cDNA level identifier (n.a.):
c.(415+1_416-1)_(1493+1_1494-1)dup
Archive identifier/Other designation:
Exon 2-12 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:
1 heterozygous (1 in total).