cDNA level identifier (n.a.):

c.412+16037_734+54332delinsATCTGATAAAGTCAG

Gene level identifier:

g.481284_808802delinsATCTGATAAAGTCAG

Archive identifier/Other designation:

deletion of exons 4-6

Reference, alternative allele:

A+327519, ACTGACTTTATCAGAT

Genomic location hg(19)

6:162304002 (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:

1 compound heterozygous (1 in total).