Protein level identifier (n.a.):
p.Cys289Gly
cDNA level identifier (n.a.):
c.865T>G
Gene level identifier:
g.941994T>G
Archive identifier/Other designation:
c.966G>A
Reference, alternative allele:
A, C
Genomic location hg(19)
6:162206810 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
3 homozygous (3 in total).