chr13:20763687:C>G 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>C NP_003995.2:p.Gly12Arg
Ensemble ENST00000382844.2:c.34G>C ENST00000382844.2:p.Gly12Arg
ENST00000382848.5:c.34G>C ENST00000382848.5:p.Gly12Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-05-01 no assertion criteria provided Autosomal dominant keratitis-ichthyosis-hearing loss syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) NA CLINVAR Detail
0.328 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>C (p.Gly12Arg) AND Autosomal dominant keratitis-ichthyosis-hearing loss synd... 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
G
Genome browser