Variant (rsID / SNP)

rs63750549

rs63750549 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,023. The table records no clinical significance for this variant.

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Reference-table entries

MLH1Not classified

Variant type: single nucleotide variant
Chromosome / position: 3:37090023
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1912G>A (p.Gly638Arg)
Allele change: Nonsense_G297X

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.