cDNA level identifier (n.a.):

c.619-46243_734+71252dup

Gene level identifier:

g.708112_825722dup

Archive identifier/Other designation:

duplication of exon 6

Reference, alternative allele:

C, C+117610

Genomic location hg(19)

6:162323081 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).