Full data view for gene FANCF

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

83 entries on 1 page. Showing entries 1 - 83.
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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     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.-31T>C r.(=) p.(=) Parent #2 g.22647387A>G - FANCF_000004 rs202069513 - Germline - - - - 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 rs202069513 - Germline - - - - 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 rs202069513 - Germline - - - - 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 rs202069513 - Germline - - - - 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 rs751857151 - Germline - - - - 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 rs751857151 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 rs780228540 - Germline - - - - 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 rs577253174 - Germline - - - - 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 rs577253174 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Burgas, Bulgaria Bulgaria Greek no - 1 Despoina Kalfakakou
-/- - c.148C>T r.(?) p.(Arg50Trp) Parent #2 g.22647209G>A - FANCF_000014 rs577253174 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.149G>C r.(?) p.(Arg50Pro) Parent #2 g.22647208C>G - FANCF_000018 rs371420932 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - 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 rs145057187 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thrace & Epirus ─░zmir Greek no - 1 Despoina Kalfakakou
?/? - c.241G>T r.(?) p.(Ala81Ser) Parent #2 g.22647116C>A - FANCF_000002 rs145057187 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Gouria, Messolonghi Stamna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
?/? - c.310G>T r.(?) p.(Gly104Trp) Parent #2 g.22647047C>A - FANCF_000024 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Greeks of Georgia - Greek no - 1 Despoina Kalfakakou
-/- - c.373G>A r.(?) p.(Asp125Asn) Parent #2 g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 rs907542988 - Germline - - - - 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 rs907542988 - Germline - - - - 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 rs146219377 - Germline - - - - 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 rs146219377 - Germline - - - - 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 rs146219377 - Germline - - - - 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 rs146219377 - Germline - - - - 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 rs146975768 - Germline - - - - 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 - - Germline - - - - 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 rs192534185 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
?/? - c.647G>C r.(?) p.(Arg216Pro) Parent #2 g.22646710C>G - FANCF_000015 rs192534185 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.687A>T r.(=) p.(=) Parent #2 g.22646670T>A - FANCF_000020 rs776140806 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.687A>T r.(=) p.(=) Parent #2 g.22646670T>A - FANCF_000020 rs776140806 - Germline - - - - 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 rs1565055031 - Germline - - - - 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 rs1565055031 - Germline - - - - 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 rs1565055031 - Germline - - - - 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 - - Germline - - - - 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 rs754312601 - Germline - - - - 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 rs757578045 - Germline - - - - 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 rs757578045 - Germline - - - - 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 rs757578045 - Germline - - - - 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 rs757578045 - Germline - - - - 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 rs371631248 - Germline - - - - 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 rs371631248 - Germline - - - - 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 rs371631248 - Germline - - - - DNA SEQ-NG-I 1 - - F Cythera Pieria Greek no - 1 Despoina Kalfakakou
?/? - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 rs371631248 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 4 Despoina Kalfakakou
?/? - c.936A>T r.(?) p.(Gln312His) Parent #2 g.22646421T>A - FANCF_000005 rs371631248 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
?/? - c.976C>T r.(=) p.(=) Parent #2 g.22646381G>A - FANCF_000022 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Eretria - Greek no - 1 Despoina Kalfakakou
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