Protein level identifier (n.a.):
p.Gln280Argfs*10
cDNA level identifier (n.a.):
c.839_840delAG
Gene level identifier:
g.51184_51185delAG
Reference, alternative allele:
CAG, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).