Protein level identifier (n.a.):
p.Trp1036*
cDNA level identifier (n.a.):
c.3107G>A
Gene level identifier:
g.45732G>A
Reference, alternative allele:
C, T
Genomic location hg(0)
3:148894111 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
42
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).