Variant (rsID / SNP)

rs63750300

rs63750300 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,081,758. 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: 3:37081758
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
Allele change: Nonsense_L206X

Associated conditions / phenotypes

Lynch 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.