Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Arg590Gln (p.R590Q)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Arg590Gln (p.R590Q) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- Low phospholipid associated cholelithiasis
- Source Database
- ClinVar
- Description
- NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) AND Low phospholipid associated cholelithiasis
- ClinVar Allele ID
- 28736
- ClinVar RefSeq Alternation Syntax
- NM_018850.3:c.1769G>A
- ClinVar RefSeq Alternation Syntax
- NM_018849.3:c.1769G>A
- ClinVar RefSeq Alternation Syntax
- NM_000443.4:c.1769G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-03-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033067
- ClinVar Disease
- Low phospholipid associated cholelithiasis
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Pubmed
- 18482588
- Pubmed
- 19584064
Drugs