cDNA level identifier (NM_032409):

c.(387+1_388-1)_(959+1_960-1)del

Archive identifier/Other designation:

deletion of exons 2-4

Genomic location

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 compound heterozygous (1 in total).