Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Asp374Asn (p.D374N)
(
ENST00000302118.5,
ENST00000673903.1,
ENST00000710286.1,
ENST00000713786.1 )
PCSK9 p.Asp374Asn (p.D374N) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, 3
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) AND Hypercholesterolemia, autosomal dominant, 3
- ClinVar Allele ID
- 907408
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.1120G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.1243G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1120G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.1120G>A
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.1120G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1063G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.928G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.745G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.1123G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-12-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004008303
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, 3
- Observed Origin Sample
- germline
Drugs