cDNA level identifier (n.a.):
c.171+11347_618+17328del395200
Gene level identifier:
g.295809_691009del
Archive identifier/Other designation:
deletion of exons 3-5
Reference, alternative allele:
A+395200, A
Genomic location hg(19)
6:162457794 (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:
1 compound heterozygous (1 in total).