Variant (rsID / SNP)

rs747727055

rs747727055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,115,727. 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: 11:108115727
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
Allele change: Missense_P292L

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Ataxia-telangiectasia syndrome|Breast carcinoma

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.