Variant (rsID / SNP)

rs200420513

rs200420513 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATRX. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATRXConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.4120+4A>C
Allele change: Silent

Associated conditions / phenotypes

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.