cDNA level identifier (n.a.):
c.172-4427_413-6108del
Gene level identifier:
g.460580_520412del
Archive identifier/Other designation:
deletion of exon 3
Reference, alternative allele:
A+59833, A
Genomic location hg(19)
6:162628391 (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).