Protein level identifier (n.a.):
p.Glu452Argfs*6
cDNA level identifier (n.a.):
c.1350_1351delAA
Gene level identifier:
g.73295_73296delAA
Reference, alternative allele:
GAA, 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).