Protein level identifier (n.a.):
p.Tyr174His
cDNA level identifier (n.a.):
c.520T>C
Gene level identifier:
g.31736T>C
Reference, alternative allele:
A, G
Genomic location
3:33106987 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).