Full data view for gene DDB2

Information The variants shown are described using the NM_000107.2 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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.-51C>T r.(=) p.(=) Parent #2 g.47236637C>T - DDB2_000008 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 2 Despoina Kalfakakou
./. - c.-51C>T r.(=) p.(=) Parent #2 g.47236637C>T - DDB2_000008 - - - - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-36G>A r.(=) p.(=) Parent #2 g.47236652G>A - DDB2_000028 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Sitia Greek no - 1 Despoina Kalfakakou
./. - c.-31G>C r.(=) p.(=) Parent #2 g.47236657G>C - DDB2_000013 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Zagoria, Ioannina Vissani, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.-10G>A r.(=) p.(=) Parent #2 g.47236678G>A - DDB2_000014 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.-2C>A r.(=) p.(=) Parent #2 g.47236686C>A - DDB2_000017 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Selianitika, Aigio Aigio Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Larisa Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kiato, Corinthia - Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Sfakia Chania Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa, SCT - F Athens Crete Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 ColPol, LuCa, PrCa - M Messenia Varna, Bulgaria Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Cephalonia Greek no - 1 Despoina Kalfakakou
./. - c.59G>A r.(?) p.(Arg20Lys) Parent #2 g.47236746G>A - DDB2_000007 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Messinia Greek no - 1 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Koilada, Argolis Greek no - 6 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Klima, Dorida Gavrolimni, Nafpaktia Greek no - 1 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Cyclades Greek no - 1 Despoina Kalfakakou
./. - c.127+5T>G r.spl? p.? Parent #2 g.47236819T>G - DDB2_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.128-19T>C r.(=) p.(=) Parent #2 g.47237868T>C - DDB2_000029 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.128-16C>T r.(=) p.(=) Parent #2 g.47237871C>T - DDB2_000012 - - - - - - - DNA SEQ-NG-I 1 CRC - F Euboea Crete Greek no - 1 Despoina Kalfakakou
./. - c.192A>C r.(=) p.(=) Parent #2 g.47237951A>C - DDB2_000010 - - - - - - - DNA SEQ-NG-I 1 CerPol, CRC - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.192A>C r.(=) p.(=) Parent #2 g.47237951A>C - DDB2_000010 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Chrani, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.264+8A>G r.(=) p.(=) Parent #2 g.47238031A>G - DDB2_000018 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
./. - c.377C>G r.(?) p.(Thr126Ser) Parent #2 g.47238521C>G - DDB2_000021 - - - - - - - DNA SEQ-NG-I 1 - - F Chania, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.457-20T>G r.(=) p.(=) Parent #2 g.47254345T>G - DDB2_000016 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.457-20T>G r.(=) p.(=) Parent #2 g.47254345T>G - DDB2_000016 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Komotini - Greek no - 1 Despoina Kalfakakou
./. - c.571C>T r.(=) p.(=) Parent #2 g.47254479C>T - DDB2_000032 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Moschofito,Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.603-32C>T r.(=) p.(=) Parent #2 g.47256092C>T - DDB2_000033 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Limnos Serres Greek no - 1 Despoina Kalfakakou
./. - c.641G>A r.(?) p.(Arg214Gln) Parent #2 g.47256162G>A - DDB2_000022 - - - - - - - DNA SEQ-NG-I 1 - - F Patras Attika Greek no - 1 Despoina Kalfakakou
./. - c.702+9T>C r.(=) p.(=) Parent #2 g.47256232T>C - DDB2_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.702+12G>C r.(=) p.(=) Parent #2 g.47256235G>C - DDB2_000027 rs55847708 - - - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus Florina Greek no - 1 Despoina Kalfakakou
./. - c.702+12G>C r.(=) p.(=) Parent #2 g.47256235G>C - DDB2_000027 rs55847708 - - - - - - DNA SEQ-NG-I 1 OVCA - F Tripoli - Greek no - 3 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Nafplio - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 Polyposis - M Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 CRC - M Asia Minor Kozani Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 GIST - F Ierapetra, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Astakos, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Giannitsa Nymfaio, Florina Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Stamata, Attica - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 - - F Chania, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 - - F Nafplion Thiva Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Andros Limni, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 1 Despoina Kalfakakou
./. - c.738G>A r.(=) p.(=) Parent #2 g.47256343G>A - DDB2_000002 - - - - - - - DNA SEQ-NG-I 1 ENC - F Gouria, Messolonghi Stamna, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.880+9T>G r.(=) p.(=) Parent #2 g.47256494T>G - DDB2_000030 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.984G>A r.(=) p.(=) Parent #2 g.47256924G>A - DDB2_000023 - - - - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Neochori, Laconia Achladokampos, Argolis Greek no - 1 Despoina Kalfakakou
./. - c.984G>A r.(=) p.(=) Parent #2 g.47256924G>A - DDB2_000023 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1023+24C>T r.(=) p.(=) Parent #2 g.47256987C>T - DDB2_000034 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1023+25G>A r.(=) p.(=) Parent #2 g.47256988G>A - DDB2_000011 - - - - - - - DNA SEQ-NG-I 1 CRC, TonsilCa - M Dafni, Kalavryta - Greek no - 3 Despoina Kalfakakou
./. - c.1023+25G>A r.(=) p.(=) Parent #2 g.47256988G>A - DDB2_000011 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Strousi, Elis Athens Greek no - 1 Despoina Kalfakakou
./. - c.1024-24A>G r.(=) p.(=) Parent #2 g.47259364A>G - DDB2_000019 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.1024-19C>T r.(=) p.(=) Parent #2 g.47259369C>T - DDB2_000035 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1024-18G>A r.(=) p.(=) Parent #2 g.47259370G>A - DDB2_000020 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1024-8T>A r.(=) p.(=) Parent #2 g.47259380T>A - DDB2_000024 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.1034A>T r.(?) p.(His345Leu) Parent #2 g.47259398A>T - DDB2_000026 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Argos - Greek no - 1 Despoina Kalfakakou
./. - c.1034A>T r.(?) p.(His345Leu) Parent #2 g.47259398A>T - DDB2_000026 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Vagia, Thebes Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) Parent #2 g.47259417T>C - DDB2_000005 rs61741581 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) Parent #2 g.47259417T>C - DDB2_000005 rs61741581 - - - - - - DNA SEQ-NG-I 1 OVCA - F Tbilisi, Georgia - Greek no - 1 Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) Parent #2 g.47259417T>C - DDB2_000005 rs61741581 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno - Greek no - 1 Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) Parent #2 g.47259417T>C - DDB2_000005 rs61741581 - - - - - - DNA SEQ-NG-I 1 ENC, EnPol - F Krestena, Ilia Chora, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.1053T>C r.(=) p.(=) Parent #2 g.47259417T>C - DDB2_000005 rs61741581 - - - - - - DNA SEQ-NG-I 1 ENC, PNCA2, TRC - F Constantinople Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1098T>G r.(=) p.(=) Parent #2 g.47259462T>G - DDB2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.1098T>G r.(=) p.(=) Parent #2 g.47259462T>G - DDB2_000003 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Areopoli, Messinia Kardamili, Messinia Greek no - 1 Despoina Kalfakakou
./. - c.1116C>T r.(=) p.(=) Parent #2 g.47259480C>T - DDB2_000031 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Lefkada Athens Greek no - 1 Despoina Kalfakakou
./. - c.1219C>T r.(=) p.(=) Parent #2 g.47259719C>T - DDB2_000015 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Elis Lithochori, Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Nafplio - Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 CRC, Polyposis - F Filiates, Thesprotia Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Kourouklata, Cephalonia - Greek no - 1 Despoina Kalfakakou
./. - c.1228G>A r.(?) p.(Ala410Thr) Parent #2 g.47259728G>A - DDB2_000004 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres Arta Greek no - 1 Despoina Kalfakakou
./. - c.1234+39A>C r.(=) p.(=) Parent #2 g.47259773A>C - DDB2_000025 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Grevena - Greek no - 1 Despoina Kalfakakou
./. - c.*51G>A r.(=) p.(=) Parent #2 g.47260451G>A - DDB2_000009 - - - - - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
Legend