Full data view for gene FANCF

Information The variants shown are described using the NM_022725.3 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Athens Greek no - 1 Despoina Kalfakakou
./. - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Villia, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Epanomi, Thessaloniki Pontokerasia, Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 - - - - DNA SEQ-NG-I 1 BladCa, BrCa, HNSCC - M Epanomi, Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa Grevena Greek no - 1 Despoina Kalfakakou
./. - c.-21A>G r.(=) p.(=) Parent #2 g.22647377T>C - FANCF_000010 - - - - DNA SEQ-NG-I 1 CRC - M Tripiti, Olympia Ilia Greek no - 1 Despoina Kalfakakou
./. - c.-21A>G r.(=) p.(=) Parent #2 g.22647377T>C - FANCF_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.-10C>G r.(=) p.(=) Parent #2 g.22647366G>C - FANCF_000003 rs3740615 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-10C>G r.(=) p.(=) Parent #2 g.22647366G>C - FANCF_000003 rs3740615 - - - DNA SEQ-NG-I 1 BrCa - F Greece Scandinavia Greek no - 1 Despoina Kalfakakou
./. - c.-10C>G r.(=) p.(=) Parent #2 g.22647366G>C - FANCF_000003 rs3740615 - - - DNA SEQ-NG-I 1 Polyposis, TRC - M Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.101C>T r.(?) p.(Ala34Val) Parent #2 g.22647256G>A - FANCF_000013 - - - - DNA SEQ-NG-I 1 CRC - F Corfu Rethimno, Crete Greek no - 1 Despoina Kalfakakou
./. - c.148C>T r.(?) p.(Arg50Trp) Parent #2 g.22647209G>A - FANCF_000014 - - - - DNA SEQ-NG-I 1 ColPol - M Kefalonia Crete Greek no - 1 Despoina Kalfakakou
./. - c.148C>T r.(?) p.(Arg50Trp) Parent #2 g.22647209G>A - FANCF_000014 - - - - DNA SEQ-NG-I 1 OVCA - F Burgas, Bulgaria Bulgaria Greek no - 1 Despoina Kalfakakou
./. - c.149G>C r.(?) p.(Arg50Pro) Parent #2 g.22647208C>G - FANCF_000018 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa, PANCA - F Neochori, Laconia Gytheio, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 Polyposis - F Euboea - Greek no - 2 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos Naxos Greek no - 5 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Milos Lavrio Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Thiva Athens Greek no - 2 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Polikarpi, Pella Chania Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 HNSCC, PrCa - M Agrafa Thrace Greek no - 2 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrainCa - M Volod Kastoria Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace & Epirus ─░zmir Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Izmir Athens Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Larisa East Thrace Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Izmir Patra Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Mandra - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - M Kyparissia Preveza Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 OVCA, PANCA - F Lefkogeia, Drama & Cappadocia - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Crete Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 Healthy/Control - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Lista, Thesprotia - Greek no - 2 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Germany Ierapetra Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Serres Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 - - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrainCa - M Kavala Paphos, Cyprus Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 OVCA - F Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 OVCA - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 OVCA, SkCa - F Rethimno Kyparissia, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Vourgareli, Arta Athamanio, Arta Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Trikala Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - - - DNA SEQ-NG-I 1 BrCa - F Attalia, Turkey Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.385C>G r.(?) p.(Leu129Val) Parent #2 g.22646972G>C - FANCF_000016 rs61753271 - - - DNA SEQ-NG-I 1 BrCa - F Argos Orestiko Kalo Nero, Larisa Greek no - 1 Despoina Kalfakakou
./. - c.448G>A r.(?) p.(Gly150Ser) Parent #2 g.22646909C>T - FANCF_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Argos - Greek no - 1 Despoina Kalfakakou
./. - c.448G>C r.(?) p.(Gly150Arg) Parent #2 g.22646909C>G - FANCF_000021 - - - - DNA SEQ-NG-I 1 MNGM - M Asia Minor Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.573C>G r.(?) p.(Ser191Arg) Parent #2 g.22646784G>C - FANCF_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Athens Greek no - 1 Despoina Kalfakakou
./. - c.573C>G r.(?) p.(Ser191Arg) Parent #2 g.22646784G>C - FANCF_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Villia, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.573C>G r.(?) p.(Ser191Arg) Parent #2 g.22646784G>C - FANCF_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Epanomi, Thessaloniki Pontokerasia, Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.573C>G r.(?) p.(Ser191Arg) Parent #2 g.22646784G>C - FANCF_000007 - - - - DNA SEQ-NG-I 1 BladCa, BrCa, HNSCC - M Epanomi, Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.573C>G r.(?) p.(Ser191Arg) Parent #2 g.22646784G>C - FANCF_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa Grevena Greek no - 1 Despoina Kalfakakou
./. - c.633G>T r.(?) p.(Gln211His) Parent #2 g.22646724C>A - FANCF_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Mavrothalassa, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.639T>C r.(=) p.(=) Parent #2 g.22646718A>G - FANCF_000019 - - - - DNA SEQ-NG-I 1 BrCa, MNGM - F Lasithi Plateau - Greek no - 1 Despoina Kalfakakou
./. - c.647G>C r.(?) p.(Arg216Pro) Parent #2 g.22646710C>G - FANCF_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
./. - c.687A>T r.(=) p.(=) Parent #2 g.22646670T>A - FANCF_000020 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.687A>T r.(=) p.(=) Parent #2 g.22646670T>A - FANCF_000020 - - - - DNA SEQ-NG-I 1 OVCA - F Skepasto, Thessaloniki Therma, Serres Greek no - 1 Despoina Kalfakakou
./. - c.699G>A r.(=) p.(=) Parent #2 g.22646658C>T - FANCF_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Laconia Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.699G>A r.(=) p.(=) Parent #2 g.22646658C>T - FANCF_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.699G>A r.(=) p.(=) Parent #2 g.22646658C>T - FANCF_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Arna, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.802C>G r.(?) p.(Pro268Ala) Parent #2 g.22646555G>C - FANCF_000017 - - - - DNA SEQ-NG-I 1 OVCA - F Chalcis - Greek no - 1 Despoina Kalfakakou
./. - c.807G>A r.(=) p.(=) Parent #2 g.22646550C>T - FANCF_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
./. - c.873A>G r.(=) p.(=) Parent #2 g.22646484T>C - FANCF_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Athens Greek no - 1 Despoina Kalfakakou
./. - c.873A>G r.(=) p.(=) Parent #2 g.22646484T>C - FANCF_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio Villia, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.873A>G r.(=) p.(=) Parent #2 g.22646484T>C - FANCF_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Epanomi, Thessaloniki Pontokerasia, Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.873A>G r.(=) p.(=) Parent #2 g.22646484T>C - FANCF_000006 - - - - DNA SEQ-NG-I 1 BladCa, BrCa, HNSCC - M Epanomi, Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.873A>G r.(=) p.(=) Parent #2 g.22646484T>C - FANCF_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Larisa Grevena Greek no - 1 Despoina Kalfakakou
./. - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kasos - Greek no - 2 Despoina Kalfakakou
./. - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Kasos - Greek no - 2 Despoina Kalfakakou
./. - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Alexandria, Egypt Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 - - - - DNA SEQ-NG-I 1 - - F Cythera Pieria Greek no - 1 Despoina Kalfakakou
./. - c.976C>T r.(=) p.(=) Parent #2 g.22646381G>A - FANCF_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Pontians of Russia - Greek no - 1 Despoina Kalfakakou
./. - c.1115G>A r.(?) p.(Ser372Asn) Parent #2 g.22646242C>T - FANCF_000011 - - - - DNA SEQ-NG-I 1 CRC - M Eretria - Greek no - 1 Despoina Kalfakakou
Legend