Protein level identifier (NP_115785):
p.Gln456*
cDNA level identifier (NM_032409):
c.1366C>T
Gene level identifier:
g.15655C>T
Reference, alternative allele:
C, T
Genomic location hg(0)
1:20975602 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Not available
CADD score:
42
Number of all included cases:
18 homozygous, 1 compound heterozygous (19 in total).