Full data view for gene FANCA

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

36 entries on 1 page. Showing entries 1 - 36.
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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.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Zagora, Pelion Volos Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Filiatra, Messinia - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Rodina, Elis Cephalonia Greek no - 3 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Spetses Leonidio Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 CRC, Polyposis - M Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Corfu Rethimno, Crete Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Anogia, Rethimno Chrani, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Amfilochia Corinth Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aliveri, Evia Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Papadates, Preveza - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Evia Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Gytheion, Laconia Tripoli, Arcadia Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BKT - F Laconia - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 - - F Corinthia - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Vlachogianni, Larisa - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 CRC, PNCA2 - M Psachna, Euboea - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 MDB - M Ioannina Kimolos Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Erythres, Attica Region Region Patra Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Metsovo Chios Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kranidi, Argolis - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Vourgareli, Arta Athamanio, Arta Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Haliacmon, Kozani Siatista, Kozani Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Neochori, Mesolongi - - - - 1 Despoina Kalfakakou
?/? - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
./. - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.1874G>C r.(?) p.(Cys625Ser) Parent #2 g.89842176C>G - FANCA_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
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