chr13:20763573:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,573-20,763,573
hg38 chr13:20,189,434-20,189,434 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.148G>A NP_003995.2:p.Asp50Asn
Ensemble ENST00000382848.5:c.148G>A ENST00000382848.5:p.Asp50Asn
ENST00000382844.2:c.148G>A ENST00000382844.2:p.Asp50Asn
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000083
(TMGS000166) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2009-03-01 no assertion criteria provided Autosomal dominant keratitis-ichthyosis-hearing loss syndrome germline Detail
Pathogenic 2009-03-01 no assertion criteria provided Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2023-12-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2006-10-17 no assertion criteria provided germline Detail
Pathogenic 2020-01-06 no assertion criteria provided Sensorineural hearing loss disorder germline Detail
Pathogenic 2022-02-15 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome germline Detail
Pathogenic 2022-02-15 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter Mutilating keratoderma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.328 Senter syndrome Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia k... UNIPROT 11912510 Detail
0.360 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS NA CLINVAR Detail
0.125 keratitis Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients wi... BeFree 23924173 Detail
0.328 Senter syndrome Collectively, these data provide insight into Cx26 structure-function and the un... BeFree 23797419 Detail
<0.001 Dandy-Walker syndrome Dandy-Walker malformation in patients with KID syndrome associated with a hetero... BeFree 19793313 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Collectively, these data provide insight into Cx26 structure-function and the un... BeFree 23797419 Detail
0.328 Senter syndrome Dandy-Walker malformation in patients with KID syndrome associated with a hetero... BeFree 19793313 Detail
0.360 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia k... UNIPROT 11912510 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients wi... BeFree 23924173 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Dandy-Walker malformation in patients with KID syndrome associated with a hetero... BeFree 19793313 Detail
0.328 Senter syndrome Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients wi... BeFree 23924173 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Our study provides evidence for functionally intact semicircular canals and norm... BeFree 16679758 Detail
0.003 Conductive hearing loss This points to the possibility that the Cx26 D50N mutation can cause conductive ... BeFree 18412859 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Autosomal dominant keratitis-ichthyosis-hearing loss syn... ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Ichthyosis, hystrix-like, with hearing loss ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Sensorineural hearing loss disorder ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) AND Mutilating keratoderma ClinVar Detail
NA DisGeNET Detail
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-... DisGeNET Detail
NA DisGeNET Detail
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyo... DisGeNET Detail
Collectively, these data provide insight into Cx26 structure-function and the underlying bases for t... DisGeNET Detail
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.A... DisGeNET Detail
Collectively, these data provide insight into Cx26 structure-function and the underlying bases for t... DisGeNET Detail
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.A... DisGeNET Detail
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-... DisGeNET Detail
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyo... DisGeNET Detail
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.A... DisGeNET Detail
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyo... DisGeNET Detail
Our study provides evidence for functionally intact semicircular canals and normal utricular functio... DisGeNET Detail
This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss. 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
rs28931594 dbSNP
Genome
hg19
Position
chr13:20,763,573-20,763,573
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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