Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Phe216Leu (p.F216L)
(
ENST00000302118.5,
ENST00000673903.1,
ENST00000710286.1,
ENST00000713786.1 )
PCSK9 p.Phe216Leu (p.F216L) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, 3
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu) AND Hypercholesterolemia, autosomal dominant, 3
- ClinVar Allele ID
- 17913
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.454T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.589T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.271T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.646T>C
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.769T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.646T>C
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.646T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-02-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003008
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, 3
- Observed Origin Sample
- germline
- Pubmed
- 12730697
- Pubmed
- 18250299
Drugs