Protein level identifier (n.a.):
p.Arg177Pro
cDNA level identifier (n.a.):
c.530G>C
Gene level identifier:
g.1180G>C
Reference, alternative allele:
G, C
Genomic location hg(0)
2:73115668 (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:
2 homozygous (2 in total).