Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs587782506

ATM

rs587782506 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,165,679. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ATMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:108165679
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
Allele change
Missense_S1601N

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome

Public references

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