Protein level identifier (n.a.):
p.Ile51Thr
cDNA level identifier (n.a.):
c.152T>C
Gene level identifier:
g.24594T>C
Reference, alternative allele:
A, G
Genomic location
3:33114129 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
Number of all included cases:
2 homozygous (2 in total).