Variant (rsID / SNP)

rs387907329

rs387907329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to WDR45. Clinical significance in the table: Pathogenic.

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Reference-table entries

WDR45Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)
Allele change: Nonsense_R234X

Associated conditions / phenotypes

Neurodegeneration with brain iron accumulation 5|6 conditions|Inborn genetic diseases

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.