cDNA level identifier (NM_032409):
c.(?_-94)_(387+1_388-1)del
Archive identifier/Other designation:
deletion of exon 1
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:
2 homozygous, 1 compound heterozygous (3 in total).