Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg269Gly (p.R269G)
(
ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 ) - Associated Disease
- Sea-blue histiocyte syndrome Alzheimer disease 4 age related macular degeneration 1 Lipoprotein glomerulopathy Alzheimer disease 3 Familial type 3 hyperlipoproteinemia Alzheimer disease 2
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND multiple conditions
- ClinVar Allele ID
- 38492
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.883C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.805C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.805C>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002483522
- 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