Protein level identifier (NP_001073136):
p.Arg243Ser
cDNA level identifier (NM_001079668):
c.727C>A
Gene level identifier:
g.3393C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36986962 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
8 heterozygous (8 in total).