ENU-induced A to G transition at base pair 53,503,018 (v38) on chromosome 9, or base pair 33,799 in the GenBank genomic region NC_000075. The mutation corresponds to residue 2,910 in the mRNA sequence NM_007499 within exon 18 of 64 total exons. The mutation results in an aspartic acid to glycine substitution at amino acid 924 (D924G) in the ATM protein. (J:272821)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count