Full data view for gene MLH1

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

16 entries on 1 page. Showing entries 1 - 16.
Legend   How to query  

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     
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 16-may-2017 CEMIC - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 20-feb-2017 CEMIC - - Healthy/Control Spanish-Italian - - - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero MSH2 - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 4-jul-2017 CEMIC - - -- Spanish-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Homo no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 14-jun-2017 CEMIC - - -- Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero PMS2 - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 30-aug-2017 Domeq&, Lafage - - - Russian-Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 11-jul-2017 CEMIC - - - Spanish-Venezuelan - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 24-feb-2017 CEMIC - - - Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Homo MLH1 - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 27-nov-2017 Genia - - -- Ashkenazi - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Homo no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 5-mar-2018 Clinica Universitaria Reina Fabiola - - - Spanish - - - 1 Jose Llugdar-Instituto Oulton
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 24-nov-2015 CEMIC - - - Italian - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 19-feb-2018 CEMIC - Specific pathology panel -- Italian-Spanish-English - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Homo MLH1 - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 1-feb-2018 CEMIC - Specific pathology panel - Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 26-apr-2018 CEMIC - Specific pathology panel - Spanish - - - 1 Carlos Vaccaro-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 2-aug-2018 CEMIC - Specific pathology panel - Spanish-Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero PMS2 - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 16-aug-2018 Genia - Specific pathology - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 5'UTR c.-93G>A r.(=) p.(=) Hetero no - Unknown g.36993455G>A - MLH1_000013 - - DNA SEQ-NG 11-jan-2017 High Medic Group - Specific pathology - Not available - - - 1 Marina Antelo-Hospital Udaondo
Legend   How to query