Protein level identifier (n.a.):
p.Met329*
cDNA level identifier (n.a.):
c.983_984dupTA
Gene level identifier:
g.52204_52205dupTA
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).