Mutation Description
This mutation has been characterized by RT-PCR. The precise genomic mutation is unknown.
Mutation Effect
This mutation results in the insertion of 105 bp of sequence between exons 18-19 and a frameshift. The insert causes the addition of ~12 new amino acids after ~MET696, followed by premature termination of a predicted 708 residue protein.
Sequence context
UNKNOWN
Cell Line and Pedigree Information
SEP
Reference(s)