Protein level identifier (n.a.):
p.Gly291Alafs*24
cDNA level identifier (n.a.):
c.872_875delinsCCA
Gene level identifier:
g.52093_52096delinsCCA
Reference, alternative allele:
GGTAC, GCCA
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).