Protein level identifier (n.a.):
p.Cys171Tyr
cDNA level identifier (n.a.):
c.512G>A
Gene level identifier:
g.1162G>A
Reference, alternative allele:
G, A
Genomic location hg(0)
2:73115650 (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:
2 compound heterozygous (2 in total).