Protein level identifier (n.a.):
p.Arg594Thrfs*37
cDNA level identifier (n.a.):
c.1779dupA
Gene level identifier:
g.90814dupA
Reference, alternative allele:
A, AA
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).