Protein level identifier (NP_982271):
p.Arg459Pro
cDNA level identifier (NM_203446):
c.1376G>C
Gene level identifier:
g.46460G>C
Archive identifier/Other designation:
c.1376C>G
Reference, alternative allele:
C, G
Genomic location hg(0)
21:34053900 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).