Protein level identifier (n.a.):
p.Arg328Trp
cDNA level identifier (n.a.):
c.982C>T
Gene level identifier:
g.5157C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
11:2187951 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).