The mutation is a G to T transversion at base pair 95,413,081 (v38) on chromosome 10, or base pair 4,173 in the GenBank genomic region NC_000076. The mutation corresponds to residue 631 in the mRNA sequence NM_145223 within exon 3 of 3 total exons. The mutated nucleotide converts glutamine 57 to a stop codon.