Annotation Detail
Information
- Associated Genes
- CYP1A1
- Associated Variants
-
CYP1A1 p.Ile462Val (p.I462V)
(
ENST00000617691.4,
ENST00000567032.5,
ENST00000379727.8,
ENST00000395049.8,
ENST00000395048.6 )
CYP1A1 p.Ile462Val (p.I462V) ( ENST00000379727.8, ENST00000395048.6, ENST00000395049.8, ENST00000567032.5, ENST00000617691.4 ) - Associated Disease
- CYP1A1-related disorder
- Source Database
- ClinVar
- Description
- NM_001319217.2(CYP1A1):c.1384A>G (p.Ile462Val) AND CYP1A1-related disorder
- ClinVar Allele ID
- 3200914
- ClinVar RefSeq Alternation Syntax
- NM_001319217.2:c.1384A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319216.2:c.1297A>G
- ClinVar RefSeq Alternation Syntax
- NM_000499.5:c.1384A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003984578
- ClinVar Disease
- CYP1A1-related disorder
- Observed Origin Sample
- germline
Drugs