All transcript variants in gene CHEK2

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

1 entry on 1 page. Showing entry 1.
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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     
+/+ 2_3 c.320-4172_593-3895del r.(?) p.(Glu107_Lys197del) g.29119368_29125525del Apostolou et al (2018) CHEK2_000099 - - Germline - CHEK2 exons 2-3 deletion - - Despoina Kalfakakou
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