Variant (rsID / SNP)

rs121434219

rs121434219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATM. Location: chromosome 11, position 108,236,203. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

ATMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:108236203
Cytoband: 11q22.3
HGVS: NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)
Allele change: Nonsense_R3047X

Associated conditions / phenotypes

Ataxia-telangiectasia without immunodeficiency|Ataxia-telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial cancer of breast

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.