Protein level identifier (NP_115785):
p.Arg501*
cDNA level identifier (NM_032409):
c.1501C>T
Gene level identifier:
g.16992C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
1:20976939 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Not available
CADD score:
47
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).