Annotation Detail

Information
Associated Genes
KRT8
Associated Variants
KRT8 p.Ala475Val (p.A475V) ( ENST00000293308.11, ENST00000692008.1, ENST00000552551.5, ENST00000546897.5, ENST00000552150.5 )
KRT8 p.Ala475Val (p.A475V) ( ENST00000293308.11, ENST00000546897.5, ENST00000552150.5, ENST00000552551.5, ENST00000692008.1 )
Associated Disease
Hepatitis C virus, susceptibility to
Source Database
ClinVar
Description
NM_002273.4(KRT8):c.1340C>T (p.Ala447Val) AND Hepatitis C virus, susceptibility to
ClinVar Allele ID
70808
ClinVar RefSeq Alternation Syntax
NM_001256282.2:c.1424C>T
ClinVar RefSeq Alternation Syntax
NM_001256293.2:c.1340C>T
ClinVar RefSeq Alternation Syntax
NM_002273.4:c.1340C>T
ClinVar RefSeq Alternation Syntax
NR_045962.2:n.1791C>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000049580
ClinVar Disease
Hepatitis C virus, susceptibility to
Observed Origin Sample
unknown
Drugs