Protein level identifier (n.a.):
p.Leu29Profs*19
cDNA level identifier (n.a.):
c.85dupC
Gene level identifier:
g.306dupC
Reference, alternative allele:
C, CC
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
15
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).