Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Val254Glu (p.V254E)
(
ENST00000252486.9 )
APOE p.Val254Glu (p.V254E) ( ENST00000252486.9 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.761T>A (p.Val254Glu) AND not specified
- ClinVar Allele ID
- 38491
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.761T>A
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.761T>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.761T>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.761T>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.839T>A
- Clinical Significance Description
- Benign
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701092
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs