Protein level identifier (NP_002599):
p.Arg149*
cDNA level identifier (NM_002608):
c.445C>T
Gene level identifier:
g.13119C>T
Archive identifier/Other designation:
p.R149*
Reference, alternative allele:
G, A
Genomic location hg(19)
22:39627638 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
2 heterozygous (2 in total).