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Variant (rsID / SNP)

rs149577978

RAD50

rs149577978 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,951,780. 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
5:131951780
Cytoband
5q31.1
HGVS
NM_005732.4(RAD50):c.3122A>G (p.His1041Arg)
Allele change
Missense_H1041R

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome

Public references

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