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Variant (rsID / SNP)

rs587778080

ATM

rs587778080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,216,596. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ATMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:108216596
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)
Allele change
Nonsense_R2849X

Associated conditions / phenotypes

Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Breast cancer, susceptibility to|Ataxia-telangiectasia syndrome|Toe walking

Public references

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