Protein level identifier (n.a.):
p.Gly414Arg
cDNA level identifier (n.a.):
c.1240G>A
Gene level identifier:
g.6157G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
11:2186951 (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:
4 compound heterozygous (4 in total).