Protein level identifier (NP_000152):
p.Gly203Arg
cDNA level identifier (NM_000161):
c.607G>A
Gene level identifier:
g.57060G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
14:55312511 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).