Full data view for gene CDC73

Information The variants shown are described using the NM_024529.4 transcript reference sequence.

73 entries on 1 page. Showing entries 1 - 73.
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.-11_-10insT r.(=) p.(=) Parent #2 g.193091320_193091321insT - CDC73_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia - Greek no - 1 Despoina Kalfakakou
./. - c.-10G>C r.(=) p.(=) Parent #2 g.193091321G>C - CDC73_000041 rs77209391 - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.-10G>T r.(=) p.(=) Parent #2 g.193091321G>T - CDC73_000036 rs77209391 - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.33C>T r.(=) p.(=) Parent #2 g.193091363C>T - CDC73_000028 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Germany - Greek no - 1 Despoina Kalfakakou
./. - c.131+21G>A r.(=) p.(=) Parent #2 g.193091482G>A - CDC73_000021 - - - - DNA SEQ-NG-I 1 OVCA - F Vlachopoulo, Messene Liti, Thessaloniki Greek no - 3 Despoina Kalfakakou
./. - c.131+30T>C r.(=) p.(=) Parent #2 g.193091491T>C - CDC73_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Sifnos Athens Greek no - 1 Despoina Kalfakakou
./. - c.132-29_132-28insA r.(=) p.(=) Parent #2 g.193094213_193094214insA - CDC73_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Distomo, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.201G>A r.(=) p.(=) Parent #2 g.193094311G>A - CDC73_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.237+39G>A r.(=) p.(=) Parent #2 g.193094386G>A - CDC73_000015 - - - - DNA SEQ-NG-I 1 BrCa, GaPol - F Sernikaki, Phocis Arachova Greek no - 3 Despoina Kalfakakou
./. - c.238-22T>G r.(=) p.(=) Parent #2 g.193099282T>G - CDC73_000019 - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.306G>A r.(=) p.(=) Parent #2 g.193099372G>A - CDC73_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Portugal Greece Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Athens Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 BrCa, ENC - F Neochori, Domokos - Greek no - 2 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 OVCA - F Tzoumerka, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Nafplion - Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 LuCa - M Drama - Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
./. - c.307+42G>A r.(=) p.(=) Parent #2 g.193099415G>A - CDC73_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Theriso, Chania Greek no - 1 Despoina Kalfakakou
./. - c.308-16C>A r.(=) p.(=) Parent #2 g.193104505C>A - CDC73_000042 - - - - DNA SEQ-NG-I 1 OVCA - F Philippines - Greek no - 1 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.193104546C>T - CDC73_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Kalabaka Trikala Greek no - 1 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.193104546C>T - CDC73_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Methana Greek no - 1 Despoina Kalfakakou
./. - c.333C>T r.(=) p.(=) Parent #2 g.193104546C>T - CDC73_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Pili, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.424-16C>T r.(=) p.(=) Parent #2 g.193107199C>T - CDC73_000020 - - - - DNA SEQ-NG-I 1 Polyposis - M Almiros, Volos - Greek no - 3 Despoina Kalfakakou
./. - c.439C>T r.(?) p.(Arg147Cys) Parent #2 g.193107230C>T - CDC73_000035 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kymi, Euboea Mytikas, Chalkida Greek no - 1 Despoina Kalfakakou
./. - c.471G>A r.(=) p.(=) Parent #2 g.193107262G>A - CDC73_000033 - - - - DNA SEQ-NG-I 1 PNCA2 - M Lakkopetra, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.512+29G>A r.(=) p.(=) Parent #2 g.193107332G>A - CDC73_000039 - - - - DNA SEQ-NG-I 1 OVCA - F Koronida , Naxos - Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 ColPol, GaPol, TRC - F Elefsina Kalymnos Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 GC - M Neapoli, Laconia Metsovo Greek-Romanian no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Komotini - Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Asia Minor & Euboea Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Vilvina, Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 OVCA - F VolosĀ  - Greek no - 1 Despoina Kalfakakou
./. - c.512+35T>C r.(=) p.(=) Parent #2 g.193107338T>C - CDC73_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Andros Greek no - 1 Despoina Kalfakakou
./. - c.512+50G>T r.(=) p.(=) Parent #2 g.193107353G>T - CDC73_000025 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Heraklion Greek no - 1 Despoina Kalfakakou
./. - c.512+50G>T r.(=) p.(=) Parent #2 g.193107353G>T - CDC73_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Thessalia & Larisa Aitoliko, AetoliaAcarnania Greek no - 1 Despoina Kalfakakou
./. - c.654A>G r.(=) p.(=) Parent #2 g.193111121A>G - CDC73_000031 - - - - DNA SEQ-NG-I 1 MDB - F Kefalonia Neapoli, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.729+18C>T r.(=) p.(=) Parent #2 g.193111214C>T - CDC73_000026 - - - - DNA SEQ-NG-I 1 BrCa - F Arachnaio, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.730-25T>A r.(=) p.(=) Parent #2 g.193116972T>A - CDC73_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Asia Minor Greek no - 2 Despoina Kalfakakou
./. - c.754A>G r.(?) p.(Ile252Val) Parent #2 g.193117021A>G - CDC73_000008 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.754A>G r.(?) p.(Ile252Val) Parent #2 g.193117021A>G - CDC73_000008 - - - - DNA SEQ-NG-I 1 BrCa - F Myticas, Aetolia-Acarnania Meganisi, Lefkas Greek no - 1 Despoina Kalfakakou
./. - c.907+40T>A r.(=) p.(=) Parent #2 g.193119552T>A - CDC73_000030 - - - - DNA SEQ-NG-I 1 PrCa - M Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.907+40T>A r.(=) p.(=) Parent #2 g.193119552T>A - CDC73_000030 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Boeotia Athens Greek no - 1 Despoina Kalfakakou
./. - c.908-25A>G r.(=) p.(=) Parent #2 g.193121485A>G - CDC73_000009 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Sparti Greek no - 1 Despoina Kalfakakou
./. - c.908-25A>G r.(=) p.(=) Parent #2 g.193121485A>G - CDC73_000009 - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Constantinople Smyrna Greek no - 1 Despoina Kalfakakou
./. - c.908-25A>G r.(=) p.(=) Parent #2 g.193121485A>G - CDC73_000009 - - - - DNA SEQ-NG-I 1 PGL2 - M Piraeus Smyrna, Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.908-25A>G r.(=) p.(=) Parent #2 g.193121485A>G - CDC73_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Michalitsi, Ioannina Koroni, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.908-25A>G r.(=) p.(=) Parent #2 g.193121485A>G - CDC73_000009 - - - - DNA SEQ-NG-I 1 OVCA - F Kastoria - Greek no - 1 Despoina Kalfakakou
./. - c.908-13del r.(=) p.(=) Parent #2 g.193121497del - CDC73_000038 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.966T>C r.(=) p.(=) Parent #2 g.193121568T>C - CDC73_000037 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.989G>A r.(?) p.(Arg330Gln) Parent #2 g.193172941G>A - CDC73_000029 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Agrinio - Greek no - 4 Despoina Kalfakakou
./. - c.1013A>C r.(?) p.(Gln338Pro) Parent #2 g.193172965A>C - CDC73_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Crete Greek no - 1 Despoina Kalfakakou
./. - c.1030+51T>A r.(=) p.(=) Parent #2 g.193173033T>A - CDC73_000032 - - - - DNA SEQ-NG-I 1 MDB - F Kefalonia Neapoli, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.1031-20_1031-19insT r.(=) p.(=) Parent #2 g.193181175_193181176insT - CDC73_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Valimitika, Aigio Kymi, Evia Greek no - 3 Despoina Kalfakakou
./. - c.1031-19del r.(=) p.(=) Parent #2 g.193181176del - CDC73_000034 - - - - DNA SEQ-NG-I 1 PNCA2 - M Volos Pontus Greek no - 1 Despoina Kalfakakou
./. - c.1031-18T>G r.(=) p.(=) Parent #2 g.193181177T>G - CDC73_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Izmir Cyclades Greek no - 1 Despoina Kalfakakou
./. - c.1066+51C>T r.(=) p.(=) Parent #2 g.193181281C>T - CDC73_000011 rs41305060 - - - DNA SEQ-NG-I 1 OVCA - F Epirus Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.1154+48T>C r.(=) p.(=) Parent #2 g.193181655T>C - CDC73_000024 - - - - DNA SEQ-NG-I 1 PrCa - M Zaros, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.1236G>A r.(?) p.(Met412Ile) Parent #2 g.193202204G>A - CDC73_000017 - - - - DNA SEQ-NG-I 1 Polyposis - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1236G>A r.(?) p.(Met412Ile) Parent #2 g.193202204G>A - CDC73_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Epirus Evia Greek no - 1 Despoina Kalfakakou
./. - c.1236G>A r.(?) p.(Met412Ile) Parent #2 g.193202204G>A - CDC73_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Armenia Greek no - 1 Despoina Kalfakakou
./. - c.1236G>A r.(?) p.(Met412Ile) Parent #2 g.193202204G>A - CDC73_000017 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.1236G>A r.(?) p.(Met412Ile) Parent #2 g.193202204G>A - CDC73_000017 - - - - DNA SEQ-NG-I 1 MDB - M Athens Chalkida Greek no - 1 Despoina Kalfakakou
./. - c.1390G>A r.(?) p.(Gly464Arg) Parent #2 g.193205459G>A - CDC73_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1417+49_1417+52del r.(=) p.(=) Parent #2 g.193205535_193205538del - CDC73_000040 - - - - DNA SEQ-NG-I 1 BrCa - F Rizomata, Imathia - Greek no - 1 Despoina Kalfakakou
./. - c.1418-28T>C r.(=) p.(=) Parent #2 g.193218832T>C - CDC73_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.1418-10C>G r.(=) p.(=) Parent #2 g.193218850C>G - CDC73_000013 - - - - DNA SEQ-NG-I 1 BrCa, MNGM - F Evrytania Agrinio Greek no - 1 Despoina Kalfakakou
./. - c.*12C>A r.(=) p.(=) Parent #2 g.193219854C>A - CDC73_000018 - - - - DNA SEQ-NG-I 1 Polyposis - F Athens - Greek no - 3 Despoina Kalfakakou
./. - c.*12C>A r.(=) p.(=) Parent #2 g.193219854C>A - CDC73_000018 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.*12C>A r.(=) p.(=) Parent #2 g.193219854C>A - CDC73_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Karya, Elassona Kallipefki, Larisa Greek no - 1 Despoina Kalfakakou
Legend