Protein level identifier (NP_061183):
p.Gly120Asp
cDNA level identifier (NM_018713):
c.359 G>A
Gene level identifier:
g.30566G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
1:220101424 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).