Protein level identifier (n.a.):
p.Arg235Lysfs*9
cDNA level identifier (n.a.):
c.703dupA
Gene level identifier:
g.51048dupA
Reference, alternative allele:
A, AA
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
33
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).