A large ~8kb insertion is present in a region of exon 2 located between nucleotides 205 and 215 of the coding cDNA. The transcript expressed from this allele contains a 167 bp deletion covering sequences in exon 2, and leads to a frameshift mutation and the appearance of a premature stop codon. The predicted protein is expected to be truncated and missing most of the extracellular domain, the transmembrane domian and the cytoplasmic domain. (J:103167)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count