Protein level identifier (NP_006740):
p.Glu476*
cDNA level identifier (NM_006749):
c.1426G>T
Gene level identifier:
g.102466G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
8:42294604 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).