cDNA level identifier (n.a.):
c.735-74079_871+19735del
Gene level identifier:
g.867785_961735del
Archive identifier/Other designation:
deletion of exon 7
Reference, alternative allele:
A+93950, A
Genomic location hg(19)
6:162187068 (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 homozygous (2 in total).