Variant (rsID / SNP)

rs143097772

rs143097772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,123,628. 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: 11:108123628
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.1887C>T (p.Ser629=)
Allele change: Synonymous_S629S

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.