Protein level identifier (NP_002599):
p.Gln147*
cDNA level identifier (NM_002608):
c.439C>T
Gene level identifier:
g.13113C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
22:39627644 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
1 heterozygous (1 in total).