Protein level identifier (n.a.):
p.Glu512Glyfs*18
cDNA level identifier (n.a.):
c.1535delA
Gene level identifier:
g.78335delA
Reference, alternative allele:
GA, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).