Atm^m6Btlr

C to T substitution at base pair 53,518,559 (v38) on chromosome 9, or base pair 18,258 in the GenBank genomic regionNC_000075.The mutation corresponds to a G>A substitution at residue 1,315 in the mRNA sequence NM_007499 within exon 9 of 64 total exons. The mutation results in substitution of tryptophan 392 for a premature stop codon (W392*) in the ATM protein. (J:274964)