Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Gly145Asp (p.G145D)
(
ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
APOE p.Gly145Asp (p.G145D) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 ) - Associated Disease
- Hyperlipoproteinemia due to APOE1
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[434G>A;526C>T] AND Hyperlipoproteinemia due to APOE1
- ClinVar Allele ID
- 32895
- ClinVar Allele ID
- 32887
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.434G>A
- 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_001302690.2:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.512G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.526C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.604C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1984-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019439
- ClinVar Disease
- Hyperlipoproteinemia due to APOE1
- Observed Origin Sample
- germline
- Pubmed
- 6323533
Drugs