All variants in the WDR45 gene

Information The variants shown are described using the NM_007075.4 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 6 c.249G>A - r.(?) p.(Trp83*) Pathogenic g.29431G>A - Shen-Yang Lim et al.(2018) WDR45_000001 rs1602539456 - - Nur Aisyah Athirah
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