Protein level identifier (NP_001135811):
p.Gln14*
cDNA level identifier (NM_001142339):
c.40C>T
Gene level identifier:
g.63518C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
18:11752472 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).