cDNA level identifier (n.a.):
c.(662+1_663-1)_(1253+1_1254-1)del
Archive identifier/Other designation:
Exon6-9del
Genomic location hg(19)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).