cDNA level identifier (n.a.):
c.(662+1_663-1)_(825+1_826-1)del
Gene level identifier:
g.52758_52920del
Archive identifier/Other designation:
7:94232057del6822bp
Reference, alternative allele:
C+6822bp, C
Genomic location hg(19)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).