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Variant (rsID / SNP)

rs35045067

MLH1

rs35045067 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,048. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MLH1Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
3:37090048
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
Allele change
Missense_Y305C

Associated conditions / phenotypes

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

Public references

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