Protein level identifier (NP_002599):
p.Gln145*
cDNA level identifier (NM_002608):
c.433C>T
Gene level identifier:
g.13107C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
22:39627650 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
Number of all included cases:
5 heterozygous (5 in total).