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Variant (rsID / SNP)

rs1800058

ATM

rs1800058 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,160,350. 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
single nucleotide variant
Chromosome / position
11:108160350
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
Allele change
Missense_L1420F

Associated conditions / phenotypes

Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.