cDNA level identifier (NM_032409):
c.(959+1_960-1)_(1123+1_1124-1)del
Archive identifier/Other designation:
deletion of exon 5
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Not available
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
4 homozygous (4 in total).