Annotation Detail

Information
Associated Genes
KRT2
Associated Variants
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 )
KRT2 p.Glu476Lys (p.E476K) ( ENST00000309680.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) AND not provided
ClinVar Allele ID
24353
ClinVar RefSeq Alternation Syntax
NM_000423.3:c.1426G>A
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000056527
ClinVar Disease
not provided
Observed Origin Sample
not provided
Drugs