Protein level identifier (n.a.):
p.Phe404del
cDNA level identifier (n.a.):
c.1209_1211delCTT
Gene level identifier:
g.64833_64835delCTT
Reference, alternative allele:
TCTT, T
Genomic location
not available
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
21
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).