An insertion of a single A nucleotide after position 4521 in the coding region results in a frameshift and a premature stop codon. Any encoded protein is predicted to lack a cytoplasmic domain. (J:66738)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count