Protein level identifier (n.a.):
p.Arg313Leu
cDNA level identifier (n.a.):
c.938G>T
Gene level identifier:
g.5113G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
11:2187995 (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 homozygous (1 in total).