Protein level identifier (NP_060575):
p.Gln3*
cDNA level identifier (NM_018105):
c.7C>T
Gene level identifier:
g.238C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42698231 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
36
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).