All transcript variants in gene BLM

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

2 entries on 1 page. Showing entries 1 - 2.
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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.2205_2206insT r.(?) p.(Tyr736Leufs*5) g.91310151_91310152insT - BLM_000016 rs886051551 - Germline - - - - Despoina Kalfakakou
+/+ - c.2205_2206insT r.(?) p.(Tyr736Leufs*5) g.91310151_91310152insT - BLM_000016 rs886051551 - Germline - - - - Despoina Kalfakakou
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