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Variant (rsID / SNP)

rs550890395

MLH1

rs550890395 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,475. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

MLH1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:37090475
Cytoband
3p22.2
HGVS
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)
Allele change
Synonymous_Y349Y

Associated conditions / phenotypes

Colorectal cancer, hereditary nonpolyposis, type 2|Hereditary cancer-predisposing syndrome|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.