cDNA level identifier (n.a.):

c.735-21670_1083+48265delinsATG

Gene level identifier:

g.920194_1227183delinsATG

Archive identifier/Other designation:

deletion of exons 7-9

Reference, alternative allele:

G+306990, GCAT

Genomic location hg(19)

6:161921620 (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).