Protein level identifier (NP_115785):
p.Gly409Val
cDNA level identifier (NM_032409):
c.1226G>T
Gene level identifier:
g.15153G>T
Reference, alternative allele:
G, T
Genomic location hg(19)
1:20975100 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
32
Number of all included cases:
1 homozygous (1 in total).