Variant (rsID / SNP)

rs128624224

rs128624224 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: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
Allele change: Missense_R518W

Associated conditions / phenotypes

Adrenoleukodystrophy|X-linked spondyloepimetaphyseal dysplasia

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.