cDNA level identifier (n.a.):
c.(171+1_172-1)_(412+1_413-1)del
Archive identifier/Other designation:
deletion of exon 3
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:
68 homozygous, 2 heterozygous, 76 compound heterozygous, 1 n.a. (147 in total).