Protein level identifier (n.a.):
p.Cys332*
cDNA level identifier (n.a.):
c.996C>A
Gene level identifier:
g.1178831C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
6:161969973 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 homozygous (2 in total).