CRISPR-targeting deleted the constitutive promoter, exon 1B, and a possible alternative exon 1C required for the transcription of the p110 isoform (chr3: 89714040-89715631; build 38). Expression of isoform p150 is not altered. (J:306164)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count