Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Glu31Lys (p.E31K)
(
ENST00000252486.9 )
APOE p.Arg163Cys (p.R163C) ( ENST00000252486.9 )
APOE p.Glu31Lys (p.E31K) ( ENST00000252486.9 )
APOE p.Arg163Cys (p.R163C) ( ENST00000252486.9 ) - Associated Disease
- Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[487C>T;91G>A] AND Familial type 3 hyperlipoproteinemia
- ClinVar Allele ID
- 32890
- ClinVar Allele ID
- 32899
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.487C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.91G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.91G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.565C>T
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.487C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.91G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.169G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.91G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.487C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.487C>T
- 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/RCV000019443
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- Observed Origin Sample
- germline
- Pubmed
- 1674745
- Pubmed
- 1361196
Drugs