Annotation Detail
Information
- Associated Genes
- CYP17A1 LOC110408762
- Associated Variants
-
CYP17A1 c.-34T>C
(
ENST00000638190.1,
ENST00000638971.1,
ENST00000369887.4,
ENST00000638272.1,
ENST00000639393.1 )
CYP17A1 c.-34T>C ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 ) - Associated Disease
- Deficiency of steroid 17-alpha-monooxygenase
- Source Database
- ClinVar
- Description
- NM_000102.4(CYP17A1):c.-34T>C AND Deficiency of steroid 17-alpha-monooxygenase
- ClinVar Allele ID
- 314022
- ClinVar RefSeq Alternation Syntax
- NM_000102.4:c.-34T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000354477
- ClinVar Disease
- Deficiency of steroid 17-alpha-monooxygenase
- Observed Origin Sample
- germline
Drugs