cDNA level identifier (n.a.):
c.(1245+1_1246-1)_(1728+1_1729-1)dup
Archive identifier/Other designation:
Exon 10-16 duplication
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).