All transcript variants in gene PMS2

Information The variants shown are described using the NM_000535.5 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.988+11T>C r.(=) p.(=) g.6031593A>G - PMS2_000102 rs139969671 - Germline - - - - Despoina Kalfakakou
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