chr13:20189511:C>T Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,650-20,763,650 View the variant detail on this assembly version.
hg38 chr13:20,189,511-20,189,511

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.71G>A NP_003995.2:p.Trp24Ter
Ensemble ENST00000382844.2:c.71G>A ENST00000382844.2:p.Trp24Ter
ENST00000382848.5:c.71G>A ENST00000382848.5:p.Trp24Ter
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 tgv382381082 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 inherited paternal unknown Detail
Pathogenic 2021-04-12 criteria provided, multiple submitters, no conflicts germline inherited Detail
Pathogenic 2018-09-17 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Conflicting interpretations of pathogenicity 2017-04-27 criteria provided, conflicting interpretations Autosomal dominant nonsyndromic hearing loss 3A germline unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2021-12-07 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome unknown Detail
Pathogenic 2014-10-27 no assertion criteria provided germline Detail
Pathogenic 2008-02-25 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
Likely benign 2017-04-27 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss germline Detail
Likely pathogenic no assertion criteria provided Hearing loss, autosomal recessive inherited Detail
Pathogenic 2022-05-04 criteria provided, single submitter Mutilating keratoderma germline Detail
Pathogenic 2020-10-19 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
Pathogenic criteria provided, single submitter palmoplantar keratoderma-deafness syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in ... BeFree 16088916 Detail
0.034 nonsyndromic deafness Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients wit... BeFree 20096468 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Ichthyosis, hystrix-like, with hearing loss ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Hearing loss, autosomal recessive ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Mutilating keratoderma ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) AND Palmoplantar keratoderma-deafness syndrome ClinVar Detail
NA DisGeNET Detail
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gyps... DisGeNET Detail
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic heari... 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
rs104894396 dbSNP
Genome
hg38
Position
chr13:20,189,511-20,189,511
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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)
121380
Allele Counts in All Race (ExAC)
70
Heterozygous Counts in All Race (ExAC)
70
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.767012687427913E-4
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