ENU-induced C to A transversion at base pair 19,811,580 (v38) on chromosome 7, or base pair 11,188 in the GenBank genomic region NC_000073. The mutation corresponds to residue 702 in the mRNA sequence NM_033601 within exon 4 of 9 total exons. The mutation results in substitution of cysteine 208 for a premature stop codon (C208*) in the protein. (J:255184)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count