cDNA level identifier (n.a.):

c.413-18966_871+72957delinsA

Gene level identifier:

g.507554_1014957delinsA

Archive identifier/Other designation:

deletion of exons 4-7

Reference, alternative allele:

G+507404, GA

Genomic location hg(19)

6:162133846 (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 homozygous (1 in total).