Annotation Detail

Information

Associated Genes: APOE
Associated Variants: APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
Associated Disease: Alzheimer disease 2
Source Database: ClinVar
Description: NM_000041.4(APOE):c.388T>C (p.Cys130Arg) AND Alzheimer disease 2
ClinVar Allele ID: 32903
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_001302690.2:c.388T>C
ClinVar RefSeq Alternation Syntax: NM_001302688.2:c.466T>C
Clinical Significance Description: Pathogenic/Established risk allele
Clinical Significance Last Update: 2022-06-27
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000019448
ClinVar Disease: Alzheimer disease 2
Observed Origin Sample: germline
Observed Origin Sample: unknown
Pubmed: 11940689
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Pubmed: 7263700
Pubmed: 15048896
Pubmed: 8350998
Pubmed: 8644717
Pubmed: 14741101
Pubmed: 11940706
Pubmed: 8346443
Pubmed: 2987927
Pubmed: 9932938
Pubmed: 15557508
Pubmed: 3922972
Pubmed: 11835377
Pubmed: 32376954
Pubmed: 15668424
Pubmed: 15326261
Pubmed: 8618665

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