Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg43Cys (p.R43C)
(
ENST00000252486.9 )
APOE p.Arg43Cys (p.R43C) ( ENST00000252486.9 ) - Associated Disease
- Alzheimer disease 3 Sea-blue histiocyte syndrome Alzheimer disease 4 age related macular degeneration 1 Lipoprotein glomerulopathy Alzheimer disease 2 Familial type 3 hyperlipoproteinemia
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.127C>T (p.Arg43Cys) AND multiple conditions
- ClinVar Allele ID
- 32919
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.127C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.205C>T
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.127C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-02-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496418
- ClinVar Disease
- Alzheimer disease 3
- ClinVar Disease
- Alzheimer disease 4
- ClinVar Disease
- Lipoprotein glomerulopathy
- ClinVar Disease
- Familial type 3 hyperlipoproteinemia
- ClinVar Disease
- Sea-blue histiocyte syndrome
- ClinVar Disease
- Alzheimer disease 2
- ClinVar Disease
- Age related macular degeneration 1
- Observed Origin Sample
- unknown
Drugs