Protein level identifier (n.a.):
p.Ala396Leufs*11
cDNA level identifier (n.a.):
c.1185delA
Gene level identifier:
g.64809delA
Reference, alternative allele:
TA, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).