Variant (rsID / SNP)

rs558302979

rs558302979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,940,624. 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: 5:131940624
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.2651G>A (p.Arg884His)
Allele change: Missense_R884H

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome

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.