cDNA level identifier (NM_032409):

c.(776+1_777-1)_(1123+1_1124-1)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:

1 homozygous, 1 heterozygous, 2 compound heterozygous (4 in total).