Full data view for gene FANCG

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

77 entries on 1 page. Showing entries 1 - 77.
Legend  

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.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Cephalonia Greek no - 1 Despoina Kalfakakou
-/- - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 2 Despoina Kalfakakou
-/- - c.20C>T r.(?) p.(Ser7Phe) Parent #2 g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tourkolekas, Arcadia - Greek no - 1 Despoina Kalfakakou
?/? - c.65G>A r.(?) p.(Arg22Gln) Parent #2 g.35079457C>T - FANCG_000014 - - Germline - - - - 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 - - Germline - - - - 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 rs200677800 - Germline - - - - 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 rs200677800 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.77A>G r.(?) p.(Gln26Arg) Parent #2 g.35079445T>C - FANCG_000020 rs200677800 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Agia Varvara, Attica - Greek no - 3 Despoina Kalfakakou
?/? - c.85-18C>T r.(=) p.(=) Parent #2 g.35079256G>A - FANCG_000026 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Grevena Peloponnese Greek no - 1 Despoina Kalfakakou
?/? - c.138A>C r.(=) p.(=) Parent #2 g.35079185T>G - FANCG_000041 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
?/? - c.308-11A>G r.(=) p.(=) Parent #2 g.35078351T>C - FANCG_000027 - - Germline - - - - 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 rs201153812 - Germline - - - - 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 rs201153812 - Germline - - - - 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 rs779677132 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.819G>A r.(=) p.(=) Parent #2 g.35076826C>T - FANCG_000032 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs1459299398 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs183777537 - Germline - - - - 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 rs148808709 - Germline - - - - 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 rs148808709 - Germline - - - - 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 rs148808709 - Germline - - - - 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 rs148808709 - Germline - - - - 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 rs148808709 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs748364103 - Germline - - - - 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 rs748364103 - Germline - - - - 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 rs748364103 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 rs1234056214 - Germline - - - - 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 rs201422773 - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Halkidiki - Greek no - 1 Despoina Kalfakakou
?/? - c.1761-51C>T r.(=) p.(=) Parent #2 g.35074264G>A - FANCG_000040 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Messini - Greek no - 5 Despoina Kalfakakou
?/? - c.1761-44C>T r.(=) p.(=) Parent #2 g.35074257G>A - FANCG_000034 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - 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 - - Germline - - - - DNA SEQ-NG-I 1 - - F Levidi, Arcadia Prinos, Thasos Greek no - 1 Despoina Kalfakakou
Legend