cDNA level identifier (n.a.):

c.(412+1_413-1)_(534+1_535-1)dup

Archive identifier/Other designation:

deletion of exon 4

Genomic location hg(19)

not available

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 1 heterozygous, 3 compound heterozygous (5 in total).