Full data view for gene CDKN2A

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

45 entries on 1 page. Showing entries 1 - 45.
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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.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 BrCa, LuCa - F Plagia, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Symi Leros Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Patra Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 RCC - M Athens Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 - - F Kalamata Ilia Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 PrCa - M Vresto, Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.-33G>C r.(=) p.(=) Parent #2 g.21974859C>G - CDKN2A_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Livadeia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.-25C>T r.(=) p.(=) Parent #2 g.21974851G>A - CDKN2A_000025 - - - - DNA SEQ-NG-I 1 PrCa - M Vresto, Ilia - Greek no - 1 Despoina Kalfakakou
./. - c.-25C>T r.(=) p.(=) Parent #2 g.21974851G>A - CDKN2A_000025 - - - - DNA SEQ-NG-I 1 OVCA - F Nafplion Kea Greek no - 1 Despoina Kalfakakou
./. - c.-7G>A r.(=) p.(=) Parent #2 g.21974833C>T - CDKN2A_000008 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Ankara Greek no - 1 Despoina Kalfakakou
./. - c.-6A>G r.(=) p.(=) Parent #2 g.21974832T>C - CDKN2A_000007 - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Ankara Greek no - 1 Despoina Kalfakakou
./. - c.69T>G r.(=) p.(=) Parent #2 g.21974758A>C - CDKN2A_000027 - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Evia - Greek no - 1 Despoina Kalfakakou
./. - c.71G>C r.(?) p.(Arg24Pro) Parent #2 g.21974756C>G - CDKN2A_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.107C>T r.(?) p.(Ala36Val) Parent #2 g.21974720G>A - CDKN2A_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Salamina - Greek no - 1 Despoina Kalfakakou
./. - c.107C>T r.(?) p.(Ala36Val) Parent #2 g.21974720G>A - CDKN2A_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Dafni, Kalavryta Athens Greek no - 2 Despoina Kalfakakou
./. - c.150+37G>C r.(=) p.(=) Parent #2 g.21974640C>G - CDKN2A_000016 rs45456595 - - - DNA SEQ-NG-I 1 BrCa - F Greece Scandinavia Greek no - 1 Despoina Kalfakakou
./. - c.150+37G>C r.(=) p.(=) Parent #2 g.21974640C>G - CDKN2A_000016 rs45456595 - - - DNA SEQ-NG-I 1 PrCa - M Armenades, Corfu - Greek no - 1 Despoina Kalfakakou
./. - c.150+37G>C r.(=) p.(=) Parent #2 g.21974640C>G - CDKN2A_000016 rs45456595 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.150+37G>C r.(=) p.(=) Parent #2 g.21974640C>G - CDKN2A_000016 rs45456595 - - - DNA SEQ-NG-I 1 OVCA - F Tithorea, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.151-18T>C r.(=) p.(=) Parent #2 g.21971225A>G - CDKN2A_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.151-18T>C r.(=) p.(=) Parent #2 g.21971225A>G - CDKN2A_000015 - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - F Nafpaktos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.151-13T>C r.(=) p.(=) Parent #2 g.21971220A>G - CDKN2A_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Pyrgos, Elis Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.151-13T>C r.(=) p.(=) Parent #2 g.21971220A>G - CDKN2A_000014 - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - F Nafpaktos Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.170C>A r.(?) p.(Ala57Asp) Parent #2 g.21971188G>T - CDKN2A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.170C>A r.(?) p.(Ala57Asp) Parent #2 g.21971188G>T - CDKN2A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Germany Ierapetra Greek no - 1 Despoina Kalfakakou
./. - c.170C>A r.(?) p.(Ala57Asp) Parent #2 g.21971188G>T - CDKN2A_000005 - - - - DNA SEQ-NG-I 1 BrCa - F Xiro Chorio, Rethymno Livadeia, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.170C>A r.(?) p.(Ala57Asp) Parent #2 g.21971188G>T - CDKN2A_000005 - - - - DNA SEQ-NG-I 1 PrCa - M Ierapetra, Crete Chania, Crete Greek no - 1 Despoina Kalfakakou
./. - c.174A>C r.(=) p.(=) Parent #2 g.21971184T>G - CDKN2A_000012 - - - - DNA SEQ-NG-I 1 CRC - F Zimbabwe - Zimbabwe no - 1 Despoina Kalfakakou
./. - c.194T>C r.(?) p.(Leu65Pro) Parent #2 g.21971164A>G - CDKN2A_000004 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.194T>C r.(?) p.(Leu65Pro) Parent #2 g.21971164A>G - CDKN2A_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.198C>T r.(=) p.(=) Parent #2 g.21971160G>A - CDKN2A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Sohos, Thessaloniki - Greek no - 1 Despoina Kalfakakou
./. - c.198C>T r.(=) p.(=) Parent #2 g.21971160G>A - CDKN2A_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Domvraina, Boeotia - Greek no - 1 Despoina Kalfakakou
./. - c.234C>T r.(=) p.(=) Parent #2 g.21971124G>A - CDKN2A_000018 - - - - DNA SEQ-NG-I 1 BrCa - F Megalopoli, Arcadia - Greek no - 1 Despoina Kalfakakou
./. - c.321C>G r.(=) p.(=) Parent #2 g.21971037G>C - CDKN2A_000002 - - - - DNA SEQ-NG-I 1 OVCA - F Ellotia, Thiva - Greek no - 1 Despoina Kalfakakou
./. - c.330G>A r.(?) p.(Trp110*) Parent #2 g.21971028C>T - CDKN2A_000011 - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kedros, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.365G>C r.(?) p.(Gly122Ala) Parent #2 g.21970993C>G - CDKN2A_000019 - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
./. - c.383G>T r.(?) p.(Arg128Leu) Parent #2 g.21970975C>A - CDKN2A_000024 - - - - DNA SEQ-NG-I 1 RCC - M Athens Samos Greek no - 1 Despoina Kalfakakou
./. - c.384G>A r.(=) p.(=) Parent #2 g.21970974C>T - CDKN2A_000021 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Piraeus Larisa Greek no - 1 Despoina Kalfakakou
./. - c.416G>T r.(?) p.(Gly139Val) Parent #2 g.21970942C>A - CDKN2A_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 1 Despoina Kalfakakou
./. - c.457G>C r.(?) p.(Asp153His) Parent #2 g.21970901C>G - CDKN2A_000026 rs45476696 - - - DNA SEQ-NG-I 1 OVCA - F Andros Limni, Euboea Greek no - 1 Despoina Kalfakakou
./. - c.*6C>G r.(=) p.(=) Parent #2 g.21968222G>C - CDKN2A_000022 - - - - DNA SEQ-NG-I 1 Polyposis, TRC - M Larisa - Greek no - 1 Despoina Kalfakakou
./. - c.*8A>T r.(=) p.(=) Parent #2 g.21968220T>A - CDKN2A_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Patra Greek no - 1 Despoina Kalfakakou
Legend