Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs769364808

MLH1

rs769364808 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,067,193. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

MLH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:37067193
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
Allele change
Synonymous_S27S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary nonpolyposis colorectal neoplasms

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.