Full data view for gene PMS2

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

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 11 c.1531A>G p.(Thr511Ala) Hetero MLH1 r.(?) - Unknown g.5987234T>C - PMS2_000038 - - DNA SEQ-NG 30-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology -- Spanish-Italian-French-Amerindian - CII (explica cuadro) - 1 Carlos Vaccaro-Hospital Italiano
-/- 11 c.1531A>G p.(Thr511Ala) Hetero no r.(?) - Unknown g.5987234T>C - PMS2_000038 - - DNA SEQ-NG 1-jul-2019 Genia - Specific pathology -- Spanish-French - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 11 c.1531A>G p.(Thr511Ala) Hetero no r.(?) - Unknown g.5987234T>C - PMS2_000038 - - DNA CNV, SEQ-NG 28-mar-2018 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53) Multigenetic panel Breast cancer Argentinian - - Breast cancer, Colon cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 11 c.1531A>G p.(Thr511Ala) Hetero no r.(?) - Unknown g.5987234T>C - PMS2_000038 - - DNA CNV, SEQ-NG 28-apr-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Polish-Italian-German-Russian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
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