Variant (rsID / SNP)

rs1064794331

rs1064794331 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,048. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MLH1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Duplication
Chromosome / position: 3:37090048
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)

Associated conditions / phenotypes

Hereditary nonpolyposis colorectal neoplasms

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.