Protein level identifier (NP_075063):
p.Tyr66*
cDNA level identifier (NM_022912):
c.198T>G
Gene level identifier:
g.83285T>G
Reference, alternative allele:
A, C
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:
2 heterozygous (2 in total).