This spontaneous mutation has a 4 base pair duplication in exon 19 resulting in a frameshift with 84 novel amino acids and a premature stop codon that truncates the protein at approximately halfway through the extracellular domain. (J:163979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count