cDNA level identifier (n.a.):

c.734+61166_871+2877dupinsTGCAATT

Gene level identifier:

g.815521_944877dupinsTGCAATT

Archive identifier/Other designation:

duplication of exon 7

Reference, alternative allele:

A+129242, A+129242dupinsAATTGCA

Genomic location hg(19)

6:162203926 (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:

7 compound heterozygous (7 in total).