Protein level identifier (NP_001073136):
p.Thr233Arg
cDNA level identifier (NM_001079668):
c.698C>G
Gene level identifier:
g.3364C>G
Archive identifier/Other designation:
p.Thr203Arg
Reference, alternative allele:
G, C
Genomic location hg(19)
14:36986991 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).