Protein level identifier (NP_001073136):
p.Gln249*
cDNA level identifier (NM_001079668):
c.745C>T
Gene level identifier:
g.3411C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
14:36986944 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).