Protein level identifier (n.a.):

p.Cys323_Val324del

cDNA level identifier (n.a.):

c.968_973delGTGTCC

Gene level identifier:

g.1178803_1178808delGTGTCC

Reference, alternative allele:

AGGACAC, A

Genomic location hg(19)

6:161969995 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).