Full data view for gene RB1

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

22 entries on 1 page. Showing entries 1 - 22.
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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.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Trichonida, Aetolia-Acarnania Kremmydia, Messinia Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Albania - Albanian no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Ilia - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Antalya, Asia Minor Athens Greek no - 5 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa, Polyposis - F Agios Petros, Kynouria Cairo, Egypt Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Mitilini - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Samos Chios Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karitsa, Pieria Leptokarya, Pieria Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 ColPol, NF, RCC, Schw - F Agioi Pantes, Phocis Koniakos, Phocis Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Turkey Siatista, Kozani Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessalia & Larisa Aitoliko, AetoliaAcarnania Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Orestias, Evros - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moldova - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Piraeus Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pitsineika, Nafpaktos - Greek no - 1 Despoina Kalfakakou
?/? - c.2490-45A>G r.(=) p.(=) Parent #2 g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Xanthi Kavala - - - 1 Despoina Kalfakakou
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