cDNA level identifier (n.a.):
c.(7+1_8-1)_(412+1_413-1)del
Archive identifier/Other designation:
deletion of exons 2-3
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:
3 homozygous, 2 heterozygous, 19 compound heterozygous (24 in total).