cDNA level identifier (n.a.):
c.(7+1_8-1)_(171+1_172-1)del
Archive identifier/Other designation:
deletion of exon 2
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:
25 homozygous, 1 heterozygous, 48 compound heterozygous (74 in total).