cDNA level identifier (n.a.):

c.171+11347_618+17328del395200

Gene level identifier:

g.295809_691009del

Archive identifier/Other designation:

deletion of exons 3-5

Reference, alternative allele:

A+395200, A

Genomic location hg(19)

6:162457794 (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).