Full data view for gene BUB1B

Information The variants shown are described using the NM_001211.5 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Xanthi Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus - Cypriot no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Portaria, Chalkidiki - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA, SkCa - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Thessaloniki Kavala Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aigaleo - Greek no - 3 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Ioannina Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Heraklion, Crete Rethimno, Crete Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 ENC, OVCA - F Florina Aridaia Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 ColPol - M Mani Kalamata Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania Rethymno Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 Healthy/Control - F Kalamata Athens Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Pontus Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Drama Thessaloniki Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Naxos Karditsa Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus Nea Figaleia, Elis Cypriot no - 5 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Larisa - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Aigio Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Achaia - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Crete Kefalonia Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Strousi, Elis Athens Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Reihea, Laconia - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Milea, Western Mani - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Korakovouni, Arcadia - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chalkidiki Kavala Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Paros Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kiato, Corinth Throfari, Corinth Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 - - F Platanos, Crete - Greek no - 2 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Edessa - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrainCa, CAL - F Athens - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 SkCa - F Karditsa Kilkis Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa, PNCA2, RCC - F Samos - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Thessaloniki - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 HNSCC, PrCa - M Agrafa Thrace Greek no - 2 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 CAL, HypPT, NDL, Pheo - M Nisyros Constantinople Greek no - 2 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 PNCA2 - M Athens Florina Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Messolonghi - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kilkis Serres Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Karditsa - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F East Mani - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Athens Samos Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Armenia Heraklion Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Cyprus Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kalamata - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Piraeus - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Tinos & Kythira Chios & Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Leontio, Patra Athamanio, Arta Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Nemea - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus (Kazakhstan) - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Xylokastro Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Portaria, Halkidiki - Greek no - 2 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Eretria, Larisa - Greek no - 4 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pesta, Ioannina - Greek no - 3 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thrace Asia Minor Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M - - Greek no - 1 Despoina Kalfakakou
-/- - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pontus Thessaloniki Greek no - 1 Despoina Kalfakakou
./. - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - DNA SEQ-NG-I 1 BrCa - F Zakynthos Gytheio & Mani Peninsula - - - 3 Stevi Xera
./. - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - DNA SEQ-NG-I 1 BrCa - F Germany Pyrgos , Elis - - - 2 Stevi Xera
./. - c.348T>C r.(=) p.(=) Parent #2 g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
Legend