ENU-induced C to A transversion at base pair 20,528,195 (v38) on chromosome 14, or base pair 18,379 in the GenBank genomic region NC_000080. The mutation corresponds to residue 619 in the mRNA sequence NM_008914 within exon 4 of 14 total exons. The mutation results in substitution of cysteine 162 for a premature stop codon (C162*) in the encoded protein. (J:254889)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count