chr13:20763687:C>A Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,687-20,763,687
hg38 chr13:20,189,548-20,189,548 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.34G>T NP_003995.2:p.Gly12Cys
Ensemble ENST00000382844.2:c.34G>T ENST00000382844.2:p.Gly12Cys
ENST00000382848.5:c.34G>T ENST00000382848.5:p.Gly12Cys
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 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 2022-10-19 reviewed by expert panel Nonsyndromic genetic hearing loss germline Detail
Pathogenic Likely pathogenic 2024-01-21 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Likely pathogenic 2023-06-02 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline unknown Detail
Likely pathogenic 2016-04-18 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-01-25 no assertion criteria provided germline Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2022-01-14 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Knuckle pads, deafness AND leukonychia syndrome,Mutilating keratoderma,palmoplantar keratoderma-deafness syndrome,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,X-linked mixed hearing loss with perilymphatic gusher unknown Detail
Likely pathogenic 2018-11-28 criteria provided, single submitter Rare genetic deafness germline Detail
Likely pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B germline Detail
Likely pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter Mutilating keratoderma germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2021-03-30 criteria provided, single submitter Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,palmoplantar keratoderma-deafness syndrome,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal dominant nonsyndromic hearing loss 3A,Ichthyosis, hystrix-like, with hearing loss,Mutilating keratoderma,Knuckle pads, deafness AND leukonychia syndrome germline Detail
Likely pathogenic 2023-12-13 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
0.328 Senter syndrome This article describes a patient with the G12R mutation and KID syndrome with in... BeFree 22011219 Detail
0.012 Keratitis-Ichthyosis-Deafness Syndrome Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: rep... BeFree 22011219 Detail
0.121 Porokeratotic eccrine ostial and dermal duct nevus This article describes a patient with the G12R mutation and KID syndrome with in... BeFree 22011219 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Nonsyndromic genetic hearing loss ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Mutilating keratoderma ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NA DisGeNET Detail
This article describes a patient with the G12R mutation and KID syndrome with interesting additional... DisGeNET Detail
Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient wit... DisGeNET Detail
This article describes a patient with the G12R mutation and KID syndrome with interesting additional... 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
rs104894408 dbSNP
Genome
hg19
Position
chr13:20,763,687-20,763,687
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
119874
Allele Counts in All Race (ExAC)
52
Heterozygous Counts in All Race (ExAC)
52
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.337888115854981E-4
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