Variant (rsID / SNP)

rs745797941

rs745797941 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,972,871. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RAD50Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:131972871
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter)
Allele change: Nonsense_R1152X

Associated conditions / phenotypes

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

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.