Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Gly670Glu (p.G670E)
(
ENST00000673903.1,
ENST00000710286.1,
ENST00000713786.1,
ENST00000302118.5 )
PCSK9 p.Gly670Glu (p.G670E) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- hypobetalipoproteinemia
- Source Database
- ClinVar
- Description
- NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu) AND Hypobetalipoproteinemia
- ClinVar Allele ID
- 45331
- ClinVar RefSeq Alternation Syntax
- NM_001407245.1:c.1817G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407241.1:c.2051G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407242.1:c.2012G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407246.1:c.1634G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407243.1:c.1952G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407247.1:c.1508G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407244.1:c.1835G>A
- ClinVar RefSeq Alternation Syntax
- NM_174936.4:c.2009G>A
- ClinVar RefSeq Alternation Syntax
- NM_001407240.1:c.2132G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000364880
- ClinVar Disease
- Hypobetalipoproteinemia
- Observed Origin Sample
- germline
Drugs