A guide RNA is designed to delete one base pair (T) in exon 4 (ENSMUSE00000215695 position 7,447,544 bp), in the catalytic domain of the gene. This mutation is predicted to cause amino acid sequence changes after residue 176 and a premature stop codon at position 327. (J:333090)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count