Annotation Detail
Information
- Associated Genes
- SLCO1B1
- Associated Variants
-
SLCO1B1 p.Val174Ala (p.V174A)
(
ENST00000256958.3 )
SLCO1B1 p.Val174Ala (p.V174A) ( ENST00000256958.3 ) - Associated Disease
- Gilbert syndrome
- Source Database
- ClinVar
- Description
- NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) AND Gilbert syndrome
- ClinVar Allele ID
- 40587
- ClinVar RefSeq Alternation Syntax
- NM_006446.5:c.521T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000999565
- ClinVar Disease
- Gilbert syndrome
- Observed Origin Sample
- inherited
Drugs