ENU-induced A to T transversion at base pair 66,859,821 (v38) on chromosome 18, or base pair 667 in the GenBank genomic region NC_000084. The mutation corresponds to residue 667 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an asparagine (N) to tyrosine (Y) substitution at position 74 (N74Y). (J:225939)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count