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Variant (rsID / SNP)

rs63750114

MLH1

rs63750114 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,506. Clinical significance in the table: Likely benign.

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Reference-table entries

MLH1Likely benign
Clinical significance (as recorded)
Likely benign
Variant type
single nucleotide variant
Chromosome / position
3:37090506
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
Allele change
Nonsense_Q360X

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Lynch syndrome 1|Hereditary nonpolyposis colorectal neoplasms|Breast and/or ovarian cancer

Public references

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