chr13:20763691:C> Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,691-20,763,691
hg38 chr13:20,189,552-20,189,552 

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.30delG NP_003995.2:p.Gly12ValfsTer2
Ensemble ENST00000382848.5:c.30delG ENST00000382848.5:p.Gly12ValfsTer2
ENST00000382844.2:c.30delG ENST00000382844.2:p.Gly12ValfsTer2
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
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
Pathogenic 2024-03-26 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A biparental germline inherited maternal unknown Detail
Pathogenic 2012-10-05 no assertion criteria provided Deafness, digenic, GJB2/GJB6 germline Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided biparental germline unknown Detail
Pathogenic 2021-04-12 criteria provided, multiple submitters, no conflicts germline inherited maternal unknown Detail
Pathogenic 2018-09-20 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2019-06-11 criteria provided, multiple submitters, no conflicts Autosomal dominant nonsyndromic hearing loss 3A germline unknown Detail
Pathogenic 2014-04-12 criteria provided, single submitter unknown Detail
Pathogenic 2016-01-04 no assertion criteria provided unknown Detail
Pathogenic 2014-10-01 criteria provided, single submitter unknown Detail
Pathogenic 2015-01-13 criteria provided, single submitter unknown Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,palmoplantar keratoderma-deafness syndrome germline Detail
not provided no assertion provided Nonsyndromic Hearing Loss, Recessive maternal unknown Detail
Pathogenic 2021-09-02 criteria provided, single submitter Deafness germline Detail
Pathogenic 2022-12-02 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2017-02-22 no assertion criteria provided germline Detail
Pathogenic 2022-06-23 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1B,Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2016-09-21 criteria provided, single submitter Hearing loss, autosomal recessive germline inherited Detail
Pathogenic no assertion criteria provided Knuckle pads, deafness AND leukonychia syndrome germline Detail
Pathogenic 2021-07-10 criteria provided, single submitter Ear malformation germline Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2021-10-05 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome unknown Detail
Pathogenic 2023-05-11 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 104 germline Detail
Pathogenic 2023-08-03 criteria provided, single submitter GJB2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.120 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Deafness, digenic, GJB2/GJB6 ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Severe sensorineural hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Bilateral sensorineural hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Nonsyndromic Hearing Loss, Recessive ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Deafness ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Inborn genetic diseases ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Hearing loss, autosomal recessive ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Knuckle pads, deafness AND leukonychia syndrome ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Ear malformation ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND Autosomal recessive nonsyndromic hearing loss 104 ClinVar Detail
NM_004004.6(GJB2):c.35del (p.Gly12fs) AND GJB2-related disorder ClinVar Detail
NA DisGeNET 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
rs80338939 dbSNP
Genome
hg19
Position
chr13:20,763,691-20,763,691
Variant Type
snv
Reference Allele
C
Alternative Allele
-
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)
121352
Allele Counts in All Race (ExAC)
733
Heterozygous Counts in All Race (ExAC)
727
Homozygous Counts in All Race (ExAC)
3
Allele Frequency in All Race (ExAC)
0.006040279517436878
Genome browser