ENU-induced A to T transversion at base pair 36,778,218 (v38) on chromosome 1, or base pair 16,421 in the GenBank genomic region NC_000067. The mutation corresponds to residue 791 in the mRNA sequence NM_001289766 within exon 4 of 13 total exons. The mutation results in a histidine to leucine substitution at position 210 (H210L) in the protein. (J:254830)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count