Variant (rsID / SNP)

rs143278116

rs143278116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MLH3. Location: chromosome 14, position 75,513,910. Clinical significance in the table: Likely benign.

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Reference-table entries

MLH3Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:75513910
Cytoband: 14q24.3
HGVS: NM_001040108.2(MLH3):c.2449A>G (p.Ser817Gly)
Allele change: Missense_S817G

Associated conditions / phenotypes

Colorectal cancer, non-polyposis|Colorectal cancer, hereditary nonpolyposis, type 7

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.