Protein level identifier (n.a.):
p.Ala343Thr
cDNA level identifier (n.a.):
c.1027G>A
Gene level identifier:
g.59220G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38528888 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
17
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).