Protein level identifier (n.a.):
p.Thr329Ala
cDNA level identifier (n.a.):
c.985A>G
Gene level identifier:
g.51028A>G
Reference, alternative allele:
T, C
Genomic location
3:33087695 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
Number of all included cases:
2 compound heterozygous (2 in total).