cDNA level identifier (n.a.):
c.(682+1_683-1)_(1004+1_1005-1)del
Archive identifier/Other designation:
Exon 5-6 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).