Variant (rsID / SNP)

rs587781511

rs587781511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,117,756. 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: 11:108117756
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.967A>G (p.Ile323Val)
Allele change: Missense_I323V

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.