chr13:20189443:C>A Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,582-20,763,582 View the variant detail on this assembly version.
hg38 chr13:20,189,443-20,189,443

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.139G>T NP_003995.2:p.Glu47Ter
Ensemble ENST00000382844.2:c.139G>T ENST00000382844.2:p.Glu47Ter
ENST00000382848.5:c.139G>T ENST00000382848.5:p.Glu47Ter
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 2023-06-02 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline maternal unknown Detail
Pathogenic 2024-01-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-04-12 criteria provided, multiple submitters, no conflicts germline Detail
Pathogenic 2019-11-27 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2021-07-31 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal recessive nonsyndromic hearing loss 1A unknown Detail
Pathogenic 2017-01-10 no assertion criteria provided germline Detail
Pathogenic 2020-08-21 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.595 Pendred's syndrome Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a co... BeFree 22429511 Detail
0.001 Pendred's syndrome Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a co... BeFree 22429511 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural A total of 25 families with non-syndromic hearing loss were screened for the com... BeFree 22429511 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) AND Nonsyndromic genetic hearing loss ClinVar Detail
NA DisGeNET Detail
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisia... DisGeNET Detail
Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisia... DisGeNET Detail
A total of 25 families with non-syndromic hearing loss were screened for the common p.E47X mutation ... 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
rs104894398 dbSNP
Genome
hg38
Position
chr13:20,189,443-20,189,443
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8652
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)
121236
Allele Counts in All Race (ExAC)
18
Heterozygous Counts in All Race (ExAC)
18
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4847075126200139E-4
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