Annotation Detail
Information
- Associated Genes
- CYP2C8
- Associated Variants
-
CYP2C8 p.Lys399Arg (p.K399R)
(
ENST00000623108.3,
ENST00000371270.6,
ENST00000535898.5 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000535898.5, ENST00000628935.1, ENST00000623108.3, ENST00000371270.6 )
CYP2C8 p.Lys399Arg (p.K399R) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3 )
CYP2C8 p.Arg139Lys (p.R139K) ( ENST00000371270.6, ENST00000535898.5, ENST00000623108.3, ENST00000628935.1 ) - Associated Disease
- CYP2C8 HAPLOTYPE POLYMORPHISM
- Source Database
- ClinVar
- Description
- CYP2C8*3 AND CYP2C8 HAPLOTYPE POLYMORPHISM
- ClinVar Allele ID
- 536085
- ClinVar Allele ID
- 362503
- ClinVar RefSeq Alternation Syntax
- NM_001198855.1:c.206G>A
- ClinVar RefSeq Alternation Syntax
- NM_001198855.1:c.986A>G
- 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.986A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198853.1:c.206G>A
- ClinVar RefSeq Alternation Syntax
- NM_000770.3:c.1196A>G
- ClinVar RefSeq Alternation Syntax
- NM_001198854.1:c.890A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-20
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000656544
- ClinVar Disease
- CYP2C8 HAPLOTYPE POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 28378927
- Pubmed
- 26721703
Drugs