Variant (rsID / SNP)

rs63750193

rs63750193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,081,767. 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: 3:37081767
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
Allele change: Missense_L209P

Associated conditions / phenotypes

Lynch syndrome 1|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms

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.