Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Arg46Leu (p.R46L)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- familial hypercholesterolemia
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) AND Familial hypercholesterolemia
- ClinVar Allele ID
- 17917
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.137G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-12-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001523785
- ClinVar Disease
- Familial hypercholesterolemia
- Observed Origin Sample
- germline
Drugs