Protein level identifier (NP_115785):
p.Gln239*
cDNA level identifier (NM_032409):
c.715C>T
Gene level identifier:
g.6477C>T
Reference, alternative allele:
C, T
Genomic location hg(19)
1:20966424 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
39
Positive functional evidence:
not available
Number of all included cases:
3 compound heterozygous (3 in total).