Variant (rsID / SNP)

rs864622669

rs864622669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,235,830. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 11:108235830
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)

Associated conditions / phenotypes

Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing 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.