Protein level identifier (n.a.):
p.Arg741Gln
cDNA level identifier (n.a.):
c.2222G>A
Gene level identifier:
g.79543G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
22:38508565 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
25
Positive functional evidence:
not available
Number of all included cases:
6 homozygous (6 in total).