Annotation Detail
Information
- Associated Genes
- ABCG2
- Associated Variants
-
ABCG2 p.Gln141Lys (p.Q141K)
(
ENST00000237612.8,
ENST00000515655.5,
ENST00000650821.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 ) - Source Database
- ClinVar
- Description
- NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) AND rosuvastatin response - Metabolism/PK
- ClinVar Allele ID
- 39346
- ClinVar RefSeq Alternation Syntax
- NM_004827.3:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001348987.1:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001348989.2:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001257386.2:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001348985.1:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001348986.1:c.421C>A
- ClinVar RefSeq Alternation Syntax
- NM_001348988.1:c.421C>A
- Clinical Significance Description
- drug response
- Clinical Significance Last Update
- 2021-03-24
- Clinical Significance Review Status
- reviewed by expert panel
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001787817
- Observed Origin Sample
- germline
Drugs