Full data view for gene FANCG

Information The variants shown are described using the NM_004629.1 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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     

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Owner     
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Xanthi Ioannina Greek no - 3 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 2 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 Healthy/Control - F Alexandroupoli Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 ColPol, CRC - F Corfu Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Chania Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 2 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 2 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Cyclades Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Cyclades Mytilene Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Both (homozygous) g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 3 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 PrCa - M Vresto, Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 PNCA2 - F Corfu Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Cephalonia Greek no - 1 Despoina Kalfakakou
./. - c.65G>A r.(?) p.(Arg22Gln) Parent #2 g.35079457C>T - FANCG_000014 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kavala Chios Greek no - 1 Despoina Kalfakakou
./. - c.76C>T r.(?) p.(Gln26*) Parent #2 g.35079446G>A - FANCG_000024 - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.77A>G r.(?) p.(Gln26Arg) Parent #2 g.35079445T>C - FANCG_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Pella - Greek no - 1 Despoina Kalfakakou
./. - c.77A>G r.(?) p.(Gln26Arg) Parent #2 g.35079445T>C - FANCG_000020 - - - - DNA SEQ-NG-I 1 BrCa - M Agia, Kydonia, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.85-18C>T r.(=) p.(=) Parent #2 g.35079256G>A - FANCG_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.308-11A>G r.(=) p.(=) Parent #2 g.35078351T>C - FANCG_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.421C>T r.(?) p.(Arg141Cys) Parent #2 g.35078227G>A - FANCG_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Meganisi, Lefkada - Greek no - 4 Despoina Kalfakakou
./. - c.421C>T r.(?) p.(Arg141Cys) Parent #2 g.35078227G>A - FANCG_000002 - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Asia Minor Rethimno Greek no - 1 Despoina Kalfakakou
./. - c.486A>T r.(?) p.(Leu162Phe) Parent #2 g.35078162T>A - FANCG_000029 - - - - DNA SEQ-NG-I 1 ENC - F Patras Konitsa Greek no - 1 Despoina Kalfakakou
./. - c.646+12A>G r.(=) p.(=) Parent #2 g.35077249T>C - FANCG_000018 rs17878604 - - - DNA SEQ-NG-I 1 BrCa - F Karpathos - Greek no - 1 Despoina Kalfakakou
./. - c.647-16C>A r.(=) p.(=) Parent #2 g.35077114G>T - FANCG_000033 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.647-16C>A r.(=) p.(=) Parent #2 g.35077114G>T - FANCG_000033 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.819G>A r.(=) p.(=) Parent #2 g.35076826C>T - FANCG_000032 - - - - DNA SEQ-NG-I 1 PGL2 - F Rhodes - Greek no - 4 Despoina Kalfakakou
./. - c.924+31G>A r.(=) p.(=) Parent #2 g.35076690C>T - FANCG_000037 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.924+31G>A r.(=) p.(=) Parent #2 g.35076690C>T - FANCG_000037 - - - - DNA SEQ-NG-I 1 BrCa - F Evraiki, Chios Volos Greek no - 1 Despoina Kalfakakou
./. - c.925-50A>C r.(=) p.(=) Parent #2 g.35076630T>G - FANCG_000013 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.925-23C>A r.(=) p.(=) Parent #2 g.35076603G>T - FANCG_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.955C>A r.(?) p.(Pro319Thr) Parent #2 g.35076550G>T - FANCG_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Domvraina, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.1076+36C>T r.(=) p.(=) Parent #2 g.35076393G>A - FANCG_000030 - - - - DNA SEQ-NG-I 1 - - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1076+36C>T r.(=) p.(=) Parent #2 g.35076393G>A - FANCG_000030 - - - - DNA SEQ-NG-I 1 AGCa, TRC - F Livadia Petroupoli, Attika Greek no - 1 Despoina Kalfakakou
./. - c.1120T>C r.(=) p.(=) Parent #2 g.35075982A>G - FANCG_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Rodina, Elis Cephalonia Greek no - 3 Despoina Kalfakakou
./. - c.1192T>C r.(=) p.(=) Parent #2 g.35075703A>G - FANCG_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Perigiali, Corinth Kavala Greek no - 3 Despoina Kalfakakou
./. - c.1192T>C r.(=) p.(=) Parent #2 g.35075703A>G - FANCG_000012 - - - - DNA SEQ-NG-I 1 HMGM, Pheo, PNCA2, RCC - F Epiniana, Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.1260G>C r.(?) p.(Leu420Phe) Parent #2 g.35075635C>G - FANCG_000003 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1297C>T r.(?) p.(Arg433Trp) Parent #2 g.35075598G>A - FANCG_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Astakos, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.1367A>T r.(?) p.(His456Leu) Parent #2 g.35075528T>A - FANCG_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 2 Despoina Kalfakakou
./. - c.1367A>T r.(?) p.(His456Leu) Parent #2 g.35075528T>A - FANCG_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1367A>T r.(?) p.(His456Leu) Parent #2 g.35075528T>A - FANCG_000004 - - - - DNA SEQ-NG-I 1 ColPol, GC - F Aris, Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.1367A>T r.(?) p.(His456Leu) Parent #2 g.35075528T>A - FANCG_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.1367A>T r.(?) p.(His456Leu) Parent #2 g.35075528T>A - FANCG_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1480+40T>C r.(=) p.(=) Parent #2 g.35075236A>G - FANCG_000035 - - - - DNA SEQ-NG-I 1 OVCA - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.1481-36G>A r.(=) p.(=) Parent #2 g.35075115C>T - FANCG_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Kato Achaia Thessaly Greek no - 1 Despoina Kalfakakou
./. - c.1481-23T>C r.(=) p.(=) Parent #2 g.35075102A>G - FANCG_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.1492A>C r.(?) p.(Asn498His) Parent #2 g.35075068T>G - FANCG_000015 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Zante - Greek no - 1 Despoina Kalfakakou
./. - c.1492A>C r.(?) p.(Asn498His) Parent #2 g.35075068T>G - FANCG_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Diavolitsi, Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.1492A>C r.(?) p.(Asn498His) Parent #2 g.35075068T>G - FANCG_000015 - - - - DNA SEQ-NG-I 1 GC - F Vounario, Ilia Epitalio, Ilia Greek no - 1 Despoina Kalfakakou
./. - c.1498G>A r.(?) p.(Glu500Lys) Parent #2 g.35075062C>T - FANCG_000036 - - - - DNA SEQ-NG-I 1 OVCA - F Michalitsi, Ioannina Koroni, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.1498G>A r.(?) p.(Glu500Lys) Parent #2 g.35075062C>T - FANCG_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Bulgaria - Bulgarian no - 1 Despoina Kalfakakou
./. - c.1498G>A r.(?) p.(Glu500Lys) Parent #2 g.35075062C>T - FANCG_000036 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Arta Greek no - 1 Despoina Kalfakakou
./. - c.1544C>T r.(?) p.(Ala515Val) Parent #2 g.35075016G>A - FANCG_000011 - - - - DNA SEQ-NG-I 1 BrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.1545C>T r.(=) p.(=) Parent #2 g.35075015G>A - FANCG_000016 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Egypt - Egyptian no - 1 Despoina Kalfakakou
./. - c.1614C>A r.(=) p.(=) Parent #2 g.35074946G>T - FANCG_000031 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Lamia Greek no - 1 Despoina Kalfakakou
./. - c.1637-27A>G r.(=) p.(=) Parent #2 g.35074518T>C - FANCG_000039 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Lesbos Crete Greek no - 1 Despoina Kalfakakou
./. - c.1637-24C>G r.(=) p.(=) Parent #2 g.35074515G>C - FANCG_000010 - - - - DNA SEQ-NG-I 1 OVCA - F Evrytania - Greek no - 1 Despoina Kalfakakou
./. - c.1637-24_1637-23del r.(=) p.(=) Parent #2 g.35074514_35074515del - FANCG_000023 rs56217414 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1638T>C r.(=) p.(=) Parent #2 g.35074490A>G - FANCG_000019 rs45537335 - - - DNA SEQ-NG-I 1 BrCa - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.1700C>T r.(?) p.(Ala567Val) Parent #2 g.35074428G>A - FANCG_000038 - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.1761-44C>T r.(=) p.(=) Parent #2 g.35074257G>A - FANCG_000034 - - - - DNA SEQ-NG-I 1 BladCa, OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1761-28C>A r.(=) p.(=) Parent #2 g.35074241G>T - FANCG_000009 - - - - DNA SEQ-NG-I 1 BrCa, PrCa, SIC, SkCa - M Evia - Greek no - 1 Despoina Kalfakakou
./. - c.1761-28C>A r.(=) p.(=) Parent #2 g.35074241G>T - FANCG_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Aptera, Chania - Greek no - 5 Despoina Kalfakakou
./. - c.1761-28C>A r.(=) p.(=) Parent #2 g.35074241G>T - FANCG_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
./. - c.1761-28C>A r.(=) p.(=) Parent #2 g.35074241G>T - FANCG_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Orestias - Greek no - 1 Despoina Kalfakakou
./. - c.1761G>T r.(?) p.(Trp587Cys) Parent #2 g.35074213C>A - FANCG_000022 - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
./. - c.1801C>T r.(?) p.(Arg601Cys) Parent #2 g.35074173G>A - FANCG_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Farsala Kilkis Greek no - 1 Despoina Kalfakakou
./. - c.1814G>A r.(?) p.(Arg605His) Parent #2 g.35074160C>T - FANCG_000028 - - - - DNA SEQ-NG-I 1 - - F Levidi, Arcadia Prinos, Thasos Greek no - 1 Despoina Kalfakakou
Legend