Protein level identifier (NP_115785):
p.Gly309Asp
cDNA level identifier (NM_032409):
c.926G>A
Gene level identifier:
g.11185G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
1:20971132 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
32
Positive functional evidence:
Number of all included cases:
3 homozygous (3 in total).