This allele contains a single nonsynonymous base substitution , 1135 T to A, that results in an amino acid substitution of asparagine for tyrosine at position 379 (Y379N). (J:130100)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count