Full data view for gene CDK4

Information The variants shown are described using the NM_000075.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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.60G>A r.(=) p.(=) Parent #2 g.58145441C>T - CDK4_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion Kythnos Greek no - 1 Despoina Kalfakakou
./. - c.217C>G r.(?) p.(Arg73Gly) Parent #2 g.58145284G>C - CDK4_000022 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Sfelinos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.218+35A>T r.(=) p.(=) Parent #2 g.58145248T>A - CDK4_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Kamares, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.218+35A>T r.(=) p.(=) Parent #2 g.58145248T>A - CDK4_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Krestena, Elis Derveni, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.218+35A>T r.(=) p.(=) Parent #2 g.58145248T>A - CDK4_000013 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.218+48A>T r.(=) p.(=) Parent #2 g.58145235T>A - CDK4_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Ampelonas, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.219-43T>C r.(=) p.(=) Parent #2 g.58145168A>G - CDK4_000019 - - - - DNA SEQ-NG-I 1 OVCA - F Corfu Megalopolis, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.219-31G>C r.(=) p.(=) Parent #2 g.58145156C>G - CDK4_000016 rs2270777 - - - DNA SEQ-NG-I 1 PNCA2 - M Kritsa, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.219-31G>C r.(=) p.(=) Parent #2 g.58145156C>G - CDK4_000016 rs2270777 - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki - Greek no - 1 Despoina Kalfakakou
./. - c.219-25_219-24insTTGA r.(=) p.(=) Parent #2 g.58145149_58145150insTCAA - CDK4_000017 - - - - DNA SEQ-NG-I 1 BrCa, PNCA2 - F Karpathos Samos Greek no - 1 Despoina Kalfakakou
./. - c.219-17G>C r.(=) p.(=) Parent #2 g.58145142C>G - CDK4_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Ancient Epidavros - Greek no - 3 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Raches, Gortynia Athens Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - M Rodolivos, Serres - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F İstanbul - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Argostoli Patra Greek no - 3 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Elis Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Karditsa Tithorea, Phthiotis Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 PrCa - M Zaros, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Temenia, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Kapnofyto, Serres Sidirokastro, Serres Greek no - 8 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 PGL2 - F Vargiades, Ioannina Achladea, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 PrCa - M Thasos - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 CMM3, OVCA - F Boeotia Athens Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Albania – Northern Epirus - Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Dafnos, Phocis Dimitra, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Athens United Kingdom Greek no - 1 Despoina Kalfakakou
./. - c.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.409G>A r.(?) p.(Val137Ile) Parent #2 g.58144819C>T - CDK4_000001 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.447A>G r.(=) p.(=) Parent #2 g.58144781T>C - CDK4_000010 rs2069501 - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
./. - c.447A>G r.(=) p.(=) Parent #2 g.58144781T>C - CDK4_000010 rs2069501 - - - DNA SEQ-NG-I 1 - - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.460G>C r.(?) p.(Val154Leu) Parent #2 g.58144768C>G - CDK4_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Nea Artaki, Chalkida - Greek no - 1 Despoina Kalfakakou
./. - c.460G>C r.(?) p.(Val154Leu) Parent #2 g.58144768C>G - CDK4_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Veroia Edessa Greek no - 1 Despoina Kalfakakou
./. - c.523-30G>A r.(=) p.(=) Parent #2 g.58144578C>T - CDK4_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Sparti Messinia Greek no - 1 Despoina Kalfakakou
./. - c.523-30G>A r.(=) p.(=) Parent #2 g.58144578C>T - CDK4_000003 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Elis Kalamata Greek no - 6 Despoina Kalfakakou
./. - c.523-30G>A r.(=) p.(=) Parent #2 g.58144578C>T - CDK4_000003 - - - - DNA SEQ-NG-I 1 OVCA - F Platanos, Kissamos, Chania - Greek no - 8 Despoina Kalfakakou
./. - c.523-4T>A r.spl? p.? Parent #2 g.58144552A>T - CDK4_000018 - - - - DNA SEQ-NG-I 1 PNCA2 - F Kastellia, Phocis Vargiani, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.626G>A r.(?) p.(Arg209His) Parent #2 g.58144445C>T - CDK4_000021 - - - - DNA SEQ-NG-I 1 BrCa, RCC - F Mytilene Sparta Greek no - 1 Despoina Kalfakakou
./. - c.654T>C r.(=) p.(=) Parent #2 g.58143266A>G - CDK4_000002 - - - - DNA SEQ-NG-I 1 BrCa - F Sitomena, Aetolia-Acarnania Malevro, Aetolia-Acarnania Greek no - 1 Despoina Kalfakakou
./. - c.683+36T>C r.(=) p.(=) Parent #2 g.58143201A>G - CDK4_000014 - - - - DNA SEQ-NG-I 1 BrCa, ColPol - F Potidaneia, Phocis Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.684-4A>T r.spl? p.? Parent #2 g.58143104T>A - CDK4_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Elis - Greek no - 1 Despoina Kalfakakou
./. - c.684-4A>T r.spl? p.? Parent #2 g.58143104T>A - CDK4_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.684-4A>T r.spl? p.? Parent #2 g.58143104T>A - CDK4_000007 - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Kalavryta Patra Greek no - 2 Despoina Kalfakakou
./. - c.684-4A>T r.spl? p.? Parent #2 g.58143104T>A - CDK4_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Katerini Thalames, Messenia Greek no - 1 Despoina Kalfakakou
./. - c.696G>A r.(=) p.(=) Parent #2 g.58143088C>T - CDK4_000009 rs2227953 - - - DNA SEQ-NG-I 1 ColPol, Polyposis - M Messene, Messenia Armenia Greek no - 1 Despoina Kalfakakou
./. - c.696G>A r.(=) p.(=) Parent #2 g.58143088C>T - CDK4_000009 rs2227953 - - - DNA SEQ-NG-I 1 - - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.727T>C r.(?) p.(Ser243Pro) Parent #2 g.58143057A>G - CDK4_000008 - - - - DNA SEQ-NG-I 1 BrCa - M Narte Vlore, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.753C>A r.(=) p.(=) Parent #2 g.58143031G>T - CDK4_000015 - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
./. - c.863G>A r.(?) p.(Arg288Gln) Parent #2 g.58142357C>T - CDK4_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Karystos, Evia - Greek no - 1 Despoina Kalfakakou
Legend