Protein level identifier (n.a.):
p.Thr500Ala
cDNA level identifier (n.a.):
c.1498A>G
Gene level identifier:
g.82939A>G
Reference, alternative allele:
T, C
Genomic location
3:33055784 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
5 compound heterozygous (5 in total).