Protein level identifier (NP_001243371):
p.Glu260*
cDNA level identifier (NM_001256442):
c.776dupG
Gene level identifier:
g.1975dupG
Reference, alternative allele:
A, AG
Genomic location hg(19)
16:29825145 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).