Protein level identifier (n.a.):
p.Ile689Phe
cDNA level identifier (n.a.):
c.2065A>T
Gene level identifier:
g.78477A>T
Reference, alternative allele:
T, A
Genomic location hg(0)
22:38509631 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
19
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).