This mutation is a deletion of 359 nucleotides from codon 54 to codon 75. This results in a shift in the reading frame for the remainder of the encoded protein. Transcript expression levels from this allele are similar to wild-type. (J:75206)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count