cDNA level identifier (n.a.):
c.(933+1_934-1)_(*2679_?)del
Archive identifier/Other designation:
deletion of exons 9-12
Genomic location hg(19)
not available
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
5 compound heterozygous (5 in total).