Variant (rsID / SNP)

rs122445107

rs122445107 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATRXPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.236C>G (p.Ser79Ter)
Allele change: Nonsense_S79X

Associated conditions / phenotypes

Acquired hemoglobin H disease

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.