Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Tyr142Ter (p.Y142*)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1,
ENST00000673903.1 )
PCSK9 p.Tyr142Ter (p.Y142*) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) AND not specified
- ClinVar Allele ID
- 17915
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.426C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-09-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001731276
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs