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Variant (rsID / SNP)

rs122445099

ATRX

rs122445099 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.7156C>T (p.Arg2386Ter)
Allele change
Nonsense_R2386X

Associated conditions / phenotypes

Alpha thalassemia-X-linked intellectual disability syndrome|Ambiguous genitalia|Cryptorchidism|Microcephaly|Intellectual disability, severe|Bone osteosarcoma|Intellectual disability-hypotonic facies syndrome, X-linked, 1

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.