Full data view for 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     

Allele     

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     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Karditsa Ioannina Greek no - 1 Despoina Kalfakakou
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Myrina, Lemnos - Greek no - 1 Despoina Kalfakakou
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aghios Vasileios, Aetolia-Acarnania Oichalia, Trikala Greek no - 3 Despoina Kalfakakou
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Zoodochos, Ioannina - Greek no - 1 Despoina Kalfakakou
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Aidona, Kalampaka Farkadona, Trikala Greek no - 1 Despoina Kalfakakou
?/? - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Moschofito,Trikala - Greek no - 1 Despoina Kalfakakou
./. - c.2149G>A r.(?) p.(Val717Met) Parent #2 g.6022480C>T - PMS2_000014 - - - - - - - DNA SEQ-NG-I 1 BrCa - F Athens & Kavala Rafina & Komotini - - - 1 Stevi Xera
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