Full data view for gene APOE

Information The variants shown are described using the NM_000041.2 transcript reference sequence.

72 entries on 1 page. Showing entries 1 - 72.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Yu et al. 2000 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Waterham et al. 2000 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Finland;Morocco white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2000, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - United States white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - F - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2001 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - - white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2000 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Unknown no - - - - DNA SEQ - - Healthy/Control - - - M - Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Germany;Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2000 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Yu et al. 2000 - - Germline no - - - - DNA SEQ - - SLOS - - since 13 years cholesterol supplementation M ? Spain white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Germline no - - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Germline no - - - - DNA SEQ - - SLOS - - - F ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998, PubMed: Witsch-Baumgartner et al. 2008 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Italy white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - - - - - - - - - - - - - - -
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - - - - - - - - - - - - - - -
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Witsch-Baumgartner et al. 2001 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? Poland white - - - - 1 Division of Human Genetics, Innsbruck
?/? 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #1 - VUS g.45411941T>C g.44908684T>C apoE4 - APOE_000001 - PubMed: Fitzky et al. 1998 - - Germline no - - - - DNA SEQ - - SLOS - - - M ? - white 00y03m - - - 1 Division of Human Genetics, Innsbruck
?/. 4 c.388T>C r.388u>c p.Cys130Arg E4 Parent #1 - VUS g.45411941T>C g.44908684T>C Cys112Arg - APOE_000001 reference haplotype apoE4 Reference Haplotype; OMIM:var0016 - rs429358 Germline - - - - - DNA, RNA SEQ - - - - - reference haplotype - - - - - - - - 1 Johan den Dunnen
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-? Journal: Holstege 2017 ? - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - - Holstege-cons Journal: Holstege 2017 1268 controls - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E3;E4 Parent #1 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E4;E4 Both (homozygous) - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E4;E4 Both (homozygous) - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
+?/. 4 c.388T>C r.(?) p.(Cys130Arg) E4 Parent #2 - likely pathogenic g.45411941T>C g.44908684T>C - - APOE_000001 - Journal: Holstege 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AD Holstege-cases Journal: Holstege 2017 640 early- and late onset AD cases - - Netherlands - - - - - 1 Henne Holstege
?/. - c.388T>C r.(?) p.(Cys130Arg) - Parent #1 - VUS g.45411941T>C g.44908684T>C - - APOE_000001 risk factor; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs429358 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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