Protein level identifier (n.a.):
p.Trp445*
cDNA level identifier (n.a.):
c.1334G>A
Gene level identifier:
g.1377609G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
6:161771195 (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:
4 homozygous (4 in total).