Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg176Cys (p.R176C)
(
ENST00000252486.9 )
APOE p.Arg242Gln (p.R242Q) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
APOE p.Arg242Gln (p.R242Q) ( ENST00000252486.9 ) - Associated Disease
- Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[526C>T;725G>A] AND Familial type 3 hyperlipoproteinemia
- ClinVar Allele ID
- 32887
- ClinVar Allele ID
- 38490
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.803G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.725G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.725G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.604C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.725G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.725G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-02-21
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019452
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- Observed Origin Sample
- germline
- Pubmed
- 8664327
Drugs