Protein level identifier (n.a.):
p.Ile354Ser
cDNA level identifier (n.a.):
c.1061T>G
Gene level identifier:
g.51104T>G
Reference, alternative allele:
A, C
Genomic location
3:33087619 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).