cDNA level identifier (n.a.):
c.(463+1_464-1)_(662+1_663-1)del
Archive identifier/Other designation:
Exon5del
Genomic location hg(19)
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:
6 heterozygous (6 in total).