Protein level identifier (NP_001073136):
p.Cys117*
cDNA level identifier (NM_001079668):
c.351C>A
Gene level identifier:
g.2063C>A
Archive identifier/Other designation:
C1320A
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36988302 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).