cDNA level identifier (n.a.):

c.(1083+1_1084-1)_(*2679_?)del

Archive identifier/Other designation:

deletion of exons 10-12

Genomic location hg(19)

not available

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:

1 homozygous, 1 compound heterozygous (2 in total).