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     

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Panel size     

Owner     
-?/-? - c.501G>A r.(=) p.(=) Parent #2 g.52441269C>T - BAP1_000001 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - 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 rs148631953 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Eora, Xanthi, Pomaks - Greek no - 1 Despoina Kalfakakou
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