Full data view for gene RB1

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

33 entries on 1 page. Showing entries 1 - 33.
Legend  

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.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Constantinople Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trichonida, Aetolia-Acarnania Kremmydia, Messinia Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Antalya, Asia Minor Athens Greek no - 5 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pigi, Cyprus Neta, Cyprus Cypriot no - 4 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC, GC - M Santorini - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karitsa, Pieria Leptokarya, Pieria Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Albania - Albanian no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Eretria - Greek no - 3 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Plagia, Vonitsa, Aetolia-Acarnania - Greek no - 5 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chios Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Patras Kalavryta Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CMM2 - F Acharnes - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 - - F Planitero, Kalavryta - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 TRC - F Erythres, Attika Pontus Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 CMM3, CRC - M Kalamata - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Orestias, Evros - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Psari, Messenia Mavronoros, Grevena Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Cephalonia Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
-/- - c.2521-11G>A r.(=) p.(=) Parent #2 g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Isthmia, Corinth Asia Minor Greek no - 1 Despoina Kalfakakou
Legend