Lrba^m2Btlr

T to A transversion at base pair 86,664,458 (v38) on chromosome 3, or base pair 440,555 in the GenBank genomic region NC_000069 encoding Lrba. The mutation corresponds to residue 7,353 (c.7353T>A) in the mRNA sequence NM_030695.2 within exon 47 of 57 total exons. The mutation results in substitution of tyrosine 2,356 for a premature stop codon (p.Y2356*) in the LRBA protein. (J:274652)