Full data view for gene PMS2

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

29 entries on 1 page. Showing entries 1 - 29.
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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     

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Panel size     

Owner     
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Patras - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Trikala, Corinthia Karia, Corinthia - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Ioannina - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Both (homozygous) g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa, TRC - F Karditsa - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Serres - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thesprotia Pontus - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Cyprus & Crete Pontus & Eastern Thrace - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalabaka - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pontus Kefalonia - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina Arta - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Ioannina & Preveza Kalamata & Chania, Crete - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kymi, Euboea - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kalamata Santorini & Smyrna - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Laurium & Mani Peninsula Mani Peninsula - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Kythnos Rethymno - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Mikra Asia Serres - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Russia - - - - 2 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Atalanti, Phthiotis Lesbos - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Pelopio, Ancient Olympia, Elis - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Paros - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Sitia, Crete Mani Peninsula & Icaria - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Romania - - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lefkada,Phthiotis Paleovracha,Phthiotis - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Lamia Andros - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Both (homozygous) g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa, OVCA - F Trikala Naousa - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Arta Karpenisi - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Thebes Alexandroupolis - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Corfu Erythres, Attica - - - 1 Stevi Xera
./. - c.2570G>C r.(?) p.(Gly857Ala) Parent #2 g.6013049C>G - PMS2_000115 rs1802683 - - - - - - DNA SEQ-NG-I 1 BrCa - F Aeghion & Mikra Asia Skiathos & Mikra Asia - - - 1 Stevi Xera
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