Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Gly145Asp (p.G145D)
(
ENST00000252486.9 )
APOE p.Gly145Asp (p.G145D) ( ENST00000252486.9 ) - Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.434G>A (p.Gly145Asp) AND Hypercholesterolemia
- ClinVar Allele ID
- 32895
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.434G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.512G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001262660
- Observed Origin Sample
- unknown
Drugs