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
APOE p.Arg154Ser (p.R154S) ( ENST00000252486.9 )
APOE p.Arg154Ser (p.R154S) ( ENST00000252486.9 ) - Associated Disease
- Alzheimer disease 3, protection against, due to APOE3-Christchurch
- Source Database
- ClinVar
- Description
- NM_000041.4:c.[388=;460C>A526=] AND Alzheimer disease 3, protection against, due to APOE3-Christchurch
- ClinVar Allele ID
- 682795
- ClinVar Allele ID
- 32902
- ClinVar Allele ID
- 32889
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_000041.4:c.460C>A
- 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_000041.4:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.460C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.460C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.466=
- ClinVar RefSeq Alternation Syntax
- NM_001302689.2:c.526=
- ClinVar RefSeq Alternation Syntax
- NM_001302691.2:c.388=
- ClinVar RefSeq Alternation Syntax
- NM_001302688.2:c.538C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302690.2:c.460C>A
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2019-11-25
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000856604
- ClinVar Disease
- Alzheimer disease 3, protection against, due to APOE3-Christchurch
- Observed Origin Sample
- germline
- Pubmed
- 31686034
Drugs