Protein level identifier (NP_001073136):
p.Gly174Cys
cDNA level identifier (NM_001079668):
c.520G>T
Gene level identifier:
g.3186G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
14:36987169 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).