cDNA level identifier (n.a.):

c.171+67708_734+58232delins28

Gene level identifier:

g.352170_812702delins28

Archive identifier/Other designation:

deletion of exons 3-6

Reference, alternative allele:

G+460533, GTTGATCCACCTGTCTCAGCAGGTGGAGA

Genomic location hg(19)

6:162336101 (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:

2 homozygous (2 in total).