Variant (rsID / SNP)

rs115706334

rs115706334 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,977,906. Clinical significance in the table: Uncertain significance.

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Reference-table entries

RAD50Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:131977906
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.3789G>C (p.Gln1263His)
Allele change: Missense_Q1263H

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.