Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Ser127Arg (p.S127R)
(
ENST00000713786.1,
ENST00000710286.1,
ENST00000673903.1,
ENST00000302118.5 )
PCSK9 p.Ser127Arg (p.S127R) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, 3
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) AND Hypercholesterolemia, autosomal dominant, 3
- ClinVar Allele ID
- 17912
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.381T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003007
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, 3
- Observed Origin Sample
- germline
- Pubmed
- 12730697
- Pubmed
- 15166014
- Pubmed
- 18250299
Drugs