cDNA level identifier (n.a.):
c.(412+1_413-1)_(734+1_735-1)del
Archive identifier/Other designation:
deletion of exons 4-6
Genomic location hg(19)
not available
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
6 homozygous, 4 compound heterozygous (10 in total).