The mutation is an A to G transition at base pair 34,708,793 (v38) on chromosome 11, or base pair 75,113 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,040 in the NM_033374 mRNA sequence within exon 10 of 52 total exons. The mutation results in an arginine (R) to glycine (G) substitution at position 320 (R320G). (J:221486)