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
Positive functional evidence:
not available
Number of all included cases:
7 compound heterozygous (7 in total).