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Variant (rsID / SNP)

rs202038499

MLH1

rs202038499 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,468. 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
3:37067468
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
Allele change
Missense_E119A

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome|Hereditary nonpolyposis colorectal neoplasms|Colorectal cancer, hereditary nonpolyposis, type 2

Public references

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