ENU-induced T to C transition at base pair 149,652,699 (v38) on chromosome 4, or base pair 49,868 in the GenBank genomic region NC_000070. The mutation corresponds to residue 2,917 in the mRNA sequence NM_001029837 within exon 20 of 23 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 880 (L880P) in all isoforms. (J:236693)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count