cDNA level identifier (n.a.):
c.1-763_c.683-650del
Archive identifier/Other designation:
51 kb incl. 5' UTR-ex. 4
Reference, alternative allele:
C+50920, C
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:
4 heterozygous (4 in total).