Annotation Detail

Information
Associated Genes
CYP2E1 LOC110599585
Associated Variants
CYP2E1 c.-117-695G>C ( ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
CYP2E1 c.-117-695G>C ( ENST00000463117.6 )
CYP2E1 c.-117-455C>T ( ENST00000463117.6 )
Source Database
ClinVar
Description
CYP2E1*5B AND CYP2E1*5B ALLELE
ClinVar Allele ID
136524
ClinVar Allele ID
136523
Clinical Significance Description
other
Clinical Significance Last Update
2016-04-20
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000018383
Observed Origin Sample
germline
Pubmed
10543395
Pubmed
19444287
Pubmed
1778977
Drugs