Protein level identifier (n.a.):
p.Glu143Glyfs*8
cDNA level identifier (n.a.):
c.427dupG
Gene level identifier:
g.23893dupG
Reference, alternative allele:
G, GG
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).