This spontaneous G to A transition in exon 3 (c.233G>A) replaces a highly conserved glycine with an aspartic acid at amino acid 78 in the amino terminal domain. (J:243701)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count