Protein level identifier (NP_115785):
p.Val170Gly
cDNA level identifier (NM_032409):
c.509T>G
Gene level identifier:
g.4509T>G
Reference, alternative allele:
T, G
Genomic location hg(19)
1:20964456 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
28
Number of all included cases:
1 homozygous (1 in total).