Full data view for gene MLH1


MLH1 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000249.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/+? 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown InSiGHT likely pathogenic g.37090095A>C g.37048604A>C - - MLH1_001644 Insight class: 4 InSiGHT - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Parent #1 - VUS g.37090095A>C g.37048604A>C Partial Deletion of Exon 17 - MLH1_001644 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Hardt 2011 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Pagenstecher 2006 - - Germline - - - - - DNA PCR, SEQ - - CRC - - - ? - Germany - - - - - 1 Peter Propping, Prof. Dr. med.
+/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Parent #1 - pathogenic g.37090095A>C g.37048604A>C 1984A->C - MLH1_001644 - PubMed: Kruger 2002 - - Germline - - - - - DNA SEQ - - ? - - - ? - Germany - - - - - 1 INSiGHT group
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Parent #1 - VUS g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Hardt 2011 - - Germline - - - - - DNA SEQ - - HNPCC (Lynch) - - - ? - Germany - - - - - 1 Beate Dr. Betz
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Lucci-Cordisco 2006 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C T662L - MLH1_001644 {GR:516} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662L - MLH1_001644 {GR:516} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - benign g.37090095A>C g.37048604A>C T662L - MLH1_001644 {GR:516} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
+/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - pathogenic g.37090095A>C g.37048604A>C T662L - MLH1_001644 {GR:516} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C T662L. - MLH1_001644 - PubMed: Muller-Koch 2001,PubMed: Hardt 2011 - - Germline - - - - - DNA ? - - ? - - - ? - - - - - - - 1 Michael Woods
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - VUS g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Chao 2008 - - Germline - - - - - DNA SEQ - - ?, HNPCC (Lynch) - - geogr. origin: Germany;InSiGHT LOVDv2 ID:1006989; ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Lucci-Cordisco 2006 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Takahashi 2007 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - likely pathogenic g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - benign g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Chao 2008 - - Unknown - - - - - DNA SEQ - - - - - - ? - - - - - - - 1 Rolf Sijmons
?/. 17 c.1984A>C r.(?) p.(Thr662Pro) Unknown - VUS g.37090095A>C g.37048604A>C Exon 17 1984A>C p.Thr662Pro Likely Path RNA required - MLH1_001644 - Desiree du Sart - - Germline - - - - - DNA SEQ - - CRC - - - - - - - - - - - 1 INSiGHT group
+/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - NA g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - NA g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Tournier 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - NA g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - NA g.37090095A>C g.37048604A>C T662P - MLH1_001644 {GR:223} PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1984A>C r.[1897_1989del, 1984a>c] p.[Glu633_Glu663del, Thr662Pro] Unknown - NA g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Takahashi 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1984A>C r.(?) p.Thr662Pro Unknown - NA g.37090095A>C g.37048604A>C - - MLH1_001644 - PubMed: Kosinski et al, 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.