Protein level identifier (n.a.):
p.Ile366Asn
cDNA level identifier (n.a.):
c.1097T>A
Gene level identifier:
g.62558T>A
Reference, alternative allele:
A, T
Genomic location hg(0)
22:38525550 (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:
1 homozygous (1 in total).