Protein level identifier (n.a.):
p.Arg148Cys
cDNA level identifier (n.a.):
c.442C>T
Gene level identifier:
g.28986C>T
Reference, alternative allele:
G, A
Genomic location
3:33109737 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).