Variant (rsID / SNP)

rs797045030

rs797045030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,186,591. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 11:108186591
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.6049dup (p.Ser2017fs)

Associated conditions / phenotypes

Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing 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.