A T-to-G transversion at nucleotide 788, in exon 7, results in replacement of valine by glycine at amino acid position 263 of the protein (V263G; Val263Gly). (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count