The mutation is an A-to-G transition causing a missense mutation in nucleotide position 602, introducing glycine in place of glutamic acid in amino acid position 201. (J:67045, J:101682)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count