cDNA level identifier (n.a.):
c.(4253+1_4254-1)_(4391+1_4392-1)del
Archive identifier/Other designation:
Exon 27 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:
2 heterozygous (2 in total).