Protein level identifier (n.a.):
p.Ile256Asnfs*3
cDNA level identifier (n.a.):
c.766_767delAT
Gene level identifier:
g.52861_52862delAT
Reference, alternative allele:
TAT, T
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).