Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Asp374Tyr (p.D374Y)
(
ENST00000713786.1,
ENST00000673903.1,
ENST00000710286.1,
ENST00000302118.5 )
PCSK9 p.Asp374Tyr (p.D374Y) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, 3
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) AND Hypercholesterolemia, autosomal dominant, 3
- ClinVar Allele ID
- 17914
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.1243G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1120G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.1123G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.1120G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.928G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.1120G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.745G>T
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.1120G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1063G>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-18
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003009
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, 3
- Observed Origin Sample
- germline
- Pubmed
- 10764678
- Pubmed
- 10357843
- Pubmed
- 15772090
- Pubmed
- 18250299
- Pubmed
- 14727179
Drugs