Protein level identifier (n.a.):
p.Arg210Glnfs*7
cDNA level identifier (n.a.):
c.625insG
Gene level identifier:
g.37415insG
Reference, alternative allele:
C, GC
Genomic location hg(19)
Gene name:
Consequence:
frameshift insertion
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).