Full data view for gene RB1

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     

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Consanguinity     

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Panel size     

Owner     
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Constantinople Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trichonida, Aetolia-Acarnania Kremmydia, Messinia Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Antalya, Asia Minor Athens Greek no - 5 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Agiovlastika, Achaia - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Santorini - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karitsa, Pieria Leptokarya, Pieria Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Eretria - Greek no - 3 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Plagia, Vonitsa, Aetolia-Acarnania - Greek no - 5 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios Piraeus Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Patras Kalavryta Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Acharnes - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 - - F Planitero, Kalavryta - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 TRC - F Erythres, Attika Pontus Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BonMal, CAL - M Athens Mani Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessalia & Larisa Aitoliko, AetoliaAcarnania Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Isthmia, Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pitsineika, Nafpaktos - Greek no - 1 Despoina Kalfakakou
?/? - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - Germline - - - - DNA SEQ-NG-I 1 ENC - F Xanthi Kavala - - - 1 Despoina Kalfakakou
Legend