cDNA level identifier (n.a.):

c.(1143+1_1144-1)_(1167+1_1168-1)dup

Archive identifier/Other designation:

Dup. 1143 (24ins)

Genomic location hg(19)

not available

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 n.a. (1 in total).