Annotation Detail
Information
- Associated Genes
- SLCO1B1
- Associated Variants
-
SLCO1B1 p.Asn130Asp (p.N130D)
(
ENST00000256958.3 )
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 ) - Associated Disease
- Rotor syndrome
- Source Database
- ClinVar
- Description
- NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) AND Rotor syndrome
- ClinVar Allele ID
- 254471
- ClinVar RefSeq Alternation Syntax
- NM_006446.5:c.388A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-30
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000405902
- ClinVar Disease
- Rotor syndrome
- Observed Origin Sample
- germline
Drugs