The mutation is a deletion of 1 guanosine residue from a run of 4 consecutive guanosines beginning at genomic nucleotide 1888. This mutation is predicted to cause a frameshift mutation resulting in a stop codon 10 codons downstream from the deletion. The predicted protein would lack critical amino acids for biological activity. (J:2964)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count