Protein level identifier (n.a.):
p.Gln141Argfs*19
cDNA level identifier (n.a.):
c.422_425delAGAA
Gene level identifier:
g.23888_23891delAGAA
Reference, alternative allele:
CAGAA, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).