ENU-induced T to C transition at base pair 95,260,130 (v38) on chromosome 8, or base pair 46,456 in the GenBank genomic region NC_000074. The mutation corresponds to residue 2,572 in the mRNA sequence NM_001195413 within exon 23 of 33 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 837 (L837P) in the protein. (J:255014)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count