ENU-induced G to A transition at base pair 100,076,906 (v38) on chromosome 10, or base pair 61,272 in the GenBank genomic region NC_000076 within the splice donor site of intron 4 (1-base pair from exon 4). The effect of the mutation at the cDNA and protein levels has not been examined. (J:265215)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count