Full data view for gene TP53

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

70 entries on 1 page. Showing entries 1 - 70.
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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     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eksochori, Messenia - - - - 2 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus & Galaxidi Athens & Lamia - - - 5 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - M Exochi, Argolida - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia & Istanbul Manolada, Elis - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - M Sitia, Crete - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Rethymno,Crete - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Euboea - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laurium & Mani Peninsula Mani Peninsula - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kythnos Rethymno - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Syros & Thrace - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Fostaina, Achaea Athani, Lefkada - - - 4 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Andros - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Messini - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Skyros Naxos & Klepa,Nafpaktia - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Parent #2 g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
./. - c.215C>G r.(?) p.(Pro72Arg) Both (homozygous) g.7579472G>C - TP53_000048 rs1042522 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lesbos Granitsa, Ioannina - - - 2 Stevi Xera
Legend