One breakpoint of this inversion is in the first intron and it separates exon 1 from rest of gene. The location of other breakpoint was not identified. This mutation produces two different truncated transcripts. (J:44601)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count