Variant (rsID / SNP)

rs148015780

rs148015780 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ATRXBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.846C>T (p.Ser282=)
Allele change: Synonymous_S282S

Associated conditions / phenotypes

Alpha thalassemia-X-linked intellectual disability syndrome|History of neurodevelopmental disorder

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.