Protein level identifier (NP_115785):
p.Glu417Gly
cDNA level identifier (NM_032409):
c.1250A>G
Gene level identifier:
g.15177A>G
Reference, alternative allele:
A, G
Genomic location hg(19)
1:20975124 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
33
Number of all included cases:
1 homozygous (1 in total).