Annotation Detail

Information
Associated Genes
NQO1
Associated Variants
NQO1 p.Pro187Ser (p.P187S) ( ENST00000439109.6, ENST00000379046.6, ENST00000379047.7, ENST00000564043.1, ENST00000320623.10, ENST00000561500.5 )
NQO1 p.Pro187Ser (p.P187S) ( ENST00000320623.10, ENST00000379046.6, ENST00000379047.7, ENST00000439109.6, ENST00000561500.5, ENST00000564043.1 )
Associated Disease
lung carcinoma
Source Database
ClinVar
Description
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND Lung carcinoma
ClinVar Allele ID
31848
ClinVar RefSeq Alternation Syntax
NM_000903.3:c.559C>T
ClinVar RefSeq Alternation Syntax
NM_001025434.2:c.445C>T
ClinVar RefSeq Alternation Syntax
NM_001286137.2:c.343C>T
ClinVar RefSeq Alternation Syntax
NM_001025433.2:c.457C>T
Clinical Significance Description
not provided
Clinical Significance Last Update
2016-03-10
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000434090
ClinVar Disease
Lung carcinoma
Observed Origin Sample
somatic
Drugs