Variant (rsID / SNP)

rs63750663

rs63750663 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,416. 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: 3:37090416
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)
Allele change: Nonsense_E330X

Associated conditions / phenotypes

Lynch syndrome|Lynch-like syndrome

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.