Protein level identifier (n.a.):
p.Arg201Cys
cDNA level identifier (n.a.):
c.601C>T
Gene level identifier:
g.39010C>T
Reference, alternative allele:
G, A
Genomic location
3:33099713 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
Number of all included cases:
2 compound heterozygous (2 in total).