This spontaneous mutation breakpoints are 110 kb upstream from exon 3 and 30 kb downstream from exon 8. The allele is predicted to make a truncated protein. (J:271079)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count