CTSF, cathepsin F, 8722

N. diseases: 33; N. variants: 12
Disease: Adult Neuronal Ceroid Lipofuscinosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765758974
rs765758974
Entrez Id: 8722
Gene Symbol: CTSF
CTSF
CUI: C0022797
Disease:
Adult Neuronal Ceroid Lipofuscinosis 		0.010 GeneticVariation BEFREE Here, we report a sporadic case of Kufs disease type B with novel compound heterozygous mutations, a novel missense mutation c.977G>T (p.C326F) and a novel nonsense mutation c.416C>A (p.S139X), in the cathepsin-F gene. 29120254 2018