Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs199579239

RAD50

rs199579239 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAD50. Location: chromosome 5, position 131,977,907. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

RAD50Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:131977907
Cytoband
5q31.1
HGVS
NM_005732.4(RAD50):c.3790C>T (p.Leu1264Phe)
Allele change
Missense_L1264F

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Nijmegen breakage syndrome-like disorder|Hereditary breast ovarian cancer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.