Protein level identifier (n.a.):
p.Gly476Argfs*2
cDNA level identifier (n.a.):
c.1426_1427delGG
Gene level identifier:
g.73511_73512delGG
Reference, alternative allele:
TGG, 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).