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Variant (rsID / SNP)

rs141989813

RAD50

rs141989813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,939,072. 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
5:131939072
Cytoband
5q31.1
HGVS
NM_005732.4(RAD50):c.2288G>A (p.Arg763His)
Allele change
Missense_R763H

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.