cDNA level identifier (n.a.):
c.934-20481_1083+134117del
Gene level identifier:
g.1158288_1313035del
Archive identifier/Other designation:
deletion of exon 9
Reference, alternative allele:
A+154kb, A
Genomic location hg(19)
6:161835768 (not available on ExAC)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).