cDNA level identifier (NM_032409):
c.(1251+1_1252-1)_(1488+1_1489-1)del
Archive identifier/Other designation:
deletion of exon 7
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 in total).