cDNA level identifier (n.a.):
c.1246-2896_1493+523dup
Gene level identifier:
g.70057_74101dup
Archive identifier/Other designation:
Exon 10-12 duplication
Reference, alternative allele:
T, T+4044
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:
22 heterozygous (22 in total).