Annotation Detail

Information
Associated Genes
NQO2
Associated Variants
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 )
NQO2 p.Gly230Arg (p.G230R) ( ENST00000338130.7, ENST00000380430.6, ENST00000380441.5, ENST00000380454.8, ENST00000380455.11 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000904.6(NQO2):c.688G>A (p.Gly230Arg) AND not specified
ClinVar Allele ID
3362450
ClinVar RefSeq Alternation Syntax
NM_001318940.2:c.688G>A
ClinVar RefSeq Alternation Syntax
NR_033884.3:n.4244C>T
ClinVar RefSeq Alternation Syntax
NM_001290221.2:c.688G>A
ClinVar RefSeq Alternation Syntax
NM_000904.6:c.688G>A
ClinVar RefSeq Alternation Syntax
NM_001290222.2:c.574G>A
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2024-02-26
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV004491198
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs