CRISPR/Cas9 technology generated a TGC to GCT change in exon 3 resulting in a cysteine to alanine substitution at amino acid 79 (C79A). (J:302253)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count