Protein level identifier (NP_060575):
p.Phe58Ser
cDNA level identifier (NM_018105):
c.173T>C
Gene level identifier:
g.4046T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
8:42694423 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).