Protein level identifier (NP_060575):
p.Cys54Phe
cDNA level identifier (NM_018105):
c.161G>T
Gene level identifier:
g.4034G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
8:42694435 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
30
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).