cDNA level identifier (n.a.):
c.(586+1_587-1)_(*3149_?)del
Archive identifier/Other designation:
Exon 4-17 deletion
Genomic location
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).