cDNA level identifier (n.a.):
c.(734+1_735-1)_(933+1_934-1)del
Archive identifier/Other designation:
deletion of exons 7-8
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:
2 compound heterozygous (2 in total).