Full data view for gene MSH6

Information The variants shown are described using the NM_000179.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

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     
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Parent #1 g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 9-feb-2017 Alexander Fleming - - - Italian - - - 1 Luisina Bruno-Instituto Fleming
-/- 1 c.186C>A r.(=) p.(=) Hetero MLH1 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 16-may-2017 CEMIC - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 20-feb-2017 CEMIC - - Healthy/Control Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Hetero MSH2 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 4-jul-2017 CEMIC - - -- Spanish-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Homo no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 14-jun-2017 CEMIC - - -- Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Hetero MSH2 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 11-nov-2016 CEMIC - - Colon cancer Argentinian - - Colon cancer 1 Lina Nuñez-Private Practice
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG, z-score-CNV 25-jul-2017 Héritas - Multigenetic panel -- Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 1 c.186C>A r.(=) p.(=) Hetero MLH1, MUTYH - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 14-aug-2017 CEMIC - - -- Italian-French-Bolivian - - - 1 Florencia Petracchi-CEMIC
-/- 1 c.186C>A r.(=) p.(=) Homo no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 Jose Llugdar-Instituto Oulton
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 19-feb-2018 CEMIC - Specific pathology panel -- Italian-Spanish-English - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Homo MLH1 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 2-may-2018 Domeq&, Lafage Lynch Panel - Colon cancer Spanish-Basque - - Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 1 c.186C>A r.(=) p.(=) Hetero MLH1 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 1-feb-2018 CEMIC - Specific pathology panel - Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 1 c.186C>A r.(=) p.(=) Hetero EPCAM - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 13-dec-2018 Domeq&, Lafage - Specific pathology panel Colon cancer Spanish-Italian - CIA (antec pnales/explica cuadro clínico?) Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 1 c.186C>A r.(=) p.(=) Hetero MUTYH - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 16-apr-2019 Dasa Genómica - Genia, Hospital Italiano de Buenos Aires - Specific pathology - Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 13-aug-2019 CEMIC - Specific pathology - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Hetero MSH2 - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 31-oct-2019 CEMIC - Specific pathology - Spanish - (antec ambos/explica cuadro) - 1 Pablo Kalfayan-Hospital Italiano
-/- 1 c.186C>A r.(=) p.(=) Not specified no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 6-dec-2019 IACA Panel (ATM, BRCA1, BRCA2, BARD1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.186C>A r.(=) p.(=) Not specified no - Unknown g.47783419C>A - MSH6_000006 - - 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 N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.186C>A r.(=) p.(=) Not specified no - Unknown g.47783419C>A - MSH6_000006 - - 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 de Comunidad
./- 1 c.186C>A r.(=) p.(=) Not specified no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 24-sep-2019 IACA - Multigenetic panel - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 26-feb-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel Breast cancer Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA SEQ-NG 10-oct-2019 Domeq&, Lafage - Multigenetic panel - Caucasian - - - 1 Erika Stegmayer-CIOC
./- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - 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 de Comunidad
./- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 1 c.186C>A r.(=) p.(=) Hetero no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 1 c.186C>A r.(=) p.(=) Homo no - Unknown g.47783419C>A - MSH6_000006 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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