Protein level identifier (n.a.):
p.Gly428Arg
cDNA level identifier (n.a.):
c.1282G>A
Gene level identifier:
g.6199G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
11:2186909 (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:
5 compound heterozygous (5 in total).