Protein level identifier (n.a.):
p.Arg337His
cDNA level identifier (n.a.):
c.1010G>A
Gene level identifier:
g.5185G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
11:2187923 (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:
2 compound heterozygous (2 in total).