ENU-induced T to C transversion at base pair 74,445,630 (v38) on chromosome 17, or base pair 13,514 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,973 in the mRNA sequence NM_001033367 within exon 4 of 9 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 586 (I586T). (J:225933)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count