Full data view for gene FANCD2

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

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Panel size     

Owner     
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Askri, Boeotia Amarynthos, Evia Greek no - 3 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Evia Lesvos Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kali Vrisi, Drama - Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Aigio - Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Skafidia, Ilia Nea Manolada, Ilia Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Lefkogeia, Drama & Cappadocia - Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Kyparissia Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Kalamata Greek no - 1 Despoina Kalfakakou
-/- - c.78A>C r.(?) p.(Gln26His) Parent #2 g.10074529A>C - FANCD2_000020 rs45510294 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 2 Despoina Kalfakakou
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