ENU-induced T to C transition at base pair 111,795,603 (v38) on chromosome 12, or base pair 36,755 in the GenBank genomic region NC_000078. The mutation corresponds to residue 1,901 in the mRNA sequence NM_001025360 within exon 14 of 16 total exons. The mutation results in an isoleucine (I) to threonine (T) substitution at position 569 (I569T) in the variants d and e and I561T in variant c. (J:254928)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count