ENU-induced G to A transition at base pair 108,513,071 (v38) on chromosome 12, or base pair 142,070 in the GenBank genomic region NC_000078 within the splice donor site of intron 10. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in skipping of the 96-base pair exon 10. The mutation would cause an in-frame deletion of 32 amino acids beginning after amino acid 335 of the protein, which is normally 814 amino acids long. (J:272865)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count