Protein level identifier (n.a.):
p.Cys352Tyr
cDNA level identifier (n.a.):
c.1055G>A
Gene level identifier:
g.1178890G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
6:161969914 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).