Variant (rsID / SNP)

rs122445101

rs122445101 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.6392G>A (p.Arg2131Gln)
Allele change: Missense_R2131Q

Associated conditions / phenotypes

Intellectual disability-hypotonic facies syndrome, X-linked|Intellectual disability-hypotonic facies syndrome, X-linked, 1|Alpha thalassemia-X-linked intellectual disability 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.