Protein level identifier (n.a.):
p.Ala551Phefs*25
cDNA level identifier (n.a.):
c.1650_1651delAG
Gene level identifier:
g.81360_81361delAG
Reference, alternative allele:
CAG, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).