A spontaneous mutation resulted in a T-to-A transversion in exon 7 results in a premature stop codon at leucine codon 203 (p.L203*). (J:227727)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count