Variant (rsID / SNP)

rs199895166

rs199895166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,944,882. 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: 5:131944882
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu)
Allele change: Missense_G968E

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.