Protein level identifier (n.a.):
p.Thr287del
cDNA level identifier (n.a.):
c.857_859delCTA
Gene level identifier:
g.51202_51204delCTA
Reference, alternative allele:
CCTA, C
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Possibly pathogenic
CADD score:
18
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).