A spontaneous mutation with an A insertion in a stretch of four As, coding nucleotides 586-589, resulting in a frame-shift and premature stop codon, eliminating 155 amino acids including the zinc finger domain. (J:156938)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count