Protein level identifier (n.a.):
p.Ala392Leufs*4
cDNA level identifier (n.a.):
c.1174delG
Gene level identifier:
g.64798delG
Reference, alternative allele:
GG, 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:
5 heterozygous (5 in total).