Protein level identifier (n.a.):
p.Arg109Trp
cDNA level identifier (n.a.):
c.325C>T
Gene level identifier:
g.28340C>T
Reference, alternative allele:
G, A
Genomic location
3:33110383 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).