Protein level identifier (n.a.):
p.Arg191Alafs*5
cDNA level identifier (n.a.):
c.571delC
Gene level identifier:
g.25980delC
Reference, alternative allele:
CC, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).