All transcript variants in gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
-/- - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - Germline - - - - Despoina Kalfakakou
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - - - - Stevi Xera
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