cDNA level identifier (n.a.):
c.172-87670_534+27499del
Gene level identifier:
g.377338_554140del
Archive identifier/Other designation:
deletion of exons 3-4
Reference, alternative allele:
T+176804, T
Genomic location hg(19)
6:162594663 (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).