Protein level identifier (NP_065753):
p.Trp75*
cDNA level identifier (NM_020702):
c.225G>A
Gene level identifier:
g.4135G>A
Archive identifier/Other designation:
p.W75*
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 homozygous, 1 compound heterozygous (3 in total).