cDNA level identifier (n.a.):

c.413-16409_534+27042delinsATGCCTGTAA

Gene level identifier:

g.510111_553683

Archive identifier/Other designation:

deletion of exon 4

Reference, alternative allele:

C+43575, CATTACAGGCAT

Genomic location hg(19)

6:162595119 (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).