ENU-induced T to C transition at base pair 44,710,407 (v38) on chromosome 4, or base pair 34 in the GenBank genomic region NC_000070. The mutation corresponds to residue 34 in the mRNA sequence NM_008782 within exon 1 of 10 total exons. The mutation results in a methionine to threonine substitution at position 1 (M1T) in all variants of the protein. (J:254825)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count