cDNA level identifier (n.a.):

c.413-26603_534+367del27092ins28

Gene level identifier:

g.499917_527008delins28

Archive identifier/Other designation:

deletion of exon 4

Reference, alternative allele:

C+27092, C+28

Genomic location hg(19)

6:162621795 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Definitely pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 compound heterozygous (4 in total).