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GeneBe

LKAAEAR1

LKAAEAR motif containing 1

Basic information

Region (hg38): 20:64083375-64084398

Previous symbols: [ "C20orf201" ]

Links

ENSG00000171695NCBI:198437HGNC:33718Uniprot:Q8TD35AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the LKAAEAR1 gene.

  • Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LKAAEAR1 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
0
missense
13
clinvar
1
clinvar
14
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 1 0

Variants in LKAAEAR1

This is a list of pathogenic ClinVar variants found in the LKAAEAR1 region.

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

Position Type Phenotype Significance ClinVar
20-64083423-T-G not specified Uncertain significance (Jul 25, 2023)2613601
20-64083424-C-G not specified Uncertain significance (Nov 14, 2023)2355415
20-64083564-T-C not specified Uncertain significance (Sep 27, 2021)2389483
20-64083566-C-G not specified Uncertain significance (Aug 22, 2023)2621366
20-64083569-G-A not specified Uncertain significance (Sep 16, 2021)2351165
20-64083585-C-T not specified Uncertain significance (Jul 19, 2023)2612648
20-64083605-G-A not specified Uncertain significance (Feb 27, 2024)3119135
20-64083656-G-T not specified Uncertain significance (Aug 13, 2021)2358663
20-64083674-T-C not specified Uncertain significance (Nov 13, 2023)3119134
20-64083684-T-A not specified Uncertain significance (Jul 13, 2021)2377283
20-64083697-C-G not specified Uncertain significance (Jun 23, 2023)2606084
20-64083910-C-T not specified Uncertain significance (Sep 23, 2023)3119133
20-64083922-G-T not specified Uncertain significance (Nov 23, 2021)2262211
20-64083946-C-T not specified Uncertain significance (Dec 15, 2023)3119132
20-64083954-C-A not specified Uncertain significance (Sep 13, 2023)2599214
20-64083963-G-A not specified Likely benign (Jun 16, 2023)2604425
20-64083993-G-T not specified Uncertain significance (Feb 03, 2022)2224211
20-64084065-G-A not specified Uncertain significance (Feb 05, 2024)3119131
20-64084105-G-A not specified Uncertain significance (Apr 25, 2022)2357335

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
LKAAEAR1protein_codingprotein_codingENST00000308906 2980
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02520.57500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5287386.80.8410.000004111417
Missense in Polyphen1522.4810.66723410
Synonymous0.5293640.30.8940.00000200547
Loss of Function0.0060322.010.9959.05e-846

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.285
ghis
0.463

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Lkaaear1
Phenotype