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     

Remarks     

Panel size     

Owner     
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 OVCA - F - - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Ukraine - Ukrainian no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Messenia Arcadia Greek no - 3 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Phthiotis - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Thessaloniki - Greek no - 2 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 CRC - F Kranea, Elassona - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Agrinio - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Agia, Rethymno Perama, Rethymno Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Ioannina Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 SRCM - M Arta - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 PNCA2 - F Piraeus Limnos Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Patra - Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Levaia, Florina Asia Minor Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Constantinople Volos Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 OVCA - F Komnina, Phthiotis Chania Greek no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Fier, Albania - Albanian no - 1 Despoina Kalfakakou
./. - c.123-48T>G r.(=) p.(=) Parent #2 g.52442670A>C - BAP1_000006 - - - - - - - DNA SEQ-NG-I 1 Healthy/Control - F Sitomena, Aetolia-Acarnania Maleyro, Aetolia-Acarnania - - - 1 Despoina Kalfakakou
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