Protein level identifier (NP_071372):
p.Arg709Thr
cDNA level identifier (NM_022089):
c.2126G>C
Gene level identifier:
g.19920G>C
Reference, alternative allele:
C, G
Genomic location hg(0)
1:17318504 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).