Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Cys130Arg (p.C130R)
(
ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 ) - Associated Disease
- Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[388T>C;805C>G] AND Familial type 3 hyperlipoproteinemia
- ClinVar Allele ID
- 38492
- ClinVar Allele ID
- 32903
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.883C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.466T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1993-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019455
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- Observed Origin Sample
- germline
- Pubmed
- 8488843
Drugs