Variant (rsID / SNP)

rs63749867

rs63749867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,445. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

MLH1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:37090445
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
Allele change: Nonsense_C339X

Associated conditions / phenotypes

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