Full data view for gene RB1

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

52 entries on 1 page. Showing entries 1 - 52.
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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.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Argolis - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Arcadia Karditsa Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Greece Romania Romanian no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Ellotia, Thiva - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Liksouri Liti, Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 CRC - M Stasimo, Messenia - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 ColPol, CRC - M Constantinople Athens Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa Megara Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Antalya, Asia Minor Athens Greek no - 5 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Almiros, Volos - Greek no - 3 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 Polyposis - M Chania, Crete Amfissa Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC - F Prousa, Asia Minor Siros Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Poros Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Geraneia, Elassona - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos Serres Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kefalonia - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Heraklion - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Istiaia, Evia - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gytheio, Laconia Sparta Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Evros Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Gorgomylos, Preveza, Ammopotamos, Arta Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Papadates, Preveza - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Kastellorizo Hydra Symi Northern Epirus Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 - - M Athens - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 - - F Levidi, Arcadia Prinos, Thasos Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 - - F Corinthia - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 CMM3, ENC - F Eleusis - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 GLM3 - M Nees Karye, Larisa Athens Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa, ENC, NF, TRC - F Ios Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Poros Rado, Argolis Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessalia & Larisa Aitoliko, AetoliaAcarnania Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Korinos, Pieria - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nea Erythraia Patras Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Gouves, Heraklion Heraklion Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Halkidiki Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Naxos Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Nafpaktos - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Divri, Sarandë - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 CRC, OVCA - F Greeks of Russia - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Euboea - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Burgas, Bulgaria Bulgaria Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Nafplio Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Haliacmon, Kozani Siatista, Kozani Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Trikala - Greek no - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - - - - 1 Despoina Kalfakakou
?/? - c.2212-39dup r.(=) p.(=) Parent #1 g.49039095dup - RB1_000022 - - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Metochi, Evia Agrinio Greek no - 1 Despoina Kalfakakou
Legend