Protein level identifier (n.a.):
p.Thr86Hisfs*6
cDNA level identifier (n.a.):
c.256delA
Gene level identifier:
g.27874delA
Reference, alternative allele:
GT, G
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).