Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Pro102Arg (p.P102R)
(
ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Pro102Arg (p.P102R) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 ) - Source Database
- ClinVar
- Description
- NM_000041.3(APOE):c.[305C>G;388T>C] AND APOE5 VARIANT
- ClinVar Allele ID
- 32903
- ClinVar Allele ID
- 32911
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.305C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.388T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.305C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.305C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.466T>C
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.305C>G
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.383C>G
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2019-11-22
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019458
- Observed Origin Sample
- germline
- Pubmed
- 3585172
- Pubmed
- 2341812
Drugs