Full data view for gene CDK4

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

55 entries on 1 page. Showing entries 1 - 55.
Legend  

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     

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+35A>T r.(=) p.(=) Parent #2 g.58145248T>A - CDK4_000013 - - - - - - - DNA SEQ-NG-I 1 BrCa - M - - 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>A r.(=) p.(=) Parent #2 g.58145156C>T - CDK4_000023 rs2270777 - - - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 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.219-31G>C r.(=) p.(=) Parent #1 g.58145156C>G - CDK4_000016 rs2270777 - - - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 2 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.354+48T>C r.(=) p.(=) Parent #2 g.58144942A>G - CDK4_000005 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Evros - Greek no - 3 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.523-4T>A r.spl? p.? Parent #2 g.58144552A>T - CDK4_000018 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 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.654T>C r.(=) p.(=) Parent #2 g.58143266A>G - CDK4_000002 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 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