A single thymidine nucleotide insertion is found in exon 8 between positions 1169 and 1170. This results in a frame shift and creation of a premature stop codon downstream. (J:121817)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count