Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Arg269Gly (p.R269G)
(
ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 ) - Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.805C>G (p.Arg269Gly) AND Cardiovascular phenotype
- 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
- 2023-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003352927
- Observed Origin Sample
- germline
Drugs