Protein level identifier (n.a.):
p.Pro105Glyfs*28
cDNA level identifier (n.a.):
c.313_320delCCGGCGCC
Gene level identifier:
g.534_541delCCGGCGCC
Reference, alternative allele:
CCCGGCGCC, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).