Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE c.237-2A>G
(
ENST00000252486.9 )
APOE c.237-2A>G ( ENST00000252486.9 ) - Associated Disease
- Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.237-2A>G AND Familial type 3 hyperlipoproteinemia
- ClinVar Allele ID
- 32891
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.237-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.237-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.315-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.237-2A>G
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.237-2A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1987-02-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019433
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- Observed Origin Sample
- germline
- Pubmed
- 3771793
- Pubmed
- 3029073
- Pubmed
- 6795720
Drugs