A G-to-A transition mutation in codon 84 alters this residue from a glycine to an arginine in the encoded protein (p.G84R). This position corresponds to the NLIP domain of the protein and is highly conserved in other species. (J:66739)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count