Replacement of the last nucleotide of exon 3, an adenine, by guanine has disrupted the splice signal, causing exon 3 to be skipped during RNA processing. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count