cDNA level identifier (n.a.):

c.1074_1107delins

Gene level identifier:

g.15084_15117delins

Genomic location hg(19)

23:19377094 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).