This allele comprises an T-to-A transversion resulting in an isoleucine to asparagine substitution at position 118 (143 in pre-protein) (p.I118N, p.I143N). (J:80496)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count