Protein level identifier (n.a.):
p.Pro31Serfs*18
cDNA level identifier (n.a.):
c.90_91insAGCC
Gene level identifier:
g.311_312insAGCC
Reference, alternative allele:
C, CAGCC
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
22
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).