cDNA level identifier (n.a.):
c.(933+1_934-1)_(1083+1_1084-1)del
Archive identifier/Other designation:
deletion of exon 9
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:
3 homozygous, 5 heterozygous, 11 compound heterozygous (19 in total).