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Variant (rsID / SNP)

rs267607799

MLH1

rs267607799 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,058,997. Clinical significance in the table: Pathogenic.

Reference-table entries

MLH1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
Deletion
Chromosome / position
3:37058997
Cytoband
3p22.2
HGVS
NM_001354621.2(MLH1):c.-139-2804_-139-2801del

Associated conditions / phenotypes

Lynch syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.