cDNA level identifier (n.a.):
c.(870+1_871-1)_(1098+1_1099-1)del
Archive identifier/Other designation:
Exon 6-7 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:
1 heterozygous (1 in total).