A G2918A transition in exon 11 resulted in a W973X nonsense mutation. This mutation would lead to a protein lacking a large part of the SNF2 and all other more C-terminal located domains. (J:104123)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count