Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg163His (p.R163H)
(
ENST00000252486.9 )
APOE p.Arg163His (p.R163H) ( ENST00000252486.9 ) - Associated Disease
- Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.488G>A (p.Arg163His) AND Familial type 3 hyperlipoproteinemia
- ClinVar Allele ID
- 32904
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.566G>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.488G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.488G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1990-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019449
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- Observed Origin Sample
- germline
- Pubmed
- 2101409
Drugs