cDNA level identifier (NM_032409):
c.1123+1247_*881del
Gene level identifier:
g.13516_18118del
Archive identifier/Other designation:
deletion of exons 6-8
Reference, alternative allele:
T+4603bp, T
Genomic location hg(19)
1:20973462 (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).