NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) - Rat Genome Database

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Gene: NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6) Homo sapiens
Analyze
Symbol: NDUFAF6
Name: NADH:ubiquinone oxidoreductase complex assembly factor 6
RGD ID: 1603903
HGNC Page HGNC
Description: Involved in mitochondrial respiratory chain complex I assembly. Localizes to mitochondrial inner membrane and nucleus. Implicated in Fanconi renotubular syndrome 5 and nuclear type mitochondrial complex I deficiency 17.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C8orf38; FRTS5; MC1DN17; MGC40214; NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; phytoene synthase-like; putative phytoene synthase; UPF0551 protein C8orf38, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,895,767 - 95,116,455 (+)EnsemblGRCh38hg38GRCh38
GRCh38894,895,799 - 95,118,496 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,908,027 - 96,130,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36896,106,397 - 96,140,114 (+)NCBINCBI36hg18NCBI36
Celera892,222,445 - 92,256,164 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef891,245,157 - 91,278,920 (+)NCBIHuRef
CHM1_1896,077,465 - 96,111,211 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicarbonate-wasting renal tubular acidosis  (IAGP)
Bicarbonaturia  (IAGP)
Bone pain  (IAGP)
Decreased activity of mitochondrial respiratory chain  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Decreased DLCO  (IAGP)
Decreased plasma carnitine  (IAGP)
Dehydration  (IAGP)
Developmental regression  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Emotional lability  (IAGP)
Emphysema  (IAGP)
Failure to thrive  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Gait disturbance  (IAGP)
Generalized aminoaciduria  (IAGP)
Generalized hypotonia  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Glycosuria  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hypercalciuria  (IAGP)
Hyperchloremic metabolic acidosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertension  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hyperuricosuria  (IAGP)
Hypoglycemia  (IAGP)
Hypokalemia  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypotonia  (IAGP)
Hypouricemia  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased urinary potassium  (IAGP)
Intellectual disability, severe  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Leukodystrophy  (IAGP)
Low-molecular-weight proteinuria  (IAGP)
Lung adenocarcinoma  (IAGP)
Muscle weakness  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Osteomalacia  (IAGP)
Peripheral neuropathy  (IAGP)
Pes planus  (IAGP)
Pigmentary retinopathy  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive spastic paraplegia  (IAGP)
Proteinuria  (IAGP)
Proximal renal tubular acidosis  (IAGP)
Ptosis  (IAGP)
Pulmonary fibrosis  (IAGP)
Renal phosphate wasting  (IAGP)
Renal sodium wasting  (IAGP)
Rigidity  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Weight loss  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:15146197   PMID:15342556   PMID:16341674   PMID:16344560   PMID:18614015   PMID:19463981   PMID:20552642   PMID:20877624   PMID:21873635   PMID:22019594   PMID:23509070  
PMID:24162737   PMID:26425749   PMID:27466185   PMID:27623250   PMID:28476317   PMID:28514442   PMID:30642748   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
NDUFAF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,895,767 - 95,116,455 (+)EnsemblGRCh38hg38GRCh38
GRCh38894,895,799 - 95,118,496 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,908,027 - 96,130,724 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36896,106,397 - 96,140,114 (+)NCBINCBI36hg18NCBI36
Celera892,222,445 - 92,256,164 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef891,245,157 - 91,278,920 (+)NCBIHuRef
CHM1_1896,077,465 - 96,111,211 (+)NCBICHM1_1
Ndufaf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,048,991 - 11,076,393 (-)NCBIGRCm39mm39
GRCm39 Ensembl411,051,045 - 11,076,205 (-)Ensembl
GRCm38411,048,991 - 11,076,237 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,051,045 - 11,076,205 (-)EnsemblGRCm38mm10GRCm38
MGSCv37410,978,192 - 11,003,351 (-)NCBIGRCm37mm9NCBIm37
MGSCv36410,978,197 - 11,003,352 (-)NCBImm8
Celera410,859,795 - 10,883,714 (-)NCBICelera
Cytogenetic Map4A1NCBI
Ndufaf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2524,147,712 - 24,171,981 (-)NCBI
Rnor_6.0 Ensembl524,297,094 - 24,320,786 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0524,297,169 - 24,320,804 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0529,024,402 - 29,048,285 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4524,893,573 - 24,918,247 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1524,893,533 - 24,918,252 (-)NCBI
Celera523,367,046 - 23,391,235 (-)NCBICelera
Cytogenetic Map5q13NCBI
Ndufaf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541711,150,282 - 11,180,323 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541711,159,449 - 11,180,323 (+)NCBIChiLan1.0ChiLan1.0
NDUFAF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1893,717,602 - 93,936,702 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl893,843,617 - 93,877,475 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0891,514,809 - 91,693,044 (+)NCBIMhudiblu_PPA_v0panPan3
NDUFAF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12939,668,089 - 39,692,479 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2939,668,089 - 39,692,470 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2939,830,526 - 39,854,909 (+)NCBI
ROS_Cfam_1.02939,870,525 - 39,894,885 (+)NCBI
UMICH_Zoey_3.12939,894,249 - 39,918,601 (+)NCBI
UNSW_CanFamBas_1.02939,880,309 - 39,904,788 (+)NCBI
UU_Cfam_GSD_1.02940,322,655 - 40,347,016 (+)NCBI
Ndufaf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530339,784,263 - 39,809,617 (-)NCBI
SpeTri2.0NW_0049365447,983,093 - 8,008,442 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFAF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl441,622,866 - 41,655,662 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1441,619,480 - 41,655,682 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2444,873,811 - 44,907,566 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFAF6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1889,918,063 - 90,026,705 (+)NCBI
Ndufaf6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247632,375,601 - 2,402,846 (+)NCBI

Position Markers
RH99063  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37896,070,649 - 96,070,769UniSTSGRCh37
Build 36896,139,825 - 96,139,945RGDNCBI36
Celera892,255,875 - 92,255,995RGD
Cytogenetic Map8q22.1UniSTS
HuRef891,278,625 - 91,278,745UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4503
Count of miRNA genes:1059
Interacting mature miRNAs:1299
Transcripts:ENST00000286687, ENST00000396111, ENST00000396113, ENST00000396124, ENST00000454358, ENST00000517976, ENST00000518258, ENST00000518608, ENST00000519136, ENST00000519804, ENST00000520632, ENST00000520757, ENST00000521063, ENST00000521587, ENST00000521840, ENST00000522683, ENST00000523184, ENST00000523337, ENST00000523378, ENST00000542894
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 45 1 128 36 359 36 33 32 73 20 145 210 1 9
Low 2393 2695 1598 588 1325 429 4324 2139 3661 398 1314 1403 173 1 1204 2779 6 2
Below cutoff 295 267 26 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA489642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA625387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY444560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF030925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM755491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP275471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX282282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN344829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA897677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY013350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000396111   ⟹   ENSP00000379417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,958,008 - 95,058,710 (+)Ensembl
RefSeq Acc Id: ENST00000396113   ⟹   ENSP00000379419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,895,813 - 95,058,710 (+)Ensembl
RefSeq Acc Id: ENST00000396124   ⟹   ENSP00000379430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,024,989 - 95,058,710 (+)Ensembl
RefSeq Acc Id: ENST00000454358   ⟹   ENSP00000404060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,068 - 95,057,936 (+)Ensembl
RefSeq Acc Id: ENST00000517976   ⟹   ENSP00000430099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,021 - 95,057,946 (+)Ensembl
RefSeq Acc Id: ENST00000518258   ⟹   ENSP00000428788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,024,994 - 95,057,952 (+)Ensembl
RefSeq Acc Id: ENST00000518608   ⟹   ENSP00000428410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,068 - 95,047,014 (+)Ensembl
RefSeq Acc Id: ENST00000519136   ⟹   ENSP00000429585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,895,837 - 95,047,031 (+)Ensembl
RefSeq Acc Id: ENST00000519804   ⟹   ENSP00000430230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,034,649 - 95,047,054 (+)Ensembl
RefSeq Acc Id: ENST00000520632   ⟹   ENSP00000428666
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,033 - 95,047,035 (+)Ensembl
RefSeq Acc Id: ENST00000520757   ⟹   ENSP00000430311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,068 - 95,076,168 (+)Ensembl
RefSeq Acc Id: ENST00000521063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,100,394 - 95,103,457 (+)Ensembl
RefSeq Acc Id: ENST00000521587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,974,608 - 94,984,184 (+)Ensembl
RefSeq Acc Id: ENST00000521840
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,980,908 - 94,989,348 (+)Ensembl
RefSeq Acc Id: ENST00000522683   ⟹   ENSP00000430991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,066 - 95,036,401 (+)Ensembl
RefSeq Acc Id: ENST00000523184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,048,466 - 95,116,455 (+)Ensembl
RefSeq Acc Id: ENST00000523337   ⟹   ENSP00000429038
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl895,025,006 - 95,047,087 (+)Ensembl
RefSeq Acc Id: ENST00000523378   ⟹   ENSP00000428034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,895,767 - 95,047,090 (+)Ensembl
RefSeq Acc Id: NM_001330582   ⟹   NP_001317511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354514   ⟹   NP_001341443
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354515   ⟹   NP_001341444
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354516   ⟹   NP_001341445
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354517   ⟹   NP_001341446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354518   ⟹   NP_001341447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354519   ⟹   NP_001341448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354521   ⟹   NP_001341450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354522   ⟹   NP_001341451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354524   ⟹   NP_001341453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354525   ⟹   NP_001341454
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354527   ⟹   NP_001341456
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354528   ⟹   NP_001341457
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354529   ⟹   NP_001341458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354530   ⟹   NP_001341459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354531   ⟹   NP_001341460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354532   ⟹   NP_001341461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354533   ⟹   NP_001341462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354534   ⟹   NP_001341463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 95,076,813 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152416   ⟹   NP_689629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
GRCh37896,037,209 - 96,115,685 (+)NCBI
Build 36896,106,397 - 96,140,114 (+)NCBI Archive
Celera892,222,445 - 92,256,164 (+)RGD
HuRef891,245,157 - 91,278,920 (+)NCBI
CHM1_1896,077,465 - 96,111,211 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148903
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148904
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148905
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148906
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,895,799 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148907
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,949,560 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148908
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,949,560 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148909
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,949,560 - 94,989,655 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148910
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148911
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148912
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,058,710 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148913
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,118,496 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148914
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,118,496 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148915
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38895,024,989 - 95,076,813 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001317511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341443 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341444 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341445 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341453 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341454 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341456 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341457 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341458 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341459 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341461 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341463 (Get FASTA)   NCBI Sequence Viewer  
  NP_689629 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH28166 (Get FASTA)   NCBI Sequence Viewer  
  AAS68536 (Get FASTA)   NCBI Sequence Viewer  
  BAG60807 (Get FASTA)   NCBI Sequence Viewer  
  BAG62945 (Get FASTA)   NCBI Sequence Viewer  
  EAW91733 (Get FASTA)   NCBI Sequence Viewer  
  EAW91734 (Get FASTA)   NCBI Sequence Viewer  
  EAW91735 (Get FASTA)   NCBI Sequence Viewer  
  EAW91736 (Get FASTA)   NCBI Sequence Viewer  
  EAW91737 (Get FASTA)   NCBI Sequence Viewer  
  EAW91738 (Get FASTA)   NCBI Sequence Viewer  
  Q330K2 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_689629   ⟸   NM_152416
- Peptide Label: isoform 1 precursor
- UniProtKB: Q330K2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001341463   ⟸   NM_001354534
- Peptide Label: isoform 7
- Sequence:
RefSeq Acc Id: NP_001341443   ⟸   NM_001354514
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001341454   ⟸   NM_001354525
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341453   ⟸   NM_001354524
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341451   ⟸   NM_001354522
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341445   ⟸   NM_001354516
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001341444   ⟸   NM_001354515
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001341457   ⟸   NM_001354528
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341456   ⟸   NM_001354527
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341447   ⟸   NM_001354518
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001341461   ⟸   NM_001354532
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001317511   ⟸   NM_001330582
- Peptide Label: isoform 2
- UniProtKB: Q330K2 (UniProtKB/Swiss-Prot),   A0A075B6P0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341450   ⟸   NM_001354521
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001341448   ⟸   NM_001354519
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001341459   ⟸   NM_001354530
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341462   ⟸   NM_001354533
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341458   ⟸   NM_001354529
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341460   ⟸   NM_001354531
- Peptide Label: isoform 6
- Sequence:
RefSeq Acc Id: NP_001341446   ⟸   NM_001354517
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: ENSP00000430099   ⟸   ENST00000517976
RefSeq Acc Id: ENSP00000428410   ⟸   ENST00000518608
RefSeq Acc Id: ENSP00000428788   ⟸   ENST00000518258
RefSeq Acc Id: ENSP00000429585   ⟸   ENST00000519136
RefSeq Acc Id: ENSP00000430230   ⟸   ENST00000519804
RefSeq Acc Id: ENSP00000404060   ⟸   ENST00000454358
RefSeq Acc Id: ENSP00000430311   ⟸   ENST00000520757
RefSeq Acc Id: ENSP00000428666   ⟸   ENST00000520632
RefSeq Acc Id: ENSP00000430991   ⟸   ENST00000522683
RefSeq Acc Id: ENSP00000428034   ⟸   ENST00000523378
RefSeq Acc Id: ENSP00000429038   ⟸   ENST00000523337
RefSeq Acc Id: ENSP00000379419   ⟸   ENST00000396113
RefSeq Acc Id: ENSP00000379417   ⟸   ENST00000396111
RefSeq Acc Id: ENSP00000379430   ⟸   ENST00000396124

Promoters
RGD ID:6806533
Promoter ID:HG_KWN:61742
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_152416,   UC003YHK.1,   UC003YHL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36896,106,164 - 96,106,664 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000000577] Chr8:95032093 [GRCh38]
Chr8:96044321 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.326T>C (p.Ile109Thr) single nucleotide variant not provided [RCV000520311] Chr8:95035482 [GRCh38]
Chr8:96047710 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.121_122GT[3] (p.Ser42fs) microsatellite not provided [RCV000522822] Chr8:95025128..95025129 [GRCh38]
Chr8:96037356..96037357 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.581-4A>T single nucleotide variant not provided [RCV000676861]|not specified [RCV000124056] Chr8:95046990 [GRCh38]
Chr8:96059218 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.642C>T (p.Val214=) single nucleotide variant not provided [RCV000885657]|not specified [RCV000124057] Chr8:95047055 [GRCh38]
Chr8:96059283 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) single nucleotide variant not provided [RCV000676862]|not specified [RCV000124058] Chr8:95047076 [GRCh38]
Chr8:96059304 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000988097]|not provided [RCV000443399]|not specified [RCV000124059] Chr8:95052195 [GRCh38]
Chr8:96064423 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_152416.4(NDUFAF6):c.852A>C (p.Ala284=) single nucleotide variant not provided [RCV000968627]|not specified [RCV000124060] Chr8:95052209 [GRCh38]
Chr8:96064437 [GRCh37]
Chr8:8q22.1
benign
NM_001354514.2(NDUFAF6):c.-83-7017G>T single nucleotide variant not specified [RCV000124061] Chr8:95024978 [GRCh38]
Chr8:96037206 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=) single nucleotide variant not provided [RCV000676857]|not specified [RCV000124062] Chr8:95025059 [GRCh38]
Chr8:96037287 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_152416.4(NDUFAF6):c.225C>T (p.Cys75=) single nucleotide variant not provided [RCV000879130]|not specified [RCV000124063] Chr8:95032022 [GRCh38]
Chr8:96044250 [GRCh37]
Chr8:8q22.1
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:94283890-94959597)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|See cases [RCV000053675] Chr8:94283890..94959597 [GRCh38]
Chr8:95296118..95971825 [GRCh37]
Chr8:95365294..96041001 [NCBI36]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.738T>C (p.Phe246=) single nucleotide variant not provided [RCV000915844]|not specified [RCV000194989] Chr8:95048480 [GRCh38]
Chr8:96060708 [GRCh37]
Chr8:8q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152416.4(NDUFAF6):c.816+18dup duplication not specified [RCV000196660] Chr8:95048568..95048569 [GRCh38]
Chr8:96060796..96060797 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.371T>C (p.Ile124Thr) single nucleotide variant Leigh syndrome [RCV001004883]|Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412555]|not specified [RCV000200495] Chr8:95035527 [GRCh38]
Chr8:96047755 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|uncertain significance
NM_152416.4(NDUFAF6):c.223_232TGCTCCCTGC[3] (p.Glu82fs) microsatellite not provided [RCV000200694] Chr8:95032019..95032020 [GRCh38]
Chr8:96044247..96044248 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_152416.4(NDUFAF6):c.307_308del (p.Val104fs) deletion not provided [RCV000196917] Chr8:95035462..95035463 [GRCh38]
Chr8:96047690..96047691 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_152416.4(NDUFAF6):c.808C>G (p.Leu270Val) single nucleotide variant not provided [RCV000197037] Chr8:95048550 [GRCh38]
Chr8:96060778 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.421-15del deletion not specified [RCV000197664] Chr8:95041555 [GRCh38]
Chr8:96053783 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.896A>C (p.Lys299Thr) single nucleotide variant not specified [RCV000198545] Chr8:95057831 [GRCh38]
Chr8:96070059 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.139G>A (p.Ala47Thr) single nucleotide variant not specified [RCV000198689] Chr8:95025147 [GRCh38]
Chr8:96037375 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.420+2dup duplication not provided [RCV000198813] Chr8:95035577..95035578 [GRCh38]
Chr8:96047805..96047806 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.3(NDUFAF6):c.319A>C (p.Lys107Gln) single nucleotide variant not specified [RCV000195867] Chr8:95035475 [GRCh38]
Chr8:96047703 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.421-14del deletion not specified [RCV000199554] Chr8:95041556 [GRCh38]
Chr8:96053784 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.83G>C (p.Gly28Ala) single nucleotide variant not provided [RCV000424427] Chr8:95025091 [GRCh38]
Chr8:96037319 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_152416.4(NDUFAF6):c.992A>G (p.Lys331Arg) single nucleotide variant not specified [RCV000199672] Chr8:95057927 [GRCh38]
Chr8:96070155 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) single nucleotide variant Leigh syndrome [RCV000626222]|not specified [RCV001169861] Chr8:95048461 [GRCh38]
Chr8:96060689 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_152416.4(NDUFAF6):c.715-3C>A single nucleotide variant Leigh syndrome [RCV001335475]|not provided [RCV000369263] Chr8:95048454 [GRCh38]
Chr8:96060682 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000489340] Chr8:95025010 [GRCh38]
Chr8:96037238 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.561C>G (p.Tyr187Ter) single nucleotide variant not provided [RCV000489617] Chr8:95045628 [GRCh38]
Chr8:96057856 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.773T>C (p.Val258Ala) single nucleotide variant Leigh syndrome [RCV001335476]|not provided [RCV000521809] Chr8:95048515 [GRCh38]
Chr8:96060743 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.63C>T (p.Cys21=) single nucleotide variant not specified [RCV000603917] Chr8:95025071 [GRCh38]
Chr8:96037299 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.559_563del (p.Tyr187fs) deletion not provided [RCV000598990] Chr8:95045623..95045627 [GRCh38]
Chr8:96057851..96057855 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.383A>G (p.Asn128Ser) single nucleotide variant not provided [RCV000592847] Chr8:95035539 [GRCh38]
Chr8:96047767 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.226T>C (p.Ser76Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412495] Chr8:95032023 [GRCh38]
Chr8:96044251 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.206A>T (p.Asp69Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412636] Chr8:95032003 [GRCh38]
Chr8:96044231 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.97A>G (p.Met33Val) single nucleotide variant not provided [RCV000732985] Chr8:95025105 [GRCh38]
Chr8:96037333 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.690C>G (p.Phe230Leu) single nucleotide variant not provided [RCV000733056] Chr8:95047103 [GRCh38]
Chr8:96059331 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412564] Chr8:95045599 [GRCh38]
Chr8:96057827 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.805C>G (p.His269Asp) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412599] Chr8:95048547 [GRCh38]
Chr8:96060775 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV000412485] Chr8:95052177 [GRCh38]
Chr8:96064405 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_152416.4(NDUFAF6):c.478-4G>T single nucleotide variant not provided [RCV000977903]|not specified [RCV000438248] Chr8:95045541 [GRCh38]
Chr8:96057769 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.220T>C (p.Leu74=) single nucleotide variant not specified [RCV000438457] Chr8:95032017 [GRCh38]
Chr8:96044245 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.197+18T>G single nucleotide variant not specified [RCV000418329] Chr8:95025223 [GRCh38]
Chr8:96037451 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.37T>C (p.Leu13=) single nucleotide variant not specified [RCV000443269] Chr8:95025045 [GRCh38]
Chr8:96037273 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.222A>G (p.Leu74=) single nucleotide variant not provided [RCV000883859]|not specified [RCV000439726] Chr8:95032019 [GRCh38]
Chr8:96044247 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001354514.2(NDUFAF6):c.-83-7011T>C single nucleotide variant not specified [RCV000439795] Chr8:95024984 [GRCh38]
Chr8:96037212 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.600del (p.Asp201fs) deletion not provided [RCV000479630] Chr8:95047013 [GRCh38]
Chr8:96059241 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_152416.4(NDUFAF6):c.557_559del (p.Leu186_Tyr187delinsHis) deletion Developmental regression [RCV000626999] Chr8:95045624..95045626 [GRCh38]
Chr8:96057852..96057854 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.841C>G (p.Pro281Ala) single nucleotide variant Developmental regression [RCV000627000] Chr8:95052198 [GRCh38]
Chr8:96064426 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.690C>T (p.Phe230=) single nucleotide variant not specified [RCV000612401] Chr8:95047103 [GRCh38]
Chr8:96059331 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.421-13_421-12del microsatellite not specified [RCV000615960] Chr8:95041555..95041556 [GRCh38]
Chr8:96053783..96053784 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.297+16C>A single nucleotide variant not specified [RCV000610280] Chr8:95032110 [GRCh38]
Chr8:96044338 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.485dup (p.Asn162fs) duplication Inborn genetic diseases [RCV000622782] Chr8:95045545..95045546 [GRCh38]
Chr8:96057773..96057774 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.421-20T>C single nucleotide variant not specified [RCV000614634] Chr8:95041550 [GRCh38]
Chr8:96053778 [GRCh37]
Chr8:8q22.1
likely benign
NM_001354514.2(NDUFAF6):c.-83-7035T>G single nucleotide variant not specified [RCV000611950] Chr8:95024960 [GRCh38]
Chr8:96037188 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.-5G>T single nucleotide variant not specified [RCV000605017] Chr8:95025004 [GRCh38]
Chr8:96037232 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_152416.4(NDUFAF6):c.942G>A (p.Gln314=) single nucleotide variant not specified [RCV000606251] Chr8:95057877 [GRCh38]
Chr8:96070105 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.362_364dup (p.Val121dup) duplication Inborn genetic diseases [RCV000624815] Chr8:95035516..95035517 [GRCh38]
Chr8:96047744..96047745 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.420+14_420+15dup duplication not provided [RCV000676859] Chr8:95035578..95035579 [GRCh38]
Chr8:96047806..96047807 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.420+15dup duplication not provided [RCV000676860] Chr8:95035578..95035579 [GRCh38]
Chr8:96047806..96047807 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.665A>G (p.Tyr222Cys) single nucleotide variant not provided [RCV000676863] Chr8:95047078 [GRCh38]
Chr8:96059306 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.116C>T (p.Pro39Leu) single nucleotide variant Leigh syndrome [RCV001335472]|not provided [RCV000676858] Chr8:95025124 [GRCh38]
Chr8:96037352 [GRCh37]
Chr8:8q22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_152416.4(NDUFAF6):c.420+15del deletion not provided [RCV000948343] Chr8:95035579 [GRCh38]
Chr8:96047807 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_152416.4(NDUFAF6):c.198-147G>A single nucleotide variant not provided [RCV000835652] Chr8:95031848 [GRCh38]
Chr8:96044076 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.420+304A>G single nucleotide variant not provided [RCV000841172] Chr8:95035880 [GRCh38]
Chr8:96048108 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.580+343G>A single nucleotide variant not provided [RCV000841054] Chr8:95045990 [GRCh38]
Chr8:96058218 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.298-211_298-210del deletion not provided [RCV000830841] Chr8:95035243..95035244 [GRCh38]
Chr8:96047471..96047472 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.198-181T>C single nucleotide variant not provided [RCV000841087] Chr8:95031814 [GRCh38]
Chr8:96044042 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.298-731A>G single nucleotide variant not provided [RCV000841088] Chr8:95034723 [GRCh38]
Chr8:96046951 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.714+197A>G single nucleotide variant not provided [RCV000841145] Chr8:95047324 [GRCh38]
Chr8:96059552 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.58C>T (p.Leu20=) single nucleotide variant not provided [RCV000841522] Chr8:95025066 [GRCh38]
Chr8:96037294 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.873+97C>T single nucleotide variant not provided [RCV000834836] Chr8:95052327 [GRCh38]
Chr8:96064555 [GRCh37]
Chr8:8q22.1
benign
NM_152416.4(NDUFAF6):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV000914099] Chr8:95025017 [GRCh38]
Chr8:96037245 [GRCh37]
Chr8:8q22.1
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_152416.4(NDUFAF6):c.390A>G (p.Pro130=) single nucleotide variant not provided [RCV000893788] Chr8:95035546 [GRCh38]
Chr8:96047774 [GRCh37]
Chr8:8q22.1
likely benign
NM_152416.4(NDUFAF6):c.420+784C>T single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV001194668] Chr8:95036360 [GRCh38]
Chr8:96048588 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.298-768T>C single nucleotide variant Fanconi renotubular syndrome 5 [RCV001175176] Chr8:95034686 [GRCh38]
Chr8:96046914 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.743G>A (p.Arg248Gln) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 17 [RCV001197656] Chr8:95048485 [GRCh38]
Chr8:96060713 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.337C>T (p.Arg113Ter) single nucleotide variant Leigh syndrome [RCV001249207] Chr8:95035493 [GRCh38]
Chr8:96047721 [GRCh37]
Chr8:8q22.1
pathogenic
NC_000008.11:g.95045545del deletion not provided [RCV001090387] Chr8:95045544 [GRCh38]
Chr8:96057772 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.555_559del (p.Tyr187fs) deletion Mitochondrial complex 1 deficiency, nuclear type 17 [RCV001194669] Chr8:95045621..95045625 [GRCh38]
Chr8:96057849..96057853 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8q22.1(chr8:95803280-97802022)x3 copy number gain not provided [RCV001259019] Chr8:95803280..97802022 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.8C>G (p.Ala3Gly) single nucleotide variant Leigh syndrome [RCV001335477] Chr8:95025016 [GRCh38]
Chr8:96037244 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.420+1_420+2dup duplication Mitochondrial complex 1 deficiency, nuclear type 17 [RCV001330427] Chr8:95035576..95035577 [GRCh38]
Chr8:96047804..96047805 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_152416.4(NDUFAF6):c.92C>G (p.Ala31Gly) single nucleotide variant Leigh syndrome [RCV001337011] Chr8:95025100 [GRCh38]
Chr8:96037328 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_152416.4(NDUFAF6):c.29G>A (p.Trp10Ter) single nucleotide variant Leigh syndrome [RCV001335473] Chr8:95025037 [GRCh38]
Chr8:96037265 [GRCh37]
Chr8:8q22.1
pathogenic
NM_152416.4(NDUFAF6):c.328G>T (p.Gly110Ter) single nucleotide variant Leigh syndrome [RCV001335474] Chr8:95035484 [GRCh38]
Chr8:96047712 [GRCh37]
Chr8:8q22.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28625 AgrOrtholog
COSMIC NDUFAF6 COSMIC
Ensembl Genes ENSG00000156170 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000379417 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000379419 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000379430 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404060 UniProtKB/TrEMBL
  ENSP00000428034 UniProtKB/TrEMBL
  ENSP00000428410 UniProtKB/TrEMBL
  ENSP00000428666 UniProtKB/TrEMBL
  ENSP00000428788 UniProtKB/Swiss-Prot
  ENSP00000429038 UniProtKB/Swiss-Prot
  ENSP00000429585 UniProtKB/TrEMBL
  ENSP00000430099 UniProtKB/TrEMBL
  ENSP00000430230 UniProtKB/TrEMBL
  ENSP00000430311 UniProtKB/TrEMBL
  ENSP00000430991 UniProtKB/TrEMBL
Ensembl Transcript ENST00000396111 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000396113 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000396124 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000454358 UniProtKB/TrEMBL
  ENST00000517976 UniProtKB/TrEMBL
  ENST00000518258 UniProtKB/Swiss-Prot
  ENST00000518608 UniProtKB/TrEMBL
  ENST00000519136 UniProtKB/TrEMBL
  ENST00000519804 UniProtKB/TrEMBL
  ENST00000520632 UniProtKB/TrEMBL
  ENST00000520757 UniProtKB/TrEMBL
  ENST00000522683 UniProtKB/TrEMBL
  ENST00000523337 UniProtKB/Swiss-Prot
  ENST00000523378 UniProtKB/TrEMBL
Gene3D-CATH 1.10.600.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156170 GTEx
HGNC ID HGNC:28625 ENTREZGENE
Human Proteome Map NDUFAF6 Human Proteome Map
InterPro Isoprenoid_synthase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:137682 UniProtKB/Swiss-Prot
NCBI Gene 137682 ENTREZGENE
OMIM 612392 OMIM
  618239 OMIM
  618913 OMIM
PharmGKB PA142672357 PharmGKB
Superfamily-SCOP SSF48576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6P0 ENTREZGENE, UniProtKB/TrEMBL
  E5RFN5_HUMAN UniProtKB/TrEMBL
  E5RGD6_HUMAN UniProtKB/TrEMBL
  E5RHX9_HUMAN UniProtKB/TrEMBL
  H0YB05_HUMAN UniProtKB/TrEMBL
  H0YB46_HUMAN UniProtKB/TrEMBL
  H0YBQ9_HUMAN UniProtKB/TrEMBL
  H0YBT9_HUMAN UniProtKB/TrEMBL
  H0YC61_HUMAN UniProtKB/TrEMBL
  H7C250_HUMAN UniProtKB/TrEMBL
  NDUF6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8MT28 UniProtKB/Swiss-Prot
  A8MWF0 UniProtKB/Swiss-Prot
  B4DQ45 UniProtKB/Swiss-Prot
  Q8N6U6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 NDUFAF6  NADH:ubiquinone oxidoreductase complex assembly factor 6  NDUFAF6  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6  Symbol and/or name change 5135510 APPROVED
2012-06-27 NDUFAF6  NADH dehydrogenase (ubiquinone) complex I, assembly factor 6  C8orf38  chromosome 8 open reading frame 38  Symbol and/or name change 5135510 APPROVED