All transcript variants in gene PMS1

Information The variants shown are described using the 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.1508T>A r.(?) p.(Ile503Lys) g.190719506T>A - PMS1_000049 - - Germline - - - - Despoina Kalfakakou
?/? - c.1508T>A r.(?) p.(Ile503Lys) g.190719506T>A - PMS1_000049 - - Germline - - - - Despoina Kalfakakou
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