This 53,008 bp deletion, spanning from Chr 13: 76,815,703 bp to 76,868,709 bp deletes all of exons 11-15, 7,270 bp of flanking intron 10-11 and 40,908 bp of flanking intron 15-16, and is expected to eliminate the third C2 deomain and the two transmembrane helices, in addition to disrupting an enhancer of Nr2f1. (J:264553)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count