Protein level identifier (NP_060575):
p.Ser51Arg
cDNA level identifier (NM_018105):
c.153C>G
Gene level identifier:
g.4026C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
8:42694443 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).