Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Cys679Ter (p.C679*)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1,
ENST00000673903.1 )
PCSK9 p.Cys679Ter (p.C679*) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) AND Hypocholesterolemia
- ClinVar Allele ID
- 17916
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.1662C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.2079C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.2160C>A
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.2037C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1980C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1863C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.1536C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.1845C>A
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.2040C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000508694
- Observed Origin Sample
- germline
Drugs