chr13:20763186:C>A Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,186-20,763,186
hg38 chr13:20,189,047-20,189,047 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.535G>T NP_003995.2:p.Asp179Tyr
Ensemble ENST00000382844.2:c.535G>T ENST00000382844.2:p.Asp179Tyr
ENST00000382848.5:c.535G>T ENST00000382848.5:p.Asp179Tyr
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
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.345 Sensorineural Hearing Loss (disorder) The proband was a 3-month-old infant with a congenital profound sensorineural he... BeFree 23812555 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 A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associ... BeFree 12786758 Detail
0.360 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associ... UNIPROT 12786758 Detail
Annotation

Annotations

DescrptionSourceLinks
The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct s... 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
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndro... DisGeNET Detail
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndro... 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
-
Genome
hg19
Position
chr13:20,763,186-20,763,186
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8638
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)
121044
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.261458643138033E-6
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