Annotation Detail
Information
- Associated Genes
- CYP19A1 PIRC66 MIR4713HG
- Associated Variants
-
CYP19A1 p.Trp39Arg (p.W39R)
(
ENST00000396402.6,
ENST00000559878.5,
ENST00000405913.7,
ENST00000396404.8,
ENST00000557858.5 )
CYP19A1 p.Trp39Arg (p.W39R) ( ENST00000396402.6, ENST00000396404.8, ENST00000405913.7, ENST00000557858.5, ENST00000559878.5 ) - Associated Disease
- Aromatase deficiency
- Source Database
- ClinVar
- Description
- NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) AND Aromatase deficiency
- Observed Origin Sample
- germline
- ClinVar Allele ID
- 322856
- ClinVar RefSeq Alternation Syntax
- NM_001347256.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347249.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347253.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347252.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347250.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347251.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347254.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347255.2:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_000103.4:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_031226.3:c.115T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347248.1:c.115T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000310608
- ClinVar Disease
- Aromatase deficiency
Drugs