Protein level identifier (n.a.):

p.Gln389Serfs*9

cDNA level identifier (n.a.):

c.1163_1164insAAGT

Gene level identifier:

g.15637_15638insAAGT

Archive identifier/Other designation:

AAGT duplication at bp 1163 in exon 11

Reference, alternative allele:

C, CAAGT

Genomic location hg(19)

23:19377647 (not available on ExAC)

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:

2 n.a. (2 in total).