Full data view for gene KIT

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

251 entries on 3 pages. Showing entries 1 - 100.
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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     

Panel size     

Owner     
./. - c.-21G>T r.(=) p.(=) Parent #2 g.55524161G>T - KIT_000038 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Agiasos, Lesvos Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Patra Athens Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Amykles, Laconia - Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Gytheio, Laconia Sparta Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Larisa - Greek no - 2 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 PGL2, Pheo - M Ariada, Etolia-Akarnania - Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Karpathos / Pontus Karpathos / Pontus Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.-14T>A r.(=) p.(=) Parent #2 g.55524168T>A - KIT_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Kastoria - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Katafygi, Karditsa Pontus Greek no - 3 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Milea, Western Mani - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Myrsini, Laconia Finiki, Thesprotia Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 PNCA2 - M Larisa Macedonia Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Hydra Thera Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia, Messinia Santorini Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Assos, Corinthia Vrachati, Corinthia Greek no - 1 Despoina Kalfakakou
./. - c.67+32C>T r.(=) p.(=) Parent #2 g.55524280C>T - KIT_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Mikri Milia, Pieria - Greek no - 1 Despoina Kalfakakou
./. - c.84T>C r.(=) p.(=) Parent #2 g.55561694T>C - KIT_000028 - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.101C>T r.(?) p.(Pro34Leu) Parent #2 g.55561711C>T - KIT_000026 rs55755457 - - - DNA SEQ-NG-I 1 BrCa - M Mandra Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.123A>T r.(=) p.(=) Parent #2 g.55561733A>T - KIT_000025 rs72549300 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.146G>A r.(?) p.(Arg49His) Parent #2 g.55561756G>A - KIT_000058 - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
./. - c.146G>A r.(?) p.(Arg49His) Parent #2 g.55561756G>A - KIT_000058 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.147C>T r.(=) p.(=) Parent #2 g.55561757C>T - KIT_000018 rs72549301 - - - DNA SEQ-NG-I 1 Healthy/Control - F Constantinople - Greek no - 1 Despoina Kalfakakou
./. - c.148G>T r.(?) p.(Val50Leu) Parent #2 g.55561758G>T - KIT_000041 - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Aigio Greek no - 1 Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) Parent #2 g.55561810C>G - KIT_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) Parent #2 g.55561810C>G - KIT_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Aridia, Pella Loudias, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) Parent #2 g.55561810C>G - KIT_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Karavas, Cyprus Chios Greek no - 1 Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) Parent #2 g.55561810C>G - KIT_000019 - - - - DNA SEQ-NG-I 1 PrCa - M Vresto, Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.200C>G r.(?) p.(Thr67Ser) Parent #2 g.55561810C>G - KIT_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Halkidiki Greek no - 1 Despoina Kalfakakou
./. - c.297C>T r.(=) p.(=) Parent #2 g.55561907C>T - KIT_000035 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - F Ioannina - Greek no - 2 Despoina Kalfakakou
./. - c.297C>T r.(=) p.(=) Parent #2 g.55561907C>T - KIT_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Zevgolatio, Corinth - Greek no - 1 Despoina Kalfakakou
./. - c.337+27G>A r.(=) p.(=) Parent #2 g.55561974G>A - KIT_000068 - - - - DNA SEQ-NG-I 1 BrCa - F Kalymnos - Greek no - 1 Despoina Kalfakakou
./. - c.338-28A>G r.(=) p.(=) Parent #2 g.55564422A>G - KIT_000049 - - - - DNA SEQ-NG-I 1 - - F Alexandria, Egypt Serres Greek no - 1 Despoina Kalfakakou
./. - c.756+18_756+20del r.(=) p.(=) Parent #2 g.55565950_55565952del - KIT_000064 - - - - DNA SEQ-NG-I 1 OVCA - F Bulgaria - Greek no - 1 Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) Parent #2 g.55569881A>G - KIT_000047 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) Parent #2 g.55569881A>G - KIT_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) Parent #2 g.55569881A>G - KIT_000047 - - - - DNA SEQ-NG-I 1 OVCA - F Lamia Karystos, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.757-9A>G r.(=) p.(=) Parent #2 g.55569881A>G - KIT_000047 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Andros Greek no - 1 Despoina Kalfakakou
./. - c.821C>T r.(?) p.(Thr274Met) Parent #2 g.55569954C>T - KIT_000042 - - - - DNA SEQ-NG-I 1 OVCA - F Kiato, Corinthia - Greek no - 1 Despoina Kalfakakou
./. - c.821C>T r.(?) p.(Thr274Met) Parent #2 g.55569954C>T - KIT_000042 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.822G>A r.(=) p.(=) Parent #2 g.55569955G>A - KIT_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.910A>G r.(?) p.(Thr304Ala) Parent #2 g.55570043A>G - KIT_000021 - - - - DNA SEQ-NG-I 1 BrCa - F Kazakhstan - Greek no - 1 Despoina Kalfakakou
./. - c.925+37G>A r.(=) p.(=) Parent #2 g.55570095G>A - KIT_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa Corfu Greek no - 1 Despoina Kalfakakou
./. - c.978C>T r.(=) p.(=) Parent #2 g.55573316C>T - KIT_000048 - - - - DNA SEQ-NG-I 1 OVCA - F Heraklion Thera Greek no - 1 Despoina Kalfakakou
./. - c.1089C>T r.(=) p.(=) Parent #2 g.55573427C>T - KIT_000063 - - - - DNA SEQ-NG-I 1 OVCA - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1115+31C>T r.(=) p.(=) Parent #2 g.55573484C>T - KIT_000037 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Grevena Elassona Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Skarfeia, Phthiotis Kolaka, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia Grammatiko, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Elis Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Vlachorafti, Arcadia Pyrgos, Diro, Laconia Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Crete Kefalonia Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Paros Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 ColPol, EnPol, SkCa, TRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 CAL - F - - Greek no - 2 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 PrCa - M Gymno, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Italy - Italian no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Athens United Kingdom Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Volos - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Gryllos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.1115+41C>A r.(=) p.(=) Parent #2 g.55573494C>A - KIT_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.1187A>G r.(?) p.(Asn396Ser) Parent #2 g.55575661A>G - KIT_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Nea Koutali, Lemnos Kallithea, Lemnos Greek no - 3 Despoina Kalfakakou
./. - c.1195G>A r.(?) p.(Val399Ile) Parent #2 g.55575669G>A - KIT_000065 - - - - DNA SEQ-NG-I 1 BrCa - F Germany - German no - 1 Despoina Kalfakakou
./. - c.1199A>G r.(?) p.(Asn400Ser) Parent #2 g.55575673A>G - KIT_000003 rs72549294 - - - DNA SEQ-NG-I 1 BrCa - F Athens Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.1281A>T r.(?) p.(Gln427His) Parent #2 g.55589799A>T - KIT_000044 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Heraklion Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.1281A>T r.(?) p.(Gln427His) Parent #2 g.55589799A>T - KIT_000044 - - - - DNA SEQ-NG-I 1 OVCA - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.1347-16G>A r.(=) p.(=) Parent #2 g.55592007G>A - KIT_000057 - - - - DNA SEQ-NG-I 1 PNCA2 - F Polidroso, Parnassus - Greek no - 1 Despoina Kalfakakou
./. - c.1347-7C>A r.(=) p.(=) Parent #2 g.55592016C>A - KIT_000036 - - - - DNA SEQ-NG-I 1 GIST - F Ierapetra, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Chios Corfu Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 Polyposis - M Hydra Mykonos Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Tripoli Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 - - M Kourtaki, Argolis - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Messinia - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Serres - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Chalcis - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki Athens Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Paros / Tinos Paros / Tinos Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 CAL, NF, SRCM - M Asia Minor Didymoteicho Greek no - 4 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 CHL, GLM3 - M Karystos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 PNCA2 - M Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini Zacharo, Elis Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F İzmir Volos Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Albania – Northern Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Sifnos - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Russia Uzbekistan Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.1497G>A r.(=) p.(=) Parent #2 g.55592173G>A - KIT_000004 - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Syros - Greek no - 3 Despoina Kalfakakou
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