ENU-induced C to T transition at base pair 59,548,010 (v38) on chromosome 11, or base pair 6,442 in the GenBank genomic region NC_000077. The mutation corresponds to residue 638 in the mRNA sequence NM_145827 within exon 4 of 10 total exons. The mutation results in substitution of arginine (R) 138 to a premature stop codon (R138*) in the protein. (J:234254)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count