This mutation is a 11 nucleotide deletion starting at codon 118. It intorduces a shift in the reading frame after codon 121. 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