chr13:20189031:C>G Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,170-20,763,170 View the variant detail on this assembly version.
hg38 chr13:20,189,031-20,189,031

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.551G>C NP_003995.2:p.Arg184Pro
Ensemble ENST00000382844.2:c.551G>C ENST00000382844.2:p.Arg184Pro
ENST00000382848.5:c.551G>C ENST00000382848.5:p.Arg184Pro
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 Conflicting classifications of pathogenicity
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 2018-10-18 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Pathogenic 2022-08-26 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2024-01-16 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2015-06-01 no assertion criteria provided germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,X-linked mixed hearing loss with perilymphatic gusher,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma unknown Detail
Pathogenic 2019-01-26 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2020-08-31 criteria provided, single submitter Nonsyndromic genetic hearing loss germline Detail
Uncertain significance 2024-04-04 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.360 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) NA CLINVAR Detail
0.133 palmoplantar keratosis HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non... BeFree 20096356 Detail
<0.001 palmoplantar keratosis HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non... BeFree 20096356 Detail
0.133 palmoplantar keratosis HeLa cells stably expressing wild type Cx26 were transiently transfected to co-e... BeFree 21040787 Detail
0.065 Hearing Loss, Mixed Conductive-Sensorineural Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative e... BeFree 20442751 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l... DisGeNET Detail
HeLa cells stably expressing nine dominant Cx26 mutants, six associated with non-syndromic hearing l... DisGeNET Detail
HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individu... DisGeNET Detail
Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26... 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
rs80338950 dbSNP
Genome
hg38
Position
chr13:20,189,031-20,189,031
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8636
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)
120968
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1333245155743666E-5
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