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Variant (rsID / SNP)

rs147366706

RAD50

rs147366706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,926,997. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAD50Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:131926997
Cytoband
5q31.1
HGVS
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)
Allele change
Missense_A512S

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.