C>T p.Arg502Trp missense_variant Exon 13 of 16 NP_001317366.1 Q06124-1
PTPN11NM_001374625.1 linkc.1489C>T p.Arg497Trp missense_variant Exon 13 of 16 NP_001361554.1
PTPN11XM_011538613.3 linkc.1501C>T p.Arg501Trp missense_variant Exon 13 of 16 XP_011536915.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
PTPN11ENST00000351677.7 linkc.1492C>T p.Arg498Trp missense_variant Exon 13 of 16 1 NM_002834.5 ENSP00000340944.3 Q06124-2
PTPN11ENST00000635625.1 linkc.1504C>T p.Arg502Trp missense_variant Exon 13 of 15 5 ENSP00000489597.1 Q06124-1
PTPN11ENST00000635652.1 linkc.505C>T p.Arg169Trp missense_variant Exon 5 of 5 3 ENSP00000489541.1 A0A0U1RRI0

Frequencies

GnomAD3 genomes
AF:
0.00000657
AC:
1
AN:
152162
Hom.:
0
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000147
Gnomad OTH
AF:
0.00
GnomAD3 exomes
AF:
0.00000398
AC:
1
AN:
251490
Hom.:
0
AF XY:
0.00000736
AC XY:
1
AN XY:
135918
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.00000879
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.00000616
AC:
9
AN:
1461794
Hom.:
0
Cov.:
32
AF XY:
0.00000275
AC XY:
2
AN XY:
727194
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.0000116
Gnomad4 FIN exome
AF:
0.0000187
Gnomad4 NFE exome
AF:
0.00000450
Gnomad4 OTH exome
AF:
0.0000331
GnomAD4 genome
AF:
0.00000657
AC:
1
AN:
152162
Hom.:
0
Cov.:
32
AF XY:
0.00
AC XY:
0
AN XY:
74328
show subpopulations
Gnomad4 AFR
AF:
0.00
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000147
Gnomad4 OTH
AF:
0.00
Bravo
AF:
0.0000113

ClinVar

Significance: Pathogenic
Submissions summary: Pathogenic:23Other:1
Revision: criteria provided, multiple submitters, no conflicts
LINK: link

Submissions by phenotype

Noonan syndrome 1 Pathogenic:5
Dec 21, 2023
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0103 - Both loss of function and gain of function are known mechanisms of disease for this gene. Metachondromatosis (MIM#156250) and Noonan syndrome with multiple lentigines have been associated with loss of function variants, whereas Noonan syndrome 1 (MIM#163950) is caused by gain of function variants (PMIDs: 11992261, 24935154, 21533187; ClinGen expert panel). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Noonan syndrome is known to have variable expressivity (GeneReviews). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to tryptophan. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v2, v3) <0.001 for a dominant condition (2 heterozygotes, 0 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0602 - Variant is located in a hotspot region or cluster of pathogenic variants (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported many times as pathogenic, and has been observed in individuals with LEOPARD syndrome or Noonan syndrome (ClinVar). (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign -

Oct 01, 2021
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

PM1, PM2, PM5, PP2, PP3, PP5 -

Jan 15, 2024
Baylor Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Nov 13, 2018
Institute of Human Genetics, University of Leipzig Medical Center
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

-
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

not provided Pathogenic:5
Jan 05, 2022
GeneDx
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

Published functional studies demonstrate that the resulting protein is catalytically impaired, has significantly reduced basal activity, and has a reduced response to stimulation with phosphotyrosol (Edwards et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; The majority of missense variants in this gene are considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 29693080, 17056636, 30417923, 30732632, 32059087, 15121796, 24891296, 23239957, 16369799, 15928039, 20301557, 27562378, 24803665, 29356064, 29988639, 21533187, 9222968, 27521173, 11704759, 12960218, 19206169, 21500339, 24935154, 17875892, 18241070, 17339163, 26918529, 31219622, 22190897, 31370276, 33318624, 34008892, 32746448, 33726816, 29493581, 27535533) -

Oct 18, 2023
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

The PTPN11 c.1492C>T; p.Arg498Trp variant (rs397507541) is reported in the literature in multiple individuals diagnosed with Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome 1) or Noonan syndrome (Chen 2019, Giugliano 2019, Hakami 2016, Kauffman 2021, Li 2019, Marinakis 2021, Sarkozy 2004). This variant is also reported in ClinVar (Variation ID: 40553). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. Additionally, another amino acid substitution at this codon (c.1493G>T; p.Arg498Leu) has been reported in individuals with Noonan syndrome with multiple lentigines or Noonan syndrome, and is considered pathogenic (Hung 2007, Limongelli 2008, Sarkozy 2004). In vitro functional analyses of the variant protein demonstrate loss of phosphatase activity, consistent with established disease mechanisms of Noonan syndrome with multiple lentigines (Gelb 2007, Rauen 2013). Computational analyses predict that this variant is deleterious (REVEL: 0.849). Based on available information, this variant is considered to be pathogenic. References: Chen H et al. Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet J Rare Dis. 2019 Feb 7;14(1):29. PMID: 30732632. Edwards JJ et al. A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. Am J Med Genet A. 2014 Sep;164A(9):2351-5. PMID: 24891296. Giugliano T et al. Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders. Genes (Basel). 2019 Jul 31;10(8):580. PMID: 31370276. Gelb BD and Tartaglia M. Noonan Syndrome with Multiple Lentigines. 2007 Nov 30 [updated 2022 Jun 30]. GeneReviews® [Internet]. 1993–2023. PMID: 20301557. Hakami F et al. Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. Prenat Diagn. 2016 May;36(5):418-23. PMID: 26918529. Hung CS et al. Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. J Formos Med Assoc. 2007 Feb;106(2):169-72. PMID: 17339163. Kauffman H et al. Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines. Pediatr Res. 2021 Aug;90(2):444-451. PMID: 33318624. Li X et al. Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clin Genet. 2019 Oct;96(4):290-299. PMID: 31219622. Limongelli G et al. Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet A. 2008 Mar 1;146A(5):620-8. PMID: 18241070. Marinakis NM et al. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. Am J Med Genet A. 2021 Aug;185(8):2561-2571. PMID: 34008892. Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet. 2013;14:355-69. PMID: 23875798. Sarkozy A et al. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet. 2004 May;41(5):e68. PMID: 15121796. -

Jan 11, 2023
Mayo Clinic Laboratories, Mayo Clinic
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

PP2, PP3, PM5, PS2, PS3_moderate, PS4 -

Jan 01, 2021
CeGaT Center for Human Genetics Tuebingen
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Aug 12, 2022
Revvity Omics, Revvity
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

LEOPARD syndrome 1 Pathogenic:3Other:1
Feb 06, 2024
Baylor Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Jan 03, 2022
3billion, Medical Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000040553, PS1_S). The variant is located in a well-established functional domain or exonic hotspot, where pathogenic variants have frequently reported (PM1_M). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000040554, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.849, 3CNET: 0.858, PP3_P). A missense variant is a common mechanism associated with LEOPARD syndrome 1 (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. -

-
GeneReviews
Significance: not provided
Review Status: no classification provided
Collection Method: literature only

- -

Aug 27, 2019
Centre for Mendelian Genomics, University Medical Centre Ljubljana
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3. -

Juvenile myelomonocytic leukemia;C0410530:Metachondromatosis;C4551484:LEOPARD syndrome 1;C4551602:Noonan syndrome 1 Pathogenic:2
-
Juno Genomics, Hangzhou Juno Genomics, Inc
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

PP2+PP3+PM6+PS4+PM1 -

Oct 26, 2021
Fulgent Genetics, Fulgent Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Cardiovascular phenotype Pathogenic:2
Apr 11, 2023
Ambry Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

The p.R498W pathogenic mutation (also known as c.1492C>T), located in coding exon 13 of the PTPN11 gene, results from a C to T substitution at nucleotide position 1492. The arginine at codon 498 is replaced by tryptophan, an amino acid with dissimilar properties. This variant has been detected in multiple unrelated individuals reported to have Noonan syndrome (NS) or Noonan syndrome with multiple lentigines (NSML) or features consistent with NS/NSML, including reported de novo occurrences, and has been reported to segregate with disease features in families (Sarkozy A et al. J Med Genet, 2004 May;41:e68; Kratz CP et al. Blood, 2005 Sep;106:2183-5; Lepri FR et al. BMC Med Genet, 2014 Jan;15:14; Edwards JJ et al. Am J Med Genet A, 2014 Sep;164A:2351-5; Ramos-Geldres TT et al. Actas Dermosifiliogr, 2015 May;106:e19-22; Bademci G et al. Sci Rep, 2016 Aug;6:31622; Hakami F et al. Prenat Diagn, 2016 May;36:418-23; McDonald BS et al. Clin Exp Dermatol, 2018 Apr;43:357-359; Bulteel C et al. JAAD Case Rep, 2018 May;4:390-391; Giugliano T et al. Genes (Basel), 2019 Jul;10; Li X et al. Clin Genet, 2019 Oct;96:290-299; Bessis D et al. Br J Dermatol, 2019 Jun;180:1438-1448; Kauffman H et al. Pediatr Res, 2021 Aug;90:444-451; Swarts JW et al. Am J Med Genet A, 2022 Nov;188:3242-3261). In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this variant is expected to be causative of PTPN11-related RASopathy; however, its clinical significance for metachondromatosis is unclear. -

-
Institute of Human Genetics, Medical University Innsbruck
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

RASopathy Pathogenic:2
Jan 29, 2025
Labcorp Genetics (formerly Invitae), Labcorp
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 498 of the PTPN11 protein (p.Arg498Trp). This variant is present in population databases (rs397507541, gnomAD 0.0009%). This missense change has been observed in individual(s) with Noonan syndrome with multiple lentigines and PTPN11-related conditions (PMID: 15121796, 22190897, 24891296, 27562378; internal data). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 40553). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PTPN11 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects PTPN11 function (PMID: 24891296). This variant disrupts the p.Arg498 amino acid residue in PTPN11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 15121796, 17339163, 17875892, 18241070, 24935154). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. -

-
Baylor Genetics
Significance: Pathogenic
Review Status: no assertion criteria provided
Collection Method: clinical testing

Variant classified using ACMG guidelines -

Metachondromatosis Pathogenic:1
Feb 06, 2024
Baylor Genetics
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

PTPN11-related disorder Pathogenic:1
Jul 23, 2024
PreventionGenetics, part of Exact Sciences
Significance: Pathogenic
Review Status: no assertion criteria provided
Collection Method: clinical testing

The PTPN11 c.1492C>T variant is predicted to result in the amino acid substitution p.Arg498Trp. This variant has been reported to be causative for Noonan spectrum disorders (see for example, Sarkozy et al. 2004. PubMed ID: 15121796). Functional studies demonstrate this variant results in reduced phosphatase activity (Edwards et al. 2014. PubMed ID: 24891296). This variant is also interpreted by multiple clinical labs as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/40553/). This variant is reported in 0.00088% of alleles in individuals of European (non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic. -

Noonan syndrome;C0175704:Noonan syndrome with multiple lentigines Pathogenic:1
Oct 06, 2016
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

The p.Arg498Trp variant in PTPN11 has been identified in at least 10 individuals with clinical features of LEOPARD syndrome (LS) or Noonan syndrome with or with out myeloproliferative disorder, and segregated with clinical features in famili es (NS/MPD; Kratz 2005, Kratz 2006, Sarkozy 2004, LMM data). It has not been ide ntified in large population studies. Missense variants in PTPN11 are strongly as sociated with Noonan spectrum disorders, and another variant (p.Arg498Leu) affec ting the same amino acid residue is known pathogenic. In summary, this variant m eets criteria to be classified as pathogenic for autosomal dominant Noonan spect rum disorders. -

Noonan syndrome and Noonan-related syndrome Pathogenic:1
Jun 01, 2020
Genome Diagnostics Laboratory, The Hospital for Sick Children
Significance: Pathogenic
Review Status: criteria provided, single submitter
Collection Method: clinical testing

- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
AlphaMissense
Pathogenic
1.0
CardioboostCm
Pathogenic
0.99
BayesDel_addAF
Pathogenic
0.47
D
BayesDel_noAF
Pathogenic
0.44
CADD
Pathogenic
33
DANN
Pathogenic
1.0
DEOGEN2
Pathogenic
0.97
.;D;.
Eigen
Pathogenic
0.95
Eigen_PC
Pathogenic
0.80
FATHMM_MKL
Uncertain
0.92
D
LIST_S2
Uncertain
0.94
D;D;D
M_CAP
Uncertain
0.29
D
MetaRNN
Pathogenic
0.99
D;D;D
MetaSVM
Pathogenic
1.0
D
MutationAssessor
Pathogenic
4.8
.;H;.
PrimateAI
Pathogenic
0.90
D
PROVEAN
Pathogenic
-7.6
D;.;.
REVEL
Pathogenic
0.85
Sift
Pathogenic
0.0
D;.;.
Sift4G
Uncertain
0.016
D;D;D
Polyphen
1.0
D;.;.
Vest4
0.98
MutPred
0.98
Loss of disorder (P = 0.0078);.;.;
MVP
0.97
MPC
1.3
ClinPred
1.0
D
GERP RS
4.1
RBP_binding_hub_radar
0.0
RBP_regulation_power_radar
1.7
Varity_R
0.98
gMVP
0.99

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs397507541; hg19: chr12-112926872; COSMIC: COSV61005566; COSMIC: COSV61005566; API