cDNA level identifier (n.a.):

c.413-4730_871+63575del

Gene level identifier:

g.521790_1005575del

Archive identifier/Other designation:

deletion of exons 4-7

Reference, alternative allele:

C+483786, C

Genomic location hg(19)

6:162143228 (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 compound heterozygous (4 in total).