cDNA level identifier (n.a.):

c.171+50347_413-21490del

Gene level identifier:

g.334809_505030del

Archive identifier/Other designation:

deletion of exon 3

Reference, alternative allele:

G+170220, G

Genomic location hg(19)

6:162643774 (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).