Protein level identifier (n.a.):
p.Arg488Ilefs*43
cDNA level identifier (n.a.):
c.1461_1462dupTA
Gene level identifier:
g.73546_73547dupTA
Reference, alternative allele:
A, ATA
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Possibly pathogenic
CADD score:
35
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).