Protein level identifier (NP_113606):
p.Gly973Arg
cDNA level identifier (NM_031418):
c.2917G>C
Gene level identifier:
g.471134G>C
Reference, alternative allele:
G, C
Genomic location hg(19)
11:26681962 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).