Ciita^m1Btlr

The mutation is a G to A transition at base pair 10,513,288 (v38) on chromosome 16, or base pair 33,274 in the GenBank genomic region NC_000082 within the donor splice site of intron 11. The effect of the mutation at the cDNA and protein level has not examined, but the mutation is predicted to result in an in-frame skipping of the 159-nucleotide exon 11 (out of 19 total exons). (J:221483)