Full data view for gene BUB1B

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

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

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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.1361A>G r.(?) p.(Lys454Arg) Parent #2 g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Kasos - Greek no - 2 Despoina Kalfakakou
?/? - c.1361A>G r.(?) p.(Lys454Arg) Parent #2 g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1361A>G r.(?) p.(Lys454Arg) Parent #2 g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1361A>G r.(?) p.(Lys454Arg) Parent #2 g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Macedonia/Pontus Macedonia/Asia Minor Greek no - 1 Despoina Kalfakakou
?/? - c.1361A>G r.(?) p.(Lys454Arg) Parent #2 g.40491888A>G - BUB1B_000004 rs373256667 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Feres, Evros - Greek no - 1 Despoina Kalfakakou
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