All variants in the MLH1 gene


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 We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.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.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.(?_-198)_1731+?del r.(?) p.? - pathogenic g.37034841_37083822del - 1-?_1731+?del Deletion exons 1–15 - MLH1_002064 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Lagerstedt Robinson 2007, PubMed: Lagerstedt-Robinson 2016 - - Germline - - - 0 - Kristina Lagerstedt Robinson
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