Full data view for gene MUTYH

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)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

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Cuadro familiar     

Panel size     

Owner     
-/- 12 c.972G>C p.(Gln324His) Homo APC r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG, z-score-CNV 3-may-2017 Héritas - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 18-nov-2015 CEMIC - - - Spanish-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 12 c.972G>C p.(Gln324His) Hetero MSH2 r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 4-jul-2017 CEMIC - - - Spanish-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 12 c.972G>C p.(Gln324His) Hetero PMS2 r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 30-aug-2017 Domeq&, Lafage - - - Russian-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 12 c.972G>C p.(Gln324His) Hetero MSH2 r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 11-nov-2016 CEMIC - - - Argentinian - - - 1 Lina Nuñez-Private Practice
-/- 12 c.972G>C p.(Gln324His) Homo MLH1, MUTYH r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 14-aug-2017 CEMIC - - - Italian-French-Bolivian - - - 1 Florencia Petracchi-CEMIC
-/- 12 c.972G>C p.(Gln324His) Homo no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 José Llugdar-Instituto Oulton
-/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 24-nov-2015 CEMIC - - - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 26-jul-2018 CEMIC - Specific pathology panel - Spanish-Arab - - - 1 Florencia Petracchi-CEMIC
-/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 2-aug-2018 CEMIC - Specific pathology panel - Spanish-Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA SEQ-NG 25-oct-2018 CEMIC - Specific pathology - Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
./- 12 c.972G>C p.(Gln324His) Not specified no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Italian - - Pancreas 1 Silvina Sisterna-Hospital Privado
./- 12 c.972G>C p.(Gln324His) Not specified no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Spanish-Lebanese - - Mama,Pancreas 1 Silvina Sisterna-Hospital Privado
./- 12 c.972G>C p.(Gln324His) Not specified no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA CNV, SEQ-NG 26-dec-2019 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAND51C, RAD51D, STK11, TP53) Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital Privado
./- 12 c.972G>C p.(Gln324His) Homo no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA CNV, SEQ-NG 21-may-2020 IACA Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital Privado
./- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital Privado
./- 12 c.972G>C p.(Gln324His) Hetero no r.(?) - Unknown g.45331833C>G - MUTYH_000004 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 - - Mama 1 Silvina Sisterna-Hospital Privado
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