cDNA level identifier (n.a.):
c.413-3460_534+30928del
Gene level identifier:
g.523060_557569del
Archive identifier/Other designation:
deletion of exon 4
Reference, alternative allele:
C+34510, C
Genomic location hg(19)
6:162591234 (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 homozygous (1 in total).