All transcript variants in gene BLM

Information The variants shown are described using the NM_000057.2 transcript reference sequence.

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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.324G>C r.(?) p.(Leu108Phe) g.91292822G>C - BLM_000109 rs1198433222 - Germline - - - - Despoina Kalfakakou
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