A spontaneous C-to-T mutation (G-to-A on negative gene strand) results in a glycine to glutamic acid change at codon 244 (p.G244E). (J:222308, J:223790)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count