chr13:20189386:C>G Detail (hg38) (GJB2)

Information

Genome

Assembly Position
hg19 chr13:20,763,525-20,763,525 View the variant detail on this assembly version.
hg38 chr13:20,189,386-20,189,386

HGVS

Type Transcript Protein
RefSeq NM_004004.5:c.196G>C NP_003995.2:p.Asp66His
Ensemble ENST00000382844.2:c.196G>C ENST00000382844.2:p.Asp66His
ENST00000382848.5:c.196G>C ENST00000382848.5:p.Asp66His
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 1999-07-01 no assertion criteria provided Mutilating keratoderma germline Detail
Pathogenic 2015-05-11 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.012 Dermatologic disorders Here we compare the properties of four cx26 mutants derived from point mutations... BeFree 12668604 Detail
0.482 Mutilating keratoderma Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26... BeFree 20031451 Detail
0.482 Mutilating keratoderma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004004.6(GJB2):c.196G>C (p.Asp66His) AND Mutilating keratoderma ClinVar Detail
NM_004004.6(GJB2):c.196G>C (p.Asp66His) AND Hearing loss ClinVar Detail
Here we compare the properties of four cx26 mutants derived from point mutations associated with dom... DisGeNET Detail
Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epilep... 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
rs104894403 dbSNP
Genome
hg38
Position
chr13:20,189,386-20,189,386
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser