Protein level identifier (NP_060575):
p.Glu37Glyfs*10
cDNA level identifier (NM_018105):
c.109dupG
Gene level identifier:
g.3980dupG
Reference, alternative allele:
C, CC
Genomic location hg(19)
8:42694487 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).