Protein level identifier (n.a.):
p.Asn326Lysfs*6
cDNA level identifier (n.a.):
c.977dupA
Gene level identifier:
g.52198dupA
Reference, alternative allele:
A, AA
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).