Protein level identifier (n.a.):
p.Ser53*
cDNA level identifier (n.a.):
c.158C>G
Gene level identifier:
g.26417C>G
Reference, alternative allele:
G, C
Genomic location hg(19)
Gene name:
Consequence:
frameshift deletion
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).