Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM
NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM
NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM
NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM - Associated Disease
- APOE3 ISOFORM
- Source Database
- ClinVar
- Description
- NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM
- ClinVar Allele ID
- 682795
- ClinVar Allele ID
- 32902
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.604=
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.466=
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1981-09-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000019447
- ClinVar Disease
- APOE3 ISOFORM
- Observed Origin Sample
- germline
- Pubmed
- 6300187
- Pubmed
- 7263700
Drugs