All transcript variants in gene BAP1

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

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/? - c.944A>C r.(?) p.(Glu315Ala) g.52439298T>G - BAP1_000041 rs149974450 - Germline - - - - Despoina Kalfakakou
?/? - c.944A>C r.(?) p.(Glu315Ala) g.52439298T>G - BAP1_000041 rs149974450 - Germline - - - - Despoina Kalfakakou
./. - c.944A>C r.(?) p.(Glu315Ala) g.52439298T>G - BAP1_000041 - - - - - - - Stevi Xera
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