Protein level identifier (NP_001073136):
p.Glu205*
cDNA level identifier (NM_001079668):
c.613G>T
Gene level identifier:
g.3279G>T
Archive identifier/Other designation:
c.523G>T; p.E175X
Reference, alternative allele:
C, A
Genomic location hg(19)
14:36987076 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
39
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).