Protein level identifier (n.a.):
p.Glu157Lysfs*4
cDNA level identifier (n.a.):
c.469delG
Gene level identifier:
g.23935delG
Reference, alternative allele:
GG, G
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).