Protein level identifier (n.a.):
p.His347Tyr
cDNA level identifier (n.a.):
c1039C>T
Gene level identifier:
g.5214C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
11:2187894 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).