The mutation is a G to T transversion at base pair 30,869,509 (Build 38) on Chromosome 7, or base pair 10,834 in the GenBank genomic region NC_000073, within the donor splice site of intron 9. The mutation is predicted to result in in-frame skipping of the 264-nucleotide exon 9 (out of 14 total exons), which encodes amino acids 612-699. The effect of the mutation at the cDNA and protein levels has not been tested.