cDNA level identifier (NM_032409):
c.(776+1_777-1)_(959+1_960-1)del
Archive identifier/Other designation:
deletion of exon 4
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:
3 homozygous (3 in total).