cDNA level identifier (n.a.):

c.172-11910_413-22473delinsAT

Gene level identifier:

g.453097_504047delinsAT

Archive identifier/Other designation:

deletion of exon 3

Reference, alternative allele:

C+50951, CAT

Genomic location hg(19)

6:162644756 (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).