Protein level identifier (n.a.):
p.Asn184*
cDNA level identifier (n.a.):
c.549dupT
Gene level identifier:
g.25958dupT
Reference, alternative allele:
T, TT
Genomic location
not available
Gene name:
Consequence:
structural variation
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).