Annotation Detail

Information
Associated Genes
SRD5A2
Associated Variants
SRD5A2 p.Ala88= (p.A88=) ( ENST00000622030.2 )
SRD5A2 p.Leu89Val (p.L89V) ( ENST00000622030.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) AND not provided
ClinVar Allele ID
103292
ClinVar RefSeq Alternation Syntax
NM_000348.4:c.265C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2015-03-03
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000083650
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
not provided
Drugs