NUP155, nucleoporin 155, 9631

N. diseases: 13; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777339
rs587777339
Entrez Id: 9631
Gene Symbol: NUP155
NUP155
CUI: C4014269
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 15
0.800 GeneticVariation UNIPROT Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. 19070573 2008
dbSNP: rs587777339
rs587777339
Entrez Id: 9631
Gene Symbol: NUP155
NUP155
CUI: C4014269
Disease:
ATRIAL FIBRILLATION, FAMILIAL, 15
T 0.800 CausalMutation CLINVAR
dbSNP: rs587777339
rs587777339
Entrez Id: 9631
Gene Symbol: NUP155
NUP155
CUI: C0004238
Disease:
Atrial Fibrillation
0.010 GeneticVariation BEFREE We have identified a homozygous mutation, R391H, in NUP155 that cosegregates with AF, affects nuclear localization of NUP155, and reduces nuclear envelope permeability. 19070573 2008