Protein level identifier (n.a.):
p.Lys151Valfs*9
cDNA level identifier (n.a.):
c.451_454delAAAG
Gene level identifier:
g.23917_23920delAAAG
Reference, alternative allele:
GAAAG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).