Protein level identifier (NP_001035):
p.Arg445Cys
cDNA level identifier (NM_001044):
c.1333C>T
Gene level identifier:
g.35645C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
5:1409901 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 n.a. (1 in total).