A 1 bp deletion in exon 5 is predicted to result in a frameshift at amino acid 553 of the endcoded protein. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count