ENU-induced A to T transversion at base pair 104,705,128 (v38) on chromosome 12, or base pair 47,197 in the GenBank genomic region NC_000078. The mutation corresponds to residue 3,161 in the mRNA sequence NM_148948 within exon 18 of 27 total exons. The mutation results in a tyrosine to phenylalanine substitution at position 961 (Y961F) in the DICER1 protein. (J:265172)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count