Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Trp228Ter (p.W228*)
(
ENST00000252486.9 )
APOE p.Trp228Ter (p.W228*) ( ENST00000252486.9 ) - Associated Disease
- HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.683G>A (p.Trp228Ter) AND HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)
- ClinVar Allele ID
- 32901
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.683G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.761G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1992-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000856605
- ClinVar Disease
- HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)
- Observed Origin Sample
- germline
- Pubmed
- 1361196
- Pubmed
- 3029073
- Pubmed
- 6795720
Drugs