Variant (rsID / SNP)

rs202197835

rs202197835 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,915,612. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

RAD50Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:131915612
Cytoband: 5q31.1
HGVS: NM_005732.4(RAD50):c.610A>G (p.Lys204Glu)
Allele change: Missense_K204E

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.