Variant (rsID / SNP)

rs797044723

rs797044723 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: Microsatellite
Cytoband: Xq21.1
HGVS: NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs)

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.