ENU-induced A to T transversion at base pair 32,563,324 (v38) on chromosome 4, or base pair 324,751 in the GenBank genomic region NC_000070. The mutation corresponds to residue 1,951 in the mRNA sequence NM_001109661 within exon 3 of 5 total exons. The mutation results in a glutamic acid to valine substitution at position 597 (E597V) in the BACH2 protein. (J:272023)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count