Full data view for gene PMS1

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

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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Allele     

DNA change (genomic) (hg19)     

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dbSNP ID     

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Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

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Geographic origin     

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?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Poros - Greek no - 3 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Santorini Evia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Spetses Laconia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Mani Aliartos, Boeotia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Athens Messolonghi Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Kithnos &Andros Andros Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Chania - Greek no - 3 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Asia Minor - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 - - F - - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 Pheo - F Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 RCC - M Kalamata - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 CRC, PNCA2 - M Psachna, Euboea - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BKT, CS, PPB - F Lamia Thessaloniki Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 PrCa - M Euboea Attika Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 RB1, RMSRCM - F Volos Livadia Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Pyrgos, Elis - Greek no - 1 Despoina Kalfakakou
?/? - c.1609G>A r.(?) p.(Glu537Lys) Parent #2 g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Corinth Xylokastro Greek no - 1 Despoina Kalfakakou
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