Protein level identifier (n.a.):
p.Asp331Tyr
cDNA level identifier (n.a.):
c.991G>T
Gene level identifier:
g.59184G>T
Reference, alternative allele:
C, A
Genomic location hg(0)
22:38528924 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
27
Positive functional evidence:
Number of all included cases:
3 homozygous, 5 compound heterozygous (8 in total).