Variant (rsID / SNP)

rs387907328

rs387907328 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: Microsatellite
Cytoband: Xp11.23
HGVS: NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs)

Associated conditions / phenotypes

Neurodegeneration with brain iron accumulation 5|See cases

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.