Annotation Detail
Information
- Associated Genes
- ABCB1
- Associated Variants
-
ABCB1 p.Gly412= (p.G412=)
(
ENST00000265724.8,
ENST00000543898.5,
ENST00000622132.5 )
ABCB1 p.Gly412= (p.G412=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) AND not provided
- ClinVar Allele ID
- 191350
- ClinVar RefSeq Alternation Syntax
- NM_000927.5:c.1236T>C
- ClinVar RefSeq Alternation Syntax
- NM_001348945.2:c.1446T>C
- ClinVar RefSeq Alternation Syntax
- NM_001348946.2:c.1236T>C
- ClinVar RefSeq Alternation Syntax
- NM_001348944.2:c.1236T>C
- 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/RCV000835734
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs