This allele comprises a single nucleotide insertion of a cysteine, located within a run of cysteines in exon four. The insertion produces a frameshift at amino acid 103, followed by a premature stop codon. (J:73921, J:73923)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count