Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Val474Ile (p.V474I)
(
ENST00000713786.1,
ENST00000673903.1,
ENST00000710286.1,
ENST00000302118.5 )
PCSK9 p.Val474Ile (p.V474I) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) AND not specified
- ClinVar Allele ID
- 196757
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.1420G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.1543G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.1045G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1246G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1363G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.1228G>A
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.1420G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.1423G>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000182572
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs