chr13:20763305:C>T Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,305-20,763,305
hg38 chr13:20,189,166-20,189,166 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.416G>A NP_003995.2:p.Ser139Asn
Ensemble ENST00000382844.2:c.416G>A ENST00000382844.2:p.Ser139Asn
ENST00000382848.5:c.416G>A ENST00000382848.5:p.Ser139Asn
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 2019-01-31 criteria provided, single submitter Rare genetic deafness germline Detail
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic Likely pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic Likely pathogenic 2019-12-17 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline paternal unknown Detail
Likely pathogenic 2016-06-23 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter Knuckle pads, deafness AND leukonychia syndrome,palmoplantar keratoderma-deafness syndrome,X-linked mixed hearing loss with perilymphatic gusher,Mutilating keratoderma,Autosomal recessive nonsyndromic hearing loss 1A,Ichthyosis, hystrix-like, with hearing loss,Autosomal dominant keratitis-ichthyosis-hearing loss syndrome,Autosomal dominant nonsyndromic hearing loss 3A unknown Detail
Pathogenic 2009-07-31 no assertion criteria provided germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B germline Detail
Pathogenic criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B germline Detail
Benign 2017-04-28 criteria provided, single submitter Ichthyosis, hystrix-like, with hearing loss germline Detail
Pathogenic 2022-02-18 criteria provided, multiple submitters, no conflicts Autosomal recessive nonsyndromic hearing loss 1A germline 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.416G>A (p.Ser139Asn) AND Rare genetic deafness ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Hearing impairment ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND not provided ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Autosomal recessive nonsyndromic hearing loss 1A ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Autosomal dominant nonsyndromic hearing loss 3A ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Hearing loss ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND multiple conditions ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Ichthyosis, hystrix-like, with hearing loss ClinVar Detail
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) AND Autosomal recessive nonsyndromic hearing loss 1A 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
rs76434661 dbSNP
Genome
hg19
Position
chr13:20,763,305-20,763,305
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1587485515643106E-4
Chromosome Counts in All Race (ExAC)
121068
Allele Counts in All Race (ExAC)
37
Heterozygous Counts in All Race (ExAC)
37
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.0561337430204513E-4
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