Protein level identifier (n.a.):
p.Glu398Tyrfs*10
cDNA level identifier (n.a.):
c.1192_1193delinsT
Gene level identifier:
g.64816_64817delinsT
Reference, alternative allele:
AGA, AT
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).