Protein level identifier (NP_006740):
p.Arg467*
cDNA level identifier (NM_006749):
c.1399C>T
Gene level identifier:
g.102439C>T
Archive identifier/Other designation:
p.R467*
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42294631 (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:
2 heterozygous (2 in total).