cDNA level identifier (n.a.):
c.(586+1_587-1)_(1245+1_1246-1)del
Archive identifier/Other designation:
Exon 4-9 deletion
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).