Protein level identifier (n.a.):
p.Thr384Ser
cDNA level identifier (n.a.):
c.1150A>T
Gene level identifier:
g.75582A>T
Reference, alternative allele:
T, A
Genomic location
3:33063141 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).