Variant (rsID / SNP)

rs56252953

rs56252953 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,126,944. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:108126944
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.2127T>C (p.Ile709=)
Allele change: Synonymous_I709I

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.