Full data view for gene BAP1

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

17 entries on 1 page. Showing entries 1 - 17.
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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.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Crete Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Albania - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mytilene Athens Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - M Narte Vlore, Albania - Albanian no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa, CRC, TRC - F Elis Constantinople Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 CRC - M Athens - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 CRC - F Makrakomi, Phthiotis Achladini , Ilia Greek no - 2 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Karditsa - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Frousouna, Argolis Artemisio, Arcadia Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Izmir Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 - - M - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Thessaloniki Xanthi Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Malantreni, Argolis - Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Ageliana, Rethymn Livadia, Rethymn Greek no - 1 Despoina Kalfakakou
-?/-? - c.1891-30G>C r.(=) p.(=) Parent #2 g.52436917C>G - BAP1_000013 rs146661777 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Lias, Thesprotia Kritsa, Lasithi Greek no - 1 Despoina Kalfakakou
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