Protein level identifier (NP_060575):
p.Phe22Thrfs*50
cDNA level identifier (NM_018105):
c.63_66delTTTC
Gene level identifier:
g.294_297delTTTC
Reference, alternative allele:
GGAAA, G
Genomic location hg(19)
8:42698171 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).