cDNA level identifier (n.a.):
c.(734+1_735-1)_(871+1_872-1)del
Archive identifier/Other designation:
deletion of exon 7
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:
4 homozygous, 18 compound heterozygous (22 in total).