Protein level identifier (NP_000152):
p.Arg235Gly
cDNA level identifier (NM_000161):
c.703C>G
Gene level identifier:
g.58786C>G
Reference, alternative allele:
G, C
Genomic location hg(0)
14:55310785 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).