Protein level identifier (n.a.):
p.Arg207Glyfs*9
cDNA level identifier (n.a.):
c.619_620delAG
Gene level identifier:
g.37409_37410delAG
Reference, alternative allele:
CCT, C
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
26 heterozygous (26 in total).