Full data view for gene MUTYH

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

27 entries on 1 page. Showing entries 1 - 27.
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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     
-/- 14i c.1435-40C>G p.(=) Homo MLH1 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 16-may-2017 CEMIC - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 18-nov-2015 CEMIC - - -- Spanish-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 9-feb-2017 Genia - - - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 27-mar-2017 Genia - - - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 4-jul-2016, 20-feb-2017 CEMIC - - Healthy/Control Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 15-mar-2017 CEMIC - - - Spanish - - - 1 Alejandra Mampel-COIR
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 22-mar-2017 CEMIC - - - Spanish - - - 1 Pablo Kalfayan-CEMIC
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 30-jun-2017 Genia - - - Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 9-may-2017 CEMIC - - - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo MSH2 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 4-jul-2017 CEMIC - - -- Spanish-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 14-jun-2017 CEMIC - - -- Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo APC r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 6-sep-2017 Genia - - - Spanish - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo PMS2 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 30-aug-2017 Domeq&, Lafage - - - Russian-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 11-jul-2017 CEMIC - - - Spanish-Venezuelan - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 11-dic-2015 CEMIC - - -- Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo MSH2 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 11-nov-2016 CEMIC - - Colon cancer Argentinian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 24-feb-2017 CEMIC - - - Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Hetero MLH1 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 27-nov-2017 Genia - - -- Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo MLH1, MUTYH r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 14-aug-2017 CEMIC - - -- Italian-French-Bolivian - - - 1 Florencia Petracchi-CEMIC
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 Jose Llugdar-Instituto Oulton
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 24-nov-2015 CEMIC - - - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo MLH1 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 2-may-2018 Domeq&, Lafage Lynch Panel - Colon cancer Spanish-Basque - - Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 14i c.1435-40C>G p.(=) Homo MLH1 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 1-feb-2018 CEMIC - Specific pathology panel - Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 26-apr-2018 CEMIC - Specific pathology panel - Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 26-jul-2018 CEMIC - Specific pathology panel - Spanish-Arab - - - 1 Florencia Petracchi-CEMIC
-/- 14i c.1435-40C>G p.(=) Homo no r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 2-aug-2018 CEMIC - Specific pathology panel - Spanish-Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 14i c.1435-40C>G p.(=) Hetero PMS2 r.(=) - Unknown g.45330597G>C - MUTYH_000005 - - DNA SEQ-NG 16-aug-2018 Genia - Specific pathology - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
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