Protein level identifier (n.a.):
p.Arg245Met
cDNA level identifier (n.a.):
c.734G>T
Gene level identifier:
g.4009G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
11:2189099 (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:
3 compound heterozygous (3 in total).