Protein level identifier (n.a.):
p.Lys151Argfs*3
cDNA level identifier (n.a.):
c.450_451delGA
Gene level identifier:
g.23916_23917delGA
Reference, alternative allele:
AGA, A
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).