Annotation Detail

Information
Associated Genes
CYP2R1
Associated Variants
CYP2R1 p.Ser59= (p.S59=) ( ENST00000334636.10 )
CYP2R1 p.Ser59= (p.S59=) ( ENST00000334636.10 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_024514.5(CYP2R1):c.177C>T (p.Ser59=) AND not provided
ClinVar Allele ID
1156655
ClinVar RefSeq Alternation Syntax
NM_024514.5:c.177C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001512205
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs