Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Glu262Lys (p.E262K)
(
ENST00000252486.9 )
APOE p.Glu263Lys (p.E263K) ( ENST00000252486.9 )
APOE p.Glu262Lys (p.E262K) ( ENST00000252486.9 )
APOE p.Glu263Lys (p.E263K) ( ENST00000252486.9 ) - Associated Disease
- HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[784G>A;787G>A] AND HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7
- ClinVar Allele ID
- 32893
- ClinVar Allele ID
- 38487
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.787G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.784G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.784G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.784G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.787G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.784G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.862G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.787G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.787G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.865G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1995-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019435
- ClinVar Disease
- HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7
- Observed Origin Sample
- germline
- Pubmed
- 7586659
- Pubmed
- 2470732
- Pubmed
- 2738044
- Pubmed
- 6480826
Drugs