ENU-induced G to T transversion at base pair 5,760,826 (v38) on chromosome 19, or base pair 10,589 in the GenBank genomic region NC_000085. The mutation corresponds to residue 1,551 (c.1551G>T) in the mRNA sequence NM_023912.3 within exon 10 of 17 total exons. The mutation results in a valine to phenylalanine substitution at position 488 (p.V488F) in the SCYL1 protein. (J:274649)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count