cDNA level identifier (n.a.):

c.172-5243_412+18307del

Gene level identifier:

g.450764_483554del

Archive identifier/Other designation:

deletion of exon 3

Reference, alternative allele:

G+166157, G

Genomic location hg(19)

6:162665249 (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:

1 compound heterozygous (1 in total).