cDNA level identifier (n.a.):
c.413-26603_534+367del27092ins28
Gene level identifier:
g.499917_527008delins28
Archive identifier/Other designation:
deletion of exon 4
Reference, alternative allele:
C+27092, C+28
Genomic location hg(19)
6:162621795 (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:
4 compound heterozygous (4 in total).