Protein level identifier (n.a.):
p.Tyr415*
cDNA level identifier (n.a.):
c.1245delC
Gene level identifier:
g.64869delC
Reference, alternative allele:
AC, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).