cDNA level identifier (n.a.):

c.172-99350_871+11495del

Gene level identifier:

g.365657_953495del

Archive identifier/Other designation:

deletion of exons 3-7

Reference, alternative allele:

C+587kb, C

Genomic location hg(19)

6:162195308 (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:

1 compound heterozygous (1 in total).