ENU-induced A to T transversion at base pair 19,812,484 (v38) on chromosome 7, or base pair 10,284 in the GenBank genomic region NC_000073. The mutation corresponds to residue 503 in the mRNA sequence NM_033601 within exon 3 of 9 total exons. The mutation results in an asparagine to isoleucine substitution at position 142 (N142I) in the BCL3 protein. (J:274858)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count