cDNA level identifier (n.a.):

c.8-224652_618+32307dupinvAAGATTTins

Gene level identifier:

g.59647_705988dupinvAAGATTTins

Archive identifier/Other designation:

duplication of exons 2-5

Reference, alternative allele:

A+646340, A+646340dupinvAAATCAAins

Genomic location hg(19)

6:162442816 (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).