cDNA level identifier (n.a.):
c.(1098+1_1099-1)_(1173+1_1174-1)del
Archive identifier/Other designation:
Exon 8 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:
5 heterozygous (5 in total).