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Variant (rsID / SNP)

rs1800056

ATM

rs1800056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,138,003. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATMBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:108138003
Cytoband
11q22.3
HGVS
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
Allele change
Missense_F858L

Associated conditions / phenotypes

Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Carcinoma of colon|Toe walking|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.