cDNA level identifier (n.a.):

c.(?_-103-1)_(171+1_172-1)del

Archive identifier/Other designation:

deletion of promotor and exons 1-2

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:

3 compound heterozygous (3 in total).