Full data view for gene DDB2

Information The variants shown are described using the NM_000107.2 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     

Genetic origin     

Segregation     

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.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.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.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+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.1024-18G>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