cDNA level identifier (NM_032409):
c.(776+1_777-1)_(1123+1_1124-1)del
Archive identifier/Other designation:
deletion of exons 4-5
Genomic location
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, 1 heterozygous, 2 compound heterozygous (4 in total).