Variant (rsID / SNP)

rs587778972

rs587778972 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH1. Location: chromosome 3, position 37,090,453. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MLH1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:37090453
Cytoband: 3p22.2
HGVS: NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
Allele change: Missense_F342S

Associated conditions / phenotypes

Lynch syndrome|Hereditary cancer-predisposing syndrome|Hereditary nonpolyposis colorectal neoplasms|Carcinoma of colon

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.