cDNA level identifier (n.a.):

c.-4069_322+1852del

Gene level identifier:

g.4443-18524del

Archive identifier/Other designation:

deletion of exons 1-5

Genomic location hg(19)

1:8018792 (not available on ExAC)

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:

4 homozygous (4 in total).