Protein level identifier (n.a.):
p.Ala428Cysfs*15
cDNA level identifier (n.a.):
c.1281dupT
Gene level identifier:
g.72988dupT
Reference, alternative allele:
T, TT
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).