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Variant (rsID / SNP)

rs63751632

MLH1

rs63751632 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,089,174. Clinical significance in the table: Pathogenic.

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Reference-table entries

MLH1Pathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
3:37089174
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
Allele change
Synonymous_E291E

Associated conditions / phenotypes

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