Protein level identifier (NP_006507):
p.Gln37*
cDNA level identifier (NM_006516):
c.109C>T
Gene level identifier:
g.15629C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
1:43408902 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).