Protein level identifier (NP_060575):
p.Phe22Ser
cDNA level identifier (NM_018105):
c.65T>C
Gene level identifier:
g.296T>C
Reference, alternative allele:
A, G
Genomic location hg(19)
8:42698173 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).