Protein level identifier (n.a.):

p.His2219dup

cDNA level identifier (n.a.):

c.6657_6659dupCCA

Gene level identifier:

g.415109_415111dupCCA

Reference, alternative allele:

A, ATGG

Genomic location hg(0)

19:13319693 (not available on ExAC)

Gene name:

Consequence:

structural variation

Pathogenicity scoring:

Possibly pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous, 1 compound heterozygous (3 in total).