Variant (rsID / SNP)

rs193922098

rs193922098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCD1. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCD1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
Allele change: Missense_R280C

Associated conditions / phenotypes

Adrenoleukodystrophy|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.