Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Ser320Phe (p.S320F)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- Low phospholipid associated cholelithiasis
- Source Database
- ClinVar
- Description
- NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) AND Low phospholipid associated cholelithiasis
- ClinVar Allele ID
- 28729
- ClinVar RefSeq Alternation Syntax
- NM_000443.4:c.959C>T
- ClinVar RefSeq Alternation Syntax
- NM_018850.3:c.959C>T
- ClinVar RefSeq Alternation Syntax
- NM_018849.3:c.959C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014688
- ClinVar Disease
- Low phospholipid associated cholelithiasis
- Observed Origin Sample
- germline
- Pubmed
- 19584064
- Pubmed
- 11313316
Drugs