cDNA level identifier (n.a.):
c.534+457_734+41025del
Gene level identifier:
g.526977_795495del
Archive identifier/Other designation:
deletion of exons 5-6
Reference, alternative allele:
G+268398, G
Genomic location hg(19)
6:162353308 (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).