A G-to-A transition at coding nucleotide 466 replaces a glycine with serine at amino acid residue 156 (p.G156S), affecting the highly conserved H5 domain of the channel. (J:29230, J:30864)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count