Variant (rsID / SNP)

rs762083530

rs762083530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,165,729. 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: 11:108165729
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
Allele change: Nonsense_R1618X

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Familial cancer of breast|Abnormal central motor function

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.