This allele was originally identified by a noncomplementation test result with Myo5ad. A combination of RNA and genomic sequence analysis indicates that this mutation comprises a less than 1 kb genomic deletion that removes 8 bp of sequence including a splice acceptor site. (J:47547)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count