MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
NDUFAF6 (NADH dehydrogenase (ubiquinone) complex I,...)
LOVD v.3.0 Build 21 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Lishuang Shen
View all genes
View NDUFAF6 gene homepage
View graphs about the NDUFAF6 gene database
View all transcripts
View all transcripts of gene NDUFAF6
View all genomic variants
View all variants affecting transcripts
View unique variants in gene NDUFAF6
View all variants in gene NDUFAF6
Full data view for gene NDUFAF6
View all individuals
View all individuals with variants in gene NDUFAF6
View all diseases
View all diseases associated with gene NDUFAF6
View all screenings
View all screenings for gene NDUFAF6
Submit new data
NDUFAF6 gene homepage
MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol
NDUFAF6
Gene name
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Chromosome
8
Chromosomal band
q22.1
Imprinted
Unknown
Genomic reference
NC_000008.10
Transcript reference
NM_152416.3
,
XM_005250788.1
,
XM_005250789.1
,
XM_005250790.1
,
XM_005250791.1
,
XM_005250792.1
,
XM_005250793.1
Associated with diseases
618239
Citation reference(s)
-
Curators (1)
Lishuang Shen
Total number of public variants reported
11
Unique public DNA variants reported
10
Individuals with public variants
0
Hidden variants
0
Download all this gene's data
Download all data
Notes
MSeqDR-LSDB
Date created
November 13, 2013
Graphical displays and utilities
Graphs
Graphs displaying summary information of all variants in the database
»
UCSC Genome Browser
Show variants in the UCSC Genome Browser (
full view
,
compact view
)
Ensembl Genome Browser
Show variants in the Ensembl Genome Browser (
full view
,
compact view
)
NCBI Sequence Viewer
Show distribution histogram of variants in the
NCBI Sequence Viewer
Links to other resources
HGNC
28625
Entrez Gene
137682
PubMed articles
NDUFAF6
OMIM - Gene
612392
OMIM - Diseases
618239 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17)
HGMD
NDUFAF6
GeneCards
NDUFAF6
GeneTests
NDUFAF6
Active transcripts
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID
Chr
Name
NCBI ID
NCBI Protein ID
Variants
00001309
8
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NM_152416.3
NP_689629.2
11
00001310
8
transcript variant X1
XM_005250788.1
XP_005250845.1
11
00001311
8
transcript variant X2
XM_005250789.1
XP_005250846.1
11
00001312
8
transcript variant X3
XM_005250790.1
XP_005250847.1
11
00001313
8
transcript variant X4
XM_005250791.1
XP_005250848.1
11
00001314
8
transcript variant X5
XM_005250792.1
XP_005250849.1
11
00001315
8
transcript variant X6
XM_005250793.1
XP_005250850.1
11
Copyright & disclaimer
Sources: GeneDX http://www.genedx.com
Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium
Powered by
LOVD v.3.0
Build 21
LOVD software ©2004-2018
Leiden University Medical Center