cDNA level identifier (n.a.):
c.(5734+1_5735-1)_(5943+1_5944-1)del
Archive identifier/Other designation:
Exon 39-40 deletion
Genomic location hg(0)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).