Protein level identifier (n.a.):
p.Glu418del
cDNA level identifier (n.a.):
c.1253_1255delAAG
Gene level identifier:
g.72960_72962delAAG
Reference, alternative allele:
GAAG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).