Variant (rsID / SNP)

rs3088074

rs3088074 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Benign.

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Reference-table entries

ATRXBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.2785= (p.Glu929=)
Allele change: Missense_Q929E

Associated conditions / phenotypes

History of neurodevelopmental disorder|Alpha thalassemia-X-linked intellectual disability syndrome|Intellectual disability-hypotonic facies syndrome, X-linked, 1

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.