Protein level identifier (n.a.):
p.Glu395*
cDNA level identifier (n.a.):
c.1183G>T
Gene level identifier:
g.1367582G>T
Reference, alternative allele:
C, A
Genomic location hg(19)
6:161781222 (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:
1 compound heterozygous (1 in total).