cDNA level identifier (NM_022912):
c.(32+1_33-1)_(417+1_418-1)del
Archive identifier/Other designation:
Deletion of exons 2-5
Genomic location hg(19)
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:
1 heterozygous (1 in total).