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MLH1

mutL homolog 1

HCNC Approved Symbol
MLH1 (HGNC:7127)
Genomic Coordinates
3:36,993,466 - 37,050,846 (3p22.2)
Synonyms
HNPCC, FCC2, HNPCC2, MLH-1, COCA2
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

24Patients

In total, 24 patients were diagnosed with a variant in the MLH1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Colon cancer
 5 (20.8%)
Left ventricular hypertrophy
 4 (16.7%)
Neoplasm
 
2 (8.3%)
Breast carcinoma
 
2 (8.3%)
Hearing loss
 
2 (8.3%)
MLH1 - Gene browser | 3billion