cDNA level identifier (n.a.):
c.(682+1_683-1)_(*3149_?)del
Archive identifier/Other designation:
Exon 5-17 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:
2 heterozygous (2 in total).