Protein level identifier (n.a.):
p.Arg210Glyfs*12
cDNA level identifier (n.a.):
c.627_628insGGGGTGGC
Gene level identifier:
g.37417_37418insGGGGTGGC
Reference, alternative allele:
T, TGCCACCCC
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).