Protein level identifier (n.a.):
p.Arg484His
cDNA level identifier (n.a.):
c.1451G>A
Gene level identifier:
g.7509G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
11:2185599 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).