cDNA level identifier (n.a.):
c.534+17825_735-64158del
Gene level identifier:
g.544466_877706del
Archive identifier/Other designation:
deletion of exons 5-6
Reference, alternative allele:
T+333241, T
Genomic location hg(19)
6:162271097 (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:
2 compound heterozygous (2 in total).