cDNA level identifier (n.a.):
c.412+25822_535-71707delinsTGA
Gene level identifier:
g.491069_601891delinsTGA
Archive identifier/Other designation:
deletion of exon 4
Reference, alternative allele:
T+110823, TTCA
Genomic location hg(19)
6:162546912 (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 compound heterozygous (1 in total).