cDNA level identifier (n.a.):
c.(463+1_464-1)_(662+1_663-1)del
Gene level identifier:
g.37254_37452del
Archive identifier/Other designation:
7:94233566del15020bp
Reference, alternative allele:
A+15020bp, A
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:
5 heterozygous (5 in total).