SLC22A10

solute carrier family 22 member 10, the group of Solute carrier family 22

Basic information

Region (hg38): 11:63268022-63311783

Links

ENSG00000184999NCBI:387775OMIM:607580HGNC:18057Uniprot:Q63ZE4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC22A10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC22A10 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
28
clinvar
1
clinvar
29
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 28 2 0

Variants in SLC22A10

This is a list of pathogenic ClinVar variants found in the SLC22A10 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-63290194-T-C not specified Uncertain significance (Oct 12, 2022)2383446
11-63290239-T-G not specified Uncertain significance (May 13, 2024)3319054
11-63290310-T-A not specified Uncertain significance (Feb 13, 2024)3163321
11-63290388-A-G not specified Uncertain significance (Sep 06, 2022)2310145
11-63290403-G-C not specified Uncertain significance (Aug 02, 2022)2304723
11-63290430-C-T not specified Uncertain significance (May 14, 2024)3319052
11-63290442-C-A not specified Uncertain significance (Jan 09, 2024)3163322
11-63290505-G-A not specified Uncertain significance (Dec 22, 2023)3163323
11-63290506-A-G not specified Uncertain significance (Mar 04, 2024)3163324
11-63290513-T-G not specified Uncertain significance (Feb 26, 2024)3163325
11-63291625-G-A not specified Uncertain significance (Feb 28, 2023)2490719
11-63291642-A-T not specified Uncertain significance (Feb 27, 2023)2470036
11-63297311-G-A not specified Uncertain significance (May 18, 2023)2568713
11-63297364-G-A not specified Uncertain significance (Aug 17, 2022)2390049
11-63297391-T-G not specified Uncertain significance (Mar 06, 2023)2494517
11-63297407-T-C not specified Uncertain significance (May 11, 2022)2289223
11-63297411-G-C not specified Uncertain significance (Jan 23, 2024)3163326
11-63297433-A-T not specified Uncertain significance (Jun 07, 2023)2507576
11-63297437-T-C not specified Uncertain significance (Apr 24, 2024)3319053
11-63297452-T-C not specified Uncertain significance (Sep 01, 2021)2248090
11-63297660-T-C not specified Uncertain significance (Oct 17, 2023)3163327
11-63297664-G-A not specified Uncertain significance (Feb 05, 2024)3163328
11-63297691-C-T not specified Likely benign (Dec 08, 2021)2262876
11-63297692-G-A Likely benign (Mar 01, 2023)2641899
11-63298999-C-A not specified Uncertain significance (Sep 21, 2023)3163329

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLC22A10protein_codingprotein_codingENST00000332793 10231852
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.89e-190.0008903055734513606681257380.507
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.8353392981.140.00001543493
Missense in Polyphen7167.8071.0471862
Synonymous-2.071331061.260.000005211124
Loss of Function-0.5462724.11.120.00000132268

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.8030.804
Ashkenazi Jewish0.4480.447
East Asian0.4220.420
Finnish0.6060.603
European (Non-Finnish)0.5760.569
Middle Eastern0.4220.420
South Asian0.4520.445
Other0.5310.526

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.700
rvis_EVS
1.85
rvis_percentile_EVS
97.12

Haploinsufficiency Scores

pHI
0.0259
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0699

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Gene ontology

Biological process
transmembrane transport
Cellular component
integral component of membrane
Molecular function
transmembrane transporter activity