Exon 50 was replaced with one in which a G to A point mutation results in the amino acid substitution of serine for glycine at position 1170 (G1170S). A neomycin resistance cassette was inserted upstream of the modified exon. (J:212712)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count