Protein level identifier (n.a.):
p.Ile592*
cDNA level identifier (n.a.):
c.1774delA
Gene level identifier:
g.90809delA
Reference, alternative allele:
AA, A
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:
2 heterozygous (2 in total).