Variant (rsID / SNP)

rs713993050

rs713993050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCD1. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCD1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Cytoband: Xq28
HGVS: NM_000033.4(ABCD1):c.253dup (p.Arg85fs)

Associated conditions / phenotypes

Adrenoleukodystrophy

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.