CRISPR-targeting introduced a G to A change that produces the amino acid substitution of serine for glycine at position 34 (G34S). The p.G34S mutation is associated with autism spectrum disorder in humans. (J:342969)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count