cDNA level identifier (n.a.):
c.(?_-103-1)_(7+1_8-1)del
Archive identifier/Other designation:
deletion of promotor + exon 1
Genomic location hg(19)
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 homozygous, 12 compound heterozygous (15 in total).