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
- NQO1-related disorder
- Source Database
- ClinVar
- Description
- NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) AND NQO1-related disorder
- 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
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974839
- ClinVar Disease
- NQO1-related disorder
- Observed Origin Sample
- germline
Drugs