Protein level identifier (NP_060575):
p.Gln97*
cDNA level identifier (NM_018105):
c.289C>T
Gene level identifier:
g.5011C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
8:42693458 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
7 heterozygous (7 in total).