chr13:20763712:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,712-20,763,712
hg38 chr13:20,189,573-20,189,573 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.9G>A NP_003995.2:p.Trp3Ter
Ensemble ENST00000382848.5:c.9G>A ENST00000382848.5:p.Trp3Ter
ENST00000382844.2:c.9G>A ENST00000382844.2:p.Trp3Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 2008-10-08 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2017-03-28 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A inherited unknown Detail
Pathogenic 2021-02-01 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2024-01-25 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-05-17 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss unknown Detail
Pathogenic 2021-12-27 criteria provided, single submitter X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Ichthyosis, hystrix-like, with hearing loss 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.9G>A (p.Trp3Ter) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) 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
rs111033401 dbSNP
Genome
hg19
Position
chr13:20,763,712-20,763,712
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser