Protein level identifier (n.a.):
p.Ser325Trpfs*9
cDNA level identifier (n.a.):
c.974delC
Gene level identifier:
g.55501delC
Reference, alternative allele:
CG, 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:
9 heterozygous (9 in total).