cDNA level identifier (n.a.):
c.(5634+1_5635-1)_(*1604_?)del
Archive identifier/Other designation:
Exon 39-47 deletion
Genomic location hg(0)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).