Variant (rsID / SNP)

rs267607904

rs267607904 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,092,135. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MLH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: Deletion
Chromosome / position: 3:37092135
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.2262del (p.Arg755fs)

Associated conditions / phenotypes

Lynch syndrome|Colorectal cancer, hereditary nonpolyposis, type 2

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.