Protein level identifier (n.a.):
p.Asp313Argfs*6
cDNA level identifier (n.a.):
c.936dupA
Gene level identifier:
g.52157dupA
Reference, alternative allele:
A, AA
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).