Variant (rsID / SNP)

rs1060500689

rs1060500689 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,048,491. 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: 3:37048491
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
Allele change: Silent

Associated conditions / phenotypes

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.