Gene: NDUFS4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776949
rs587776949
NDUFS4
C 0.700 CausalMutation CLINVAR Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637

2014
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs587776949
rs587776949
NDUFS4
C 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs587776949
rs587776949
NDUFS4
C 0.700 CausalMutation CLINVAR NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667

2009
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2008
dbSNP: rs587776949
rs587776949
NDUFS4
C 0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2008
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398

2003
dbSNP: rs1554059248
rs1554059248
NDUFS4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554062427
rs1554062427
NDUFS4
T 0.700 CausalMutation CLINVAR