Protein level identifier (n.a.):
p.Arg741Trp
cDNA level identifier (n.a.):
c.2221C>T
Gene level identifier:
g.79542C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38508566 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
2 homozygous, 6 compound heterozygous (8 in total).