cDNA level identifier (NM_007262):
c.(252+1_253-1)_(322+1_323-1)del
Archive identifier/Other designation:
deletion of exon 5
Genomic location hg(19)
not available
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:
3 homozygous (3 in total).