cDNA level identifier (n.a.):

c.534+17825_735-64158del

Gene level identifier:

g.544466_877706del

Archive identifier/Other designation:

deletion of exons 5-6

Reference, alternative allele:

T+333241, T

Genomic location hg(19)

6:162271097 (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 compound heterozygous (2 in total).