cDNA level identifier (n.a.):
c.172-50_734+49del
Gene level identifier:
g.464957_754519del
Archive identifier/Other designation:
deletion of exons 3-6
Reference, alternative allele:
A+289563bp, A
Genomic location hg(19)
6:162394284 (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 compound heterozygous (1 in total).