cDNA level identifier (n.a.):
c.172-50_412+113dup
Gene level identifier:
g.4957_465360dup
Archive identifier/Other designation:
duplication of exon 3
Reference, alternative allele:
G, G+404bp
Genomic location hg(19)
6:162683444 (not available on ExAC)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).