Variant (rsID / SNP)

rs28903085

rs28903085 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,911,535. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

RAD50Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:131911535
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
Allele change: Missense_I94L

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.