cDNA level identifier (n.a.):
c.(1493+1_1494-1)_(1536+1_1537-1)del
Archive identifier/Other designation:
Exon 13 deletion
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).