cDNA level identifier (n.a.):
c.(?_-103-1)_(7+1_8-1)dup
Archive identifier/Other designation:
duplication of promotor + exon 1
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:
1 homozygous, 3 compound heterozygous (4 in total).