CCNF, cyclin F, 899

N. diseases: 43; N. variants: 4
Disease: Frontotemporal dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778264897
rs778264897
Entrez Id: 899
Gene Symbol: CCNF
CCNF
CUI: C0338451
Disease:
Frontotemporal dementia 		0.020 GeneticVariation BEFREE In this study, we examined the ALS/FTD-causing p.Ser621Gly (p.S621G) mutation in cyclin F and its effect upon downstream Lys48-specific ubiquitylation in transfected Neuro-2A and SH-SY5Y cells. 28852778 2018
dbSNP: rs778264897
rs778264897
Entrez Id: 899
Gene Symbol: CCNF
CCNF
CUI: C0338451
Disease:
Frontotemporal dementia 		0.020 GeneticVariation BEFREE This specific mutation (S621G) was found in a multi-generational Australian family with ALS/FTD. 29021214 2017
dbSNP: rs148159882
rs148159882
Entrez Id: 899
Gene Symbol: CCNF
CCNF
CUI: C0338451
Disease:
Frontotemporal dementia 		0.010 GeneticVariation BEFREE A rare heterozygous variant (c.481G > A, p.G161R) was detected in a sporadic ALS case with a frequency of 0.6%, while no mutation was identified in patients with FTD. 28281833 2017