cDNA level identifier (n.a.):
c.(534+1_535-1)_(618+1_619-1)del
Archive identifier/Other designation:
deletion of exon 5
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:
26 homozygous, 19 compound heterozygous (45 in total).