Variant (rsID / SNP)

rs1060501687

rs1060501687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,143,509. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:108143509
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)
Allele change: Nonsense_E1072X

Associated conditions / phenotypes

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