Variant (rsID / SNP)

rs63750059

rs63750059 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,083,767. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MLH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:37083767
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg)
Allele change: Missense_L218R

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary nonpolyposis colon cancer

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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