Variant (rsID / SNP)

rs201132221

rs201132221 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,930,691. 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: 5:131930691
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.1924T>G (p.Leu642Val)
Allele change: Missense_L642V

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer 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.