cDNA level identifier (n.a.):
c.(109+1_110-1)_(662+1_663-1)del
Archive identifier/Other designation:
Exon2-5del
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:
2 heterozygous (2 in total).