Variant (rsID / SNP)

rs267607864

rs267607864 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,089,101. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MLH1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:37089101
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
Allele change: Missense_A267D

Associated conditions / phenotypes

Lynch syndrome 1

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.