Protein level identifier (n.a.):
p.Phe439Leufs*2
cDNA level identifier (n.a.):
c.1317delT
Gene level identifier:
g.73024delT
Reference, alternative allele:
TT, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).