cDNA level identifier (n.a.):

c.535-104014_618+24033delTGAGTGATGCCTins

Gene level identifier:

g.569584_697714delTGAGTGATGCCTins

Archive identifier/Other designation:

deletion of exon 5

Reference, alternative allele:

C+128000, C+AGGCATCACTCA

Genomic location hg(19)

6:162451089 (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:

3 homozygous (3 in total).