C to T transition at base pair 95,015,174 (v38) on chromosome 13, or base pair 38,960 in the GenBank genomic region NC_000079. The mutation corresponds to residue 1,036 (c.1036C>T) in the mRNA sequence NM_172590.3 within exon 10 of 14 total exons. The mutation results in substitution of glutamine 281 for a premature stop codon (p.Q281*) in the WDR41 protein.