C to A transversion at base pair 98,909,263 (v38) on chromosome 15, or base pair 8,986 in the GenBank genomic region NC_000081 encoding Lmbr1l. The mutation corresponds to residue 813 (c.813C>A) in the mRNA sequence NM_029098.3 within exon 8 of 17 total exons. The mutation results in substitution of cysteine 212 to a premature stop codon (p.C212*) in the LMBR1L protein. (J:274568)