Protein level identifier (n.a.):
p.Glu452Glyfs*5
cDNA level identifier (n.a.):
c.1353_1357delAGAAG
Gene level identifier:
g.73298_73302delAGAAG
Reference, alternative allele:
GAGAAG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).