chr13:20763626:C>A Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,626-20,763,626
hg38 chr13:20,189,487-20,189,487 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.95G>T NP_003995.2:p.Arg32Leu
Ensemble ENST00000382844.2:c.95G>T ENST00000382844.2:p.Arg32Leu
ENST00000382848.5:c.95G>T ENST00000382848.5:p.Arg32Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 121011 OMIM
HGNC 4284 HGNC
Ensembl ENSG00000165474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2017-03-06 no assertion criteria provided Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Likely pathogenic 2014-04-22 no assertion criteria provided germline Detail
Pathogenic Likely pathogenic 2024-01-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-04-21 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2021-08-06 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) AND multiple conditions ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs111033190 dbSNP
Genome
hg19
Position
chr13:20,763,626-20,763,626
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121354
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1201773324323876E-5
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