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Variant (rsID / SNP)

rs63749909

MLH1

rs63749909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,070,382. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MLH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:37070382
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
Allele change
Missense_V165A

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Hereditary nonpolyposis colon cancer

Public references

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