chr13:20763503:T>C Detail (hg19) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,503-20,763,503
hg38 chr13:20,189,364-20,189,364 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.218A>G NP_003995.2:p.His73Arg
Ensemble ENST00000382848.5:c.218A>G ENST00000382848.5:p.His73Arg
ENST00000382844.2:c.218A>G ENST00000382844.2:p.His73Arg
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 1999-04-17 no assertion criteria provided palmoplantar keratoderma-deafness syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.482 Mutilating keratoderma Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a sy... BeFree 17993581 Detail
0.481 Palmoplantar Keratoderma with Deafness NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.218A>G (p.His73Arg) AND Palmoplantar keratoderma-deafness syndrome ClinVar Detail
Here, we report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palm... DisGeNET 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
rs121912968 dbSNP
Genome
hg19
Position
chr13:20,763,503-20,763,503
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser