Annotation Detail

Information
Associated Genes
SLCO1B1
Associated Variants
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 )
SLCO1B1 p.Asn130Asp (p.N130D) ( ENST00000256958.3 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp) AND not provided
ClinVar Allele ID
254471
ClinVar RefSeq Alternation Syntax
NM_006446.5:c.388A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-03-13
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000755390
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs