All transcript variants in gene BLM

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

1 entry on 1 page. Showing entry 1.
Legend  

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.2868G>A r.(=) p.(=) g.91333923G>A - BLM_000087 rs199861261 - Germline - - - - Despoina Kalfakakou
Legend