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     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
./. - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - M Santorini - Greek no - 1 Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
./. - c.380+37A>G r.(=) p.(=) Parent #2 g.48916887A>G - RB1_000008 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - DNA SEQ-NG-I 1 ENC - F Xanthi Kavala - - - 1 Despoina Kalfakakou
Legend