Full data view for gene FANCE

Information The variants shown are described using the NM_021922.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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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Consanguinity     

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Panel size     

Owner     
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Argos Greek no - 2 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 2 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Zante - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Kefalonia - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Milies, Magnesia - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sofades, Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Patras Kalavryta Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 - - F Crete - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BKT - F Laconia - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Vresto, Ilia - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 F, Schw - F Polistafilo, Preveza Preveza Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BonMal, CAL - M Athens Mani Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Trikala Larisa Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Alevrada, AetoliaAcarnania - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Both (homozygous) g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion Kythnos Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Nea Lampsakos, Euboea & Mytikas, Preveza Lampsakos, Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Vachlia, Arcadia Kardaritsi, Arcadia Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.1572G>A r.(=) p.(=) Parent #2 g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
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