Variant (rsID / SNP)

rs188074706

rs188074706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MSH3. Location: chromosome 5, position 80,168,970. Clinical significance in the table: Uncertain significance.

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Reference-table entries

MSH3Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:80168970
Cytoband: 5q14.1
HGVS: NM_002439.5(MSH3):c.3166C>T (p.Leu1056Phe)
Allele change: Missense_L1056F

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome

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.