Protein level identifier (NP_113606):
p.Gly400Val
cDNA level identifier (NM_031418):
c.1199G>T
Gene level identifier:
g.358179G>T
Reference, alternative allele:
G, T
Genomic location hg(19)
11:26569007 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).