Variant (rsID / SNP)

rs41295284

rs41295284 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,089,098. Clinical significance in the table: Likely benign.

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Reference-table entries

MLH1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:37089098
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
Allele change: Missense_L266H

Associated conditions / phenotypes

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