Full data view for gene TP53

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

96 entries on 1 page. Showing entries 1 - 96.
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.-11G>A r.(=) p.(=) Parent #2 g.7579923C>T - TP53_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Kavala Serres Greek no - 1 Despoina Kalfakakou
./. - c.-11G>A r.(=) p.(=) Parent #2 g.7579923C>T - TP53_000007 - - - - DNA SEQ-NG-I 1 BrCa - F Mani Kymi, Evia Greek no - 1 Despoina Kalfakakou
./. - c.18A>C r.(=) p.(=) Parent #2 g.7579895T>G - TP53_000015 - - - - DNA SEQ-NG-I 1 BrCa - F Arta - Greek no - 1 Despoina Kalfakakou
./. - c.28G>C r.(?) p.(Val10Leu) Parent #2 g.7579885C>G - TP53_000032 - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.35C>T r.(?) p.(Pro12Leu) Parent #2 g.7579878G>A - TP53_000006 - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
./. - c.35C>T r.(?) p.(Pro12Leu) Parent #2 g.7579878G>A - TP53_000006 - - - - DNA SEQ-NG-I 1 BrCa - F Kyriaki, Boeotia Chostia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.74+14T>C r.(=) p.(=) Parent #2 g.7579825A>G - TP53_000004 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.74+14T>C r.(=) p.(=) Parent #2 g.7579825A>G - TP53_000004 - - - - DNA SEQ-NG-I 1 Polyposis - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.74+14T>C r.(=) p.(=) Parent #2 g.7579825A>G - TP53_000004 - - - - DNA SEQ-NG-I 1 BrCa - F Serres Tripoli Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno Asia Minor Greek no - 3 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 CRC - M Arcadia Ilia Greek no - 2 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 BrCa, FM-SR - F Sitia - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Boeotia   - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 OVCA - F Trikala Agios Vissarion,Trikala Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 - - F Analipsi, Trichonida, Aetolia-Acarnania - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 RCC - F Kanalia, Magnesia Phylace, Magnesia Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 PrCa - M Acharnes - Greek no - 1 Despoina Kalfakakou
./. - c.97-52G>A r.(=) p.(=) Parent #2 g.7579642C>T - TP53_000011 - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
./. - c.97-36C>T r.(=) p.(=) Parent #2 g.7579626G>A - TP53_000016 - - - - DNA SEQ-NG-I 1 BrCa - F Athens Evia Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Elaionas, Boeotia Avlonas, Attica Region Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evrytania Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 RCC - F Nea Madytos, Thessaloniki Vria, Pieria Greek no - 1 Despoina Kalfakakou
./. - c.97-9C>T r.(=) p.(=) Parent #2 g.7579599G>A - TP53_000003 - - - - DNA SEQ-NG-I 1 PNCA2 - M Meramvellou, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.270C>T r.(=) p.(=) Parent #2 g.7579417G>A - TP53_000035 - - - - DNA SEQ-NG-I 1 BrCa - F Myticas, Aetolia-Acarnania Meganisi, Lefkas Greek no - 1 Despoina Kalfakakou
./. - c.459C>T r.(=) p.(=) Parent #2 g.7578471G>A - TP53_000005 rs72661116 - - - DNA SEQ-NG-I 1 BrCa, PrCa, SIC, SkCa - M Evia - Greek no - 1 Despoina Kalfakakou
./. - c.472C>T r.(?) p.(Arg158Cys) Parent #2 g.7578458G>A - TP53_000023 - - - - DNA SEQ-NG-I 1 RCC - M Athens Peloponnese Greek no - 1 Despoina Kalfakakou
./. - c.509C>T r.(?) p.(Thr170Met) Parent #2 g.7578421G>A - TP53_000020 - - - - DNA SEQ-NG-I 1 BrCa - F Andros USA Greek no - 4 Despoina Kalfakakou
./. - c.510G>A r.(=) p.(=) Parent #2 g.7578420C>T - TP53_000026 - - - - DNA SEQ-NG-I 1 CMM3 - F Serres Lamia Greek no - 1 Despoina Kalfakakou
./. - c.559+24C>T r.(=) p.(=) Parent #2 g.7578347G>A - TP53_000009 rs56181208 - - - DNA SEQ-NG-I 1 BrCa - F Nea Koutali, Lemnos Kallithea, Lemnos Greek no - 3 Despoina Kalfakakou
./. - c.560G>T r.(?) p.(Gly187Val) Parent #2 g.7578289C>A - TP53_000010 - - - - DNA SEQ-NG-I 1 BrCa - F Serres - Greek no - 4 Despoina Kalfakakou
./. - c.651G>T r.(=) p.(=) Parent #2 g.7578198C>A - TP53_000025 - - - - DNA SEQ-NG-I 1 Pheo - F Asia Minor Pontus Greek no - 1 Despoina Kalfakakou
./. - c.658T>C r.(?) p.(Tyr220His) Parent #2 g.7578191A>G - TP53_000022 - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Izmir Greek no - 1 Despoina Kalfakakou
./. - c.672+18G>C r.(=) p.(=) Parent #2 g.7578159C>G - TP53_000033 - - - - DNA SEQ-NG-I 1 OVCA - F Philippines - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Kozani Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Drama Nea Flogita, Chalkidiki Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 Polyposis - M Heraklion, Crete - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Karpathos - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Makrychori, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa, UtPol - F Karres, Apokoronos, Chania - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Piraeus - Greek no - 4 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Gergeri, Heraklion - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F İzmir Alexandria, Egypt Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Dafni, Kalavryta - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evros Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Karia, Lamia Ormenio, Orestias Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Karia, Lamia Ormenio, Orestias Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Morocco - Moroccan no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Amalias, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 TRC - F Rethimno, Crete Karditsa Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Athens Olympia Greek no - 4 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Amarynthos, Euboea - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor Drama Paranesti, Drama Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Neochori, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Livadeia Constantinople Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 OVCA - F Elassona, Larisa Livera, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.672+31A>G r.(=) p.(=) Parent #2 g.7578146T>C - TP53_000002 rs34949160 - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
./. - c.672+35G>T r.(=) p.(=) Parent #2 g.7578142C>A - TP53_000029 - - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.672+35G>T r.(=) p.(=) Parent #2 g.7578142C>A - TP53_000029 - - - - DNA SEQ-NG-I 1 BrCa - F Gelanthi, Karditsa - Greek no - 1 Despoina Kalfakakou
./. - c.672+48G>A r.(=) p.(=) Parent #2 g.7578129C>T - TP53_000028 rs17884607 - - - DNA SEQ-NG-I 1 OVCA - F Athens - Greek no - 1 Despoina Kalfakakou
./. - c.672+48G>T r.(=) p.(=) Parent #2 g.7578129C>A - TP53_000018 rs17884607 - - - DNA SEQ-NG-I 1 OVCA - F Stamata, Attica - Greek no - 1 Despoina Kalfakakou
./. - c.722C>A r.(?) p.(Ser241Tyr) Parent #2 g.7577559G>T - TP53_000021 rs28934573 - - - DNA SEQ-NG-I 1 OVCA - F Agios Vlasios, Boeotia Davleia, Boeotia Greek no - 1 Despoina Kalfakakou
./. - c.782+12C>T r.(=) p.(=) Parent #2 g.7577487G>A - TP53_000019 rs17881780 - - - DNA SEQ-NG-I 1 BrCa - F Galaxidi, Phocis Trizonia, Phocis Greek no - 1 Despoina Kalfakakou
./. - c.782+17C>T r.(=) p.(=) Parent #2 g.7577482G>A - TP53_000030 rs17880172 - - - DNA SEQ-NG-I 1 OVCA - F Ethiopia - Greek no - 1 Despoina Kalfakakou
./. - c.794T>G r.(?) p.(Leu265Arg) Parent #2 g.7577144A>C - TP53_000031 - - - - DNA SEQ-NG-I 1 OVCA - F Ramia, Arta - Greek no - 1 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Askri, Boeotia Amarynthos, Evia Greek no - 3 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 CRC - F Kozani Ilia Greek no - 2 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 ColPol - M Kalousi, Achaea - Greek no - 1 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 BrCa - F Syros Evia Greek no - 4 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 PrCa - M Agios Georgios, Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Athens Andros Greek no - 1 Despoina Kalfakakou
./. - c.847C>T r.(?) p.(Arg283Cys) Parent #2 g.7577091G>A - TP53_000001 - - - - DNA SEQ-NG-I 1 OVCA - F Ios - Greek no - 1 Despoina Kalfakakou
./. - c.871A>C r.(?) p.(Lys291Gln) Parent #2 g.7577067T>G - TP53_000027 - - - - DNA SEQ-NG-I 1 OVCA - F Piges, Arta Elati, Arta Greek no - 1 Despoina Kalfakakou
./. - c.919+30_919+31insGG r.(=) p.(=) Parent #2 g.7576988_7576989insCC - TP53_000014 - - - - DNA SEQ-NG-I 1 ColPol - M Kalamata Sparti Greek no - 1 Despoina Kalfakakou
./. - c.919+30_919+31insGG r.(=) p.(=) Parent #2 g.7576988_7576989insCC - TP53_000014 - - - - DNA SEQ-NG-I 1 BrCa, NHL - F Kalamata Nafplio Greek no - 1 Despoina Kalfakakou
./. - c.919+30_919+31insGG r.(=) p.(=) Parent #2 g.7576988_7576989insCC - TP53_000014 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.921A>G r.(=) p.(=) Parent #2 g.7576925T>C - TP53_000034 - - - - DNA SEQ-NG-I 1 OVCA - F Methana Rodia, Grevena Greek no - 1 Despoina Kalfakakou
./. - c.994-41C>T r.(=) p.(=) Parent #2 g.7574074G>A - TP53_000017 - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Gytheio, Laconia Messenia Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 OVCA - F Lesbos - Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Gytheion, Laconia Tripoli, Arcadia Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 BrCa - F Kiato, Corinth Throfari, Corinth Greek no - 1 Despoina Kalfakakou
./. - c.1014C>T r.(=) p.(=) Parent #2 g.7574013G>A - TP53_000013 - - - - DNA SEQ-NG-I 1 F, PerCa - F Chalkida Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.1079G>T r.(?) p.(Gly360Val) Parent #2 g.7573948C>A - TP53_000008 rs35993958 - - - DNA SEQ-NG-I 1 Healthy/Control - F Komotini Stavros, Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.1079G>T r.(?) p.(Gly360Val) Parent #2 g.7573948C>A - TP53_000008 rs35993958 - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
./. - c.1100+35C>G r.(=) p.(=) Parent #2 g.7573892G>C - TP53_000012 - - - - DNA SEQ-NG-I 1 BrCa - F Symi Santorini Greek no - 1 Despoina Kalfakakou
./. - c.*21C>T r.(=) p.(=) Parent #2 g.7572906G>A - TP53_000024 - - - - DNA SEQ-NG-I 1 BladCa, PrCa - M Kastoria - Greek no - 1 Despoina Kalfakakou
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