Protein level identifier (NP_000152):
p.Gly232Asp
cDNA level identifier (NM_000161):
c.695G>A
Gene level identifier:
g.58778G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
14:55310793 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).