Annotation Detail
Information
- Associated Genes
- CYP2C8
- Associated Variants
-
CYP2C8 p.Arg139Lys (p.R139K)
(
ENST00000535898.5,
ENST00000628935.1,
ENST00000623108.3,
ENST00000371270.6 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3, ENST00000628935.1 ) - Associated Disease
- CYP2C8-related disorder
- Source Database
- ClinVar
- Description
- NM_000770.3(CYP2C8):c.416G>A (p.Arg139Lys) AND CYP2C8-related disorder
- ClinVar Allele ID
- 536085
- ClinVar RefSeq Alternation Syntax
- NM_001198855.1:c.206G>A
- ClinVar RefSeq Alternation Syntax
- NM_000770.3:c.416G>A
- ClinVar RefSeq Alternation Syntax
- NM_001198854.1:c.110G>A
- ClinVar RefSeq Alternation Syntax
- NM_001198853.1:c.206G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-29
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003965420
- ClinVar Disease
- CYP2C8-related disorder
- Observed Origin Sample
- germline
Drugs