Protein level identifier (NP_075063):
p.Trp42*
cDNA level identifier (NM_022912):
c.125G>A
Gene level identifier:
g.74062G>A
Reference, alternative allele:
C, T
Genomic location hg(19)
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).