Full data view for gene BAP1

Information The variants shown are described using the NM_004656.3 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 - - F Elassona, Larisa - Greek no - 2 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Aiani, Kozani - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kefalonia Kalamata Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalavryta Aigio Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Achaia - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Mani Neochori, Nafpaktos Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Livadeia - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 CAL, NF - F Zakynthos - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - F Asia Minor Athens Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Leonidio, Arcadia Crisorachi, Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Evros - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Elassona, Larisa Livera, Kozani Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Gryllos, Elis - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Asia Minor - Greek no - 1 Despoina Kalfakakou
./. - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
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