The molecular basis of this mutation is a T-to-G transversion resulting in a leucine to arginine change in codon 885 (p.L885R). This is a missence mutation resulting in production of an inactive form of Npr2. (J:98753)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count