Protein level identifier (NP_006740):
p.Tyr386*
cDNA level identifier (NM_006749):
c.1158C>A
Gene level identifier:
g.102198C>A
Archive identifier/Other designation:
p.Thr386*
Reference, alternative allele:
G, T
Genomic location hg(19)
8:42294872 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
3 heterozygous (3 in total).