Variant (rsID / SNP)

rs587780641

rs587780641 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,213,939. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATMConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 11:108213939
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.8269-10_8269-9del

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|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.