Protein level identifier (NP_000152):
p.Glu236*
cDNA level identifier (NM_000161):
c.706G>T
Gene level identifier:
g.58789G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
14:55310782 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
45
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).