Protein level identifier (n.a.):
p.Tyr415*
cDNA level identifier (n.a.):
c.1243_1244insA
Gene level identifier:
g.64867_64868insA
Reference, alternative allele:
T, TA
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:
4 heterozygous (4 in total).