cDNA level identifier (NM_032409):

c.(?_-94)_(387+1_388-1)del

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:

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