Protein level identifier (NP_060575):
p.Phe45Leufs29*
cDNA level identifier (NM_018105):
c.134_135insGGGTT; c.137_139delAAC
Gene level identifier:
g.4007_4008insGGGTT; g.4010_4012delAAC
Reference, alternative allele:
GGTTTA, GTAAACCC
Genomic location hg(19)
8:42694456 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Definitely pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
35 heterozygous (35 in total).