cDNA level identifier (n.a.):
c.(618+1_619-1)_(734+1_735-1)del
Archive identifier/Other designation:
deletion of exon 6
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:
7 homozygous, 20 compound heterozygous, 1 n.a. (28 in total).