An A-to-G base substitution, which resulted in a methionine to valine substitution at position 826 (p.M826V), was identified within a tyrosine kinase domain of Musk. (J:245129)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count