Full data view for gene KIT

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

23 entries on 1 page. Showing entries 1 - 23.
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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     

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Owner     
-/- - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - 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 rs151016327 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 rs151016327 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Livadi, Elassona - Greek no - 2 Despoina Kalfakakou
-/- - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 rs151016327 - Germline - - - - DNA SEQ-NG - NDL, RenLes, TSC2 - M - - Greek no - 1 Despoina Kalfakakou
./. - c.1383A>G r.(=) p.(=) Parent #2 g.55592059A>G - KIT_000023 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Corum,Turkey Mikra Asia Greek - - 1 Stevi Xera
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