cDNA level identifier (n.a.):

c.8-51502_172-33560dupinsT

Gene level identifier:

g.232797_431447dupinsT

Archive identifier/Other designation:

duplication of exon 2

Reference, alternative allele:

G+198650, G+198650dupinsT

Genomic location hg(19)

6:162717356 (not available on ExAC)

Gene name:

Consequence:

structural variation includes copy number variants inversions and translocations

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).