cDNA level identifier (n.a.):
c.(171+1_172-1)_(618+1_619-1)del
Archive identifier/Other designation:
deletion of exons 3-5
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:
7 homozygous, 1 compound heterozygous (8 in total).