Protein level identifier (n.a.):
p.Arg75Glufs*22
cDNA level identifier (n.a.):
c.222dupG
Gene level identifier:
g.465057dupG
Archive identifier/Other designation:
c.321-322insG
Reference, alternative allele:
T, TC
Genomic location hg(19)
6:162683746 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).