The open reading frame of the gene is intact. The mutation is a 10.5 Mb inversion with a breakpoint between chr9:65,515,829-65,515,842 and a breakpoint between chr9:76,008,363-76,008,369. The mutation affects expression of Bmp5 in particular anatomical features within the skeleton. (J:39260, J:45426)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count