Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Lys164Gln (p.K164Q)
(
ENST00000252486.9 )
APOE p.Lys164Gln (p.K164Q) ( ENST00000252486.9 ) - Associated Disease
- Hyperlipoproteinemia, type III, due to APOE2
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.490A>C (p.Lys164Gln) AND Hyperlipoproteinemia, type III, due to APOE2
- ClinVar Allele ID
- 32897
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.490A>C
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.490A>C
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.490A>C
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.568A>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.490A>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1990-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001804151
- ClinVar Disease
- Hyperlipoproteinemia, type III, due to APOE2
- Observed Origin Sample
- germline
- Pubmed
- 6313758
- Pubmed
- 2313204
Drugs