All transcript variants in gene PMS1

Information The variants shown are described using the 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.224C>T r.(?) p.(Thr75Ile) g.190660586C>T - PMS1_000004 rs61756360 - Germline - - - - Despoina Kalfakakou
Legend