Protein level identifier (n.a.):
p.His2219dup
cDNA level identifier (n.a.):
c.6657_6659dupCCA
Gene level identifier:
g.415109_415111dupCCA
Reference, alternative allele:
A, ATGG
Genomic location hg(0)
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
16
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous, 1 compound heterozygous (3 in total).