Protein level identifier (NP_002134):
p.W103X
cDNA level identifier (NM_002143):
c.308G>A
Gene level identifier:
g.3213G>A
Reference, alternative allele:
G, A
Genomic location hg(19)
1:33354807 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
37
Positive functional evidence:
Number of all included cases:
1 homozygous (1 in total).