Variant (rsID / SNP)

rs122445111

rs122445111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ATRXPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
Allele change: Missense_C220Y

Associated conditions / phenotypes

Intellectual disability-hypotonic facies syndrome, X-linked|Inborn genetic diseases|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.