Molecular analysis reveals a T-to-C transition in codon 435, resulting in a serine to proline substitution (p.S435P) within transmembrane domain 10 of the protein. (J:72440)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count