cDNA level identifier (NM_006516):
c.(?_-179)_(*1660_?)del
Archive identifier/Other designation:
microdeletion, null allele
Genomic location hg(19)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).