cDNA level identifier (n.a.):
c.(?_-221)_(502+1_503-1)del
Archive identifier/Other designation:
Exon 1-2 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:
1 heterozygous (1 in total).