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Variant (rsID / SNP)

rs63750610

MLH1

rs63750610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,054. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MLH1Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:37090054
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
Allele change
Missense_P307L

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Turcot syndrome|Muir-Torré syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms

Public references

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