cDNA level identifier (n.a.):

c.535-49422_619-12906del

Gene level identifier:

g.624176_741449del

Archive identifier/Other designation:

deletion of exon 5

Reference, alternative allele:

A+117274, A

Genomic location hg(19)

6:162407354 (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:

2 homozygous (2 in total).