A two base pair GC deletion was identified 24 codons downstream the first putative ATG site. The deletion alters the reading frame leading to a premature stop codon at amino acid position 105. (J:66943)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count