Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Cys679= (p.C679=)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000673903.1,
ENST00000710286.1 )
PCSK9 p.Cys679= (p.C679=) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia, autosomal dominant, 3
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.2037C>T (p.Cys679=) AND Hypercholesterolemia, autosomal dominant, 3
- ClinVar Allele ID
- 3039309
- ClinVar RefSeq Alternation Syntax
- NR_176323.1:n.2149C>T
- ClinVar RefSeq Alternation Syntax
- NR_176319.1:n.2596C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.1845C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.2079C>T
- ClinVar RefSeq Alternation Syntax
- NR_176318.1:n.2121C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1863C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.2040C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.1536C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.1662C>T
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.2037C>T
- ClinVar RefSeq Alternation Syntax
- NR_176321.1:n.2275C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.2160C>T
- ClinVar RefSeq Alternation Syntax
- NR_110451.3:n.2318C>T
- ClinVar RefSeq Alternation Syntax
- NR_176320.1:n.2560C>T
- ClinVar RefSeq Alternation Syntax
- NR_176322.1:n.2230C>T
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1980C>T
- ClinVar RefSeq Alternation Syntax
- NR_176324.1:n.2537C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-10-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003606599
- ClinVar Disease
- Hypercholesterolemia, autosomal dominant, 3
- Observed Origin Sample
- germline
Drugs