Annotation Detail
Information
- Associated Genes
- ABCB1
- Associated Variants
-
ABCB1 p.Ile1145= (p.I1145=)
(
ENST00000265724.8,
ENST00000543898.5,
ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- MDR1 POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) AND MDR1 POLYMORPHISM
- ClinVar Allele ID
- 227763
- ClinVar RefSeq Alternation Syntax
- NM_001348945.2:c.3645T>C
- ClinVar RefSeq Alternation Syntax
- NM_001348944.2:c.3435T>C
- ClinVar RefSeq Alternation Syntax
- NM_000927.5:c.3435T>C
- ClinVar RefSeq Alternation Syntax
- NM_001348946.2:c.3435T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2007-01-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014699
- ClinVar Disease
- MDR1 POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 12686700
- Pubmed
- 15805193
- Pubmed
- 10716719
- Pubmed
- 15452305
- Pubmed
- 17185560
- Pubmed
- 11502320
- Pubmed
- 15452306
Drugs