Full data view for gene PRF1

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

63 entries on 1 page. Showing entries 1 - 63.
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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.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Eksochori, Messenia - - - - 2 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kyparissia,Messenia Elis - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Antissa, Lesvos Skalochori, Lesvos - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus & Galaxidi Athens & Lamia - - - 5 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa, GIST - F Arta & Trikala & Distrato, Ioannina Istanbul - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sidirokastro, Serres France - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - M Exochi, Argolida - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laconia & Istanbul Manolada, Elis - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - M Sitia, Crete - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Valtetsi, Arcadia Poros Trizinias - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus-Odessa, Russia & Schimatari, Boeotia Pilos,Messenia & Alexandria, Egypt - - - 5 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Edessa - - - - 2 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corum,Turkey Mikra Asia Greek - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Gjirokaster, Albania - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Euboea - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Messenia - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Stavros, Larissa Sofades, Karditsa - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kythnos Rethymno - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Syros & Thrace - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Istanbul Mikra Asia - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - Greek - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Albania - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Antalya, Turkey & Euboea - - - 4 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Piraeus Elliniko,Arcadia & Agoriani, Laconia - - - 3 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion, Crete - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Messini - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Euboea - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Keratea - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Parent #2 g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
./. - c.900C>T r.(=) p.(=) Both (homozygous) g.72358577G>A - PRF1_000042 rs885822 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lesbos Granitsa, Ioannina - - - 2 Stevi Xera
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