Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Leu46Pro (p.L46P)
(
ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Leu46Pro (p.L46P) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 ) - Associated Disease
- familial hypercholesterolemia
- Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[137T>C;388T>C] AND Familial hypercholesterolemia
- ClinVar Allele ID
- 32909
- ClinVar Allele ID
- 32903
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.137T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.137T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.137T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.466T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.215T>C
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.137T>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2020-05-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001175124
- ClinVar Disease
- Familial hypercholesterolemia
- Observed Origin Sample
- germline
Drugs