NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) - Rat Genome Database

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Gene: NDUFAF5 (NADH:ubiquinone oxidoreductase complex assembly factor 5) Homo sapiens
Analyze
Symbol: NDUFAF5
Name: NADH:ubiquinone oxidoreductase complex assembly factor 5
RGD ID: 1603963
HGNC Page HGNC
Description: Predicted to enable methyltransferase activity and oxidoreductase activity. Involved in mitochondrial respiratory chain complex I assembly and peptidyl-arginine hydroxylation. Located in mitochondrion. Is extrinsic component of mitochondrial inner membrane. Implicated in nuclear type mitochondrial complex I deficiency 16.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: arginine-hydroxylase NDUFAF5, mitochondrial; bA526K24.2; C20orf7; dJ842G6.1; FLJ22324; MC1DN16; MGC90272; NADH dehydrogenase (ubiquinone) complex I, assembly factor 5; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5; probable methyltransferase C20orf7, mitochondrial; putative methyltransferase NDUFAF5
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 Ensembl2013,785,007 - 13,821,580 (+)EnsemblGRCh38hg38GRCh38
GRCh382013,785,026 - 13,821,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372013,765,674 - 13,802,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362013,713,682 - 13,745,874 (+)NCBINCBI36hg18NCBI36
Celera2013,835,718 - 13,869,123 (+)NCBI
Cytogenetic Map20p12.1NCBI
HuRef2013,720,309 - 13,753,711 (+)NCBIHuRef
CHM1_12013,765,617 - 13,799,023 (+)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
Abnormal mitochondria in muscle tissue  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Choreoathetosis  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial respiratory chain  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Diabetes mellitus  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
Emotional lability  (IAGP)
Encephalopathy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense brainstem lesion  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hyperreflexia  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Lactic acidosis  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Microcephaly  (IAGP)
Mitochondrial myopathy  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Optic neuropathy  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor eye contact  (IAGP)
Poor head control  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive spastic paraplegia  (IAGP)
Proximal tubulopathy  (IAGP)
Ptosis  (IAGP)
Respiratory insufficiency  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Ventricular septal defect  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15146197   PMID:16344560   PMID:16712791   PMID:17207965   PMID:18940309   PMID:19542079   PMID:20379614   PMID:21607760   PMID:21873635   PMID:24344204  
PMID:26186194   PMID:26425749   PMID:27226634   PMID:27499296   PMID:28162770   PMID:28380382   PMID:28514442   PMID:29229926   PMID:29395067   PMID:29568061   PMID:30473481   PMID:31056398  
PMID:31617661   PMID:32694731   PMID:32877691   PMID:34079125  


Genomics

Comparative Map Data
NDUFAF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2013,785,007 - 13,821,580 (+)EnsemblGRCh38hg38GRCh38
GRCh382013,785,026 - 13,821,580 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372013,765,674 - 13,802,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362013,713,682 - 13,745,874 (+)NCBINCBI36hg18NCBI36
Celera2013,835,718 - 13,869,123 (+)NCBI
Cytogenetic Map20p12.1NCBI
HuRef2013,720,309 - 13,753,711 (+)NCBIHuRef
CHM1_12013,765,617 - 13,799,023 (+)NCBICHM1_1
Ndufaf5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392140,012,504 - 140,047,172 (+)NCBIGRCm39mm39
GRCm39 Ensembl2140,012,569 - 140,045,609 (+)Ensembl
GRCm382140,170,584 - 140,218,965 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2140,170,649 - 140,203,689 (+)EnsemblGRCm38mm10GRCm38
MGSCv372139,996,382 - 140,030,988 (+)NCBIGRCm37mm9NCBIm37
MGSCv362139,862,471 - 139,895,073 (+)NCBImm8
Celera2141,356,217 - 141,391,065 (+)NCBICelera
Cytogenetic Map2F3NCBI
Ndufaf5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23127,507,931 - 127,537,477 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl3133,232,432 - 133,261,973 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03133,232,412 - 133,261,932 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03139,688,300 - 139,717,717 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43128,353,866 - 128,384,213 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13128,259,473 - 128,289,786 (+)NCBI
Celera3126,154,809 - 126,184,287 (+)NCBICelera
Cytogenetic Map3q41NCBI
Ndufaf5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541523,221,084 - 23,262,073 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541523,221,084 - 23,263,548 (+)NCBIChiLan1.0ChiLan1.0
NDUFAF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12013,735,768 - 13,769,147 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2013,735,798 - 13,768,671 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02013,751,315 - 13,788,024 (+)NCBIMhudiblu_PPA_v0panPan3
NDUFAF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1248,810,682 - 8,873,212 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl248,837,253 - 8,873,176 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha248,621,611 - 8,684,816 (-)NCBI
ROS_Cfam_1.0249,249,725 - 9,285,751 (-)NCBI
UMICH_Zoey_3.1248,822,205 - 8,885,310 (-)NCBI
UNSW_CanFamBas_1.0248,918,663 - 8,981,572 (-)NCBI
UU_Cfam_GSD_1.0249,267,158 - 9,330,256 (-)NCBI
Ndufaf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640157,563,024 - 157,593,648 (-)NCBI
SpeTri2.0NW_0049364855,994,388 - 6,025,042 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NDUFAF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1722,480,340 - 22,511,180 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11722,480,344 - 22,508,804 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21725,160,198 - 25,188,788 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NDUFAF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1242,670,613 - 42,706,341 (+)NCBI
ChlSab1.1 Ensembl242,670,421 - 42,711,024 (+)Ensembl
Vero_WHO_p1.0NW_0236660542,946,890 - 2,982,616 (+)NCBI
Ndufaf5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474114,778,126 - 14,824,079 (+)NCBI

Position Markers
SGC38153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372013,789,153 - 13,789,410UniSTSGRCh37
Build 362013,737,153 - 13,737,410RGDNCBI36
Celera2013,859,199 - 13,859,456RGD
Cytogenetic Map20p12.1UniSTS
HuRef2013,743,787 - 13,744,044UniSTS
GeneMap99-GB4 RH Map2077.38UniSTS
Whitehead-RH Map2081.3UniSTS
RH45884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372013,789,413 - 13,789,537UniSTSGRCh37
Build 362013,737,413 - 13,737,537RGDNCBI36
Celera2013,859,459 - 13,859,583RGD
Cytogenetic Map20p12.1UniSTS
HuRef2013,744,047 - 13,744,171UniSTS
GeneMap99-GB4 RH Map2075.95UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2158
Count of miRNA genes:821
Interacting mature miRNAs:957
Transcripts:ENST00000378081, ENST00000378106, ENST00000463598, ENST00000464269, ENST00000469177, ENST00000475968, ENST00000476124, ENST00000476200, ENST00000476536, ENST00000477732, ENST00000479682, ENST00000479716, ENST00000481249, ENST00000485738, ENST00000486772, ENST00000487478
Prediction methods: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 78 27 41 34 100 33 94 31 402 80 150 91 6 1 2 58 1 1
Low 2361 2703 1685 589 1614 432 4263 2142 3331 339 1310 1522 168 1202 2730 5
Below cutoff 261 237 24 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001352408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_029377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_937140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA252680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA789132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB156360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN256713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA289766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000378081   ⟹   ENSP00000437325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,007 - 13,818,421 (+)Ensembl
RefSeq Acc Id: ENST00000378106   ⟹   ENSP00000367346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,028 - 13,821,580 (+)Ensembl
RefSeq Acc Id: ENST00000463598   ⟹   ENSP00000420497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,050 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000464269
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,793,180 - 13,809,001 (+)Ensembl
RefSeq Acc Id: ENST00000469177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,787,152 - 13,794,850 (+)Ensembl
RefSeq Acc Id: ENST00000475968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,088 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000476124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,801,568 - 13,803,421 (+)Ensembl
RefSeq Acc Id: ENST00000476200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,814,077 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000476536
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,787,150 - 13,812,995 (+)Ensembl
RefSeq Acc Id: ENST00000477732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,086 - 13,808,891 (+)Ensembl
RefSeq Acc Id: ENST00000479682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,816,065 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000479716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,798,461 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000481249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,088 - 13,814,438 (+)Ensembl
RefSeq Acc Id: ENST00000485738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,785,070 - 13,808,865 (+)Ensembl
RefSeq Acc Id: ENST00000486772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,816,658 - 13,817,228 (+)Ensembl
RefSeq Acc Id: ENST00000487478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2013,801,543 - 13,817,228 (+)Ensembl
RefSeq Acc Id: NM_001039375   ⟹   NP_001034464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Build 362013,713,682 - 13,745,874 (+)NCBI Archive
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352403   ⟹   NP_001339332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352406   ⟹   NP_001339335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352407   ⟹   NP_001339336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352408   ⟹   NP_001339337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,803,416 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024120   ⟹   NP_077025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Build 362013,713,682 - 13,745,874 (+)NCBI Archive
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
Sequence:
RefSeq Acc Id: NR_029377
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
GRCh372013,765,672 - 13,799,067 (+)RGD
Celera2013,835,718 - 13,869,123 (+)RGD
HuRef2013,720,309 - 13,753,711 (+)RGD
CHM1_12013,765,617 - 13,799,023 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147978
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147979
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147980
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147981
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147982
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147983
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,028 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006723624   ⟹   XP_006723687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,029 - 13,817,663 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011529342   ⟹   XP_011527644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,049 - 13,803,809 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451999   ⟹   XP_024307767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,787,243 - 13,817,647 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001754396
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,026 - 13,821,580 (+)NCBI
Sequence:
RefSeq Acc Id: XR_430269
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,049 - 13,820,822 (+)NCBI
Sequence:
RefSeq Acc Id: XR_937140
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,049 - 13,816,958 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_077025   ⟸   NM_024120
- Peptide Label: isoform 1
- UniProtKB: Q5TEU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001034464   ⟸   NM_001039375
- Peptide Label: isoform 2
- UniProtKB: Q5TEU4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006723687   ⟸   XM_006723624
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011527644   ⟸   XM_011529342
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001339336   ⟸   NM_001352407
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001339335   ⟸   NM_001352406
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001339332   ⟸   NM_001352403
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001339337   ⟸   NM_001352408
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_024307767   ⟸   XM_024451999
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000420497   ⟸   ENST00000463598
RefSeq Acc Id: ENSP00000367346   ⟸   ENST00000378106
RefSeq Acc Id: ENSP00000437325   ⟸   ENST00000378081
Protein Domains
Methyltransf_11

Promoters
RGD ID:6798782
Promoter ID:HG_KWN:38630
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:ENST00000401775,   NM_001039375,   NM_016649,   OTTHUMT00000078057,   OTTHUMT00000078058,   OTTHUMT00000078060,   OTTHUMT00000078063,   OTTHUMT00000129749,   OTTHUMT00000129750,   UC002WOK.1,   UC002WOL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362013,713,531 - 13,714,112 (-)MPROMDB
RGD ID:13206395
Promoter ID:EPDNEW_H26778
Type:initiation region
Name:NDUFAF5_2
Description:NADH:ubiquinone oxidoreductase complex assembly factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26779  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,784,928 - 13,784,988EPDNEW
RGD ID:13206399
Promoter ID:EPDNEW_H26779
Type:initiation region
Name:NDUFAF5_1
Description:NADH:ubiquinone oxidoreductase complex assembly factor 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26778  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382013,785,049 - 13,785,109EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024120.5(NDUFAF5):c.686T>C (p.Leu229Pro) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000000600]|not provided [RCV001376922] Chr20:13801652 [GRCh38]
Chr20:13782298 [GRCh37]
Chr20:20p12.1
pathogenic|likely pathogenic
NM_024120.5(NDUFAF5):c.477A>C (p.Leu159Phe) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000000601] Chr20:13794939 [GRCh38]
Chr20:13775585 [GRCh37]
Chr20:20p12.1
pathogenic
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21
pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p12.1-11.23(chr20:13160260-17910332)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052740]|See cases [RCV000052740] Chr20:13160260..17910332 [GRCh38]
Chr20:13140907..17890976 [GRCh37]
Chr20:13088907..17838976 [NCBI36]
Chr20:20p12.1-11.23
pathogenic
GRCh38/hg38 20p12.1(chr20:13599877-13834151)x3 copy number gain See cases [RCV000052762] Chr20:13599877..13834151 [GRCh38]
Chr20:13580524..13814797 [GRCh37]
Chr20:13528524..13762797 [NCBI36]
Chr20:20p12.1
uncertain significance
GRCh38/hg38 20p12.1(chr20:13651844-14453786)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052763]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052763]|See cases [RCV000052763] Chr20:13651844..14453786 [GRCh38]
Chr20:13632491..14434432 [GRCh37]
Chr20:13580491..14382432 [NCBI36]
Chr20:20p12.1
uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23
pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22
pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) single nucleotide variant Leigh syndrome [RCV001275554]|Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001527303]|not provided [RCV000676286]|not specified [RCV000117708] Chr20:13801548 [GRCh38]
Chr20:13782194 [GRCh37]
Chr20:20p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_024120.5(NDUFAF5):c.486T>C (p.His162=) single nucleotide variant Leigh syndrome [RCV001275553]|not provided [RCV000676285]|not specified [RCV000124050] Chr20:13798467 [GRCh38]
Chr20:13779113 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.779-17C>A single nucleotide variant not specified [RCV000124052] Chr20:13816446 [GRCh38]
Chr20:13797092 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) single nucleotide variant Mitochondrial complex I deficiency [RCV001275556]|not provided [RCV001514513]|not specified [RCV000124053] Chr20:13816533 [GRCh38]
Chr20:13797179 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001001511]|Mitochondrial complex I deficiency [RCV001276989]|not provided [RCV000881776]|not specified [RCV000194103] Chr20:13785251 [GRCh38]
Chr20:13765897 [GRCh37]
Chr20:20p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024120.5(NDUFAF5):c.222+18C>T single nucleotide variant not provided [RCV001519716]|not specified [RCV000124055] Chr20:13785308 [GRCh38]
Chr20:13765954 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.969C>T (p.Ser323=) single nucleotide variant not provided [RCV001494541] Chr20:13817141 [GRCh38]
Chr20:13797787 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001507281] Chr20:13785213 [GRCh38]
Chr20:13765859 [GRCh37]
Chr20:20p12.1
pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1
pathogenic
GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3 copy number gain See cases [RCV000135394] Chr20:12130588..14687477 [GRCh38]
Chr20:12111236..14668123 [GRCh37]
Chr20:12059236..14616123 [NCBI36]
Chr20:20p12.1
uncertain significance
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3 copy number gain See cases [RCV000138042] Chr20:9290612..14648536 [GRCh38]
Chr20:9271259..14629182 [GRCh37]
Chr20:9219259..14577182 [NCBI36]
Chr20:20p12.2-12.1
uncertain significance
GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4 copy number gain See cases [RCV000138887] Chr20:13441077..14062969 [GRCh38]
Chr20:13421724..14043615 [GRCh37]
Chr20:13369724..13991615 [NCBI36]
Chr20:20p12.1
uncertain significance
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1
pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23
pathogenic
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) single nucleotide variant Mitochondrial complex I deficiency [RCV001276992]|not provided [RCV000724562]|not specified [RCV000179971] Chr20:13801551 [GRCh38]
Chr20:13782197 [GRCh37]
Chr20:20p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024120.5(NDUFAF5):c.-1G>C single nucleotide variant not specified [RCV000200218] Chr20:13785068 [GRCh38]
Chr20:13765714 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) single nucleotide variant Mitochondrial complex I deficiency [RCV001276990]|not provided [RCV000911843] Chr20:13785258 [GRCh38]
Chr20:13765904 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.289G>A (p.Gly97Ser) single nucleotide variant not provided [RCV000197446] Chr20:13788614 [GRCh38]
Chr20:13769260 [GRCh37]
Chr20:20p12.1
likely pathogenic
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) single nucleotide variant Mitochondrial complex I deficiency [RCV001276988]|Mitochondrial complex I deficiency, nuclear type 1 [RCV000765487]|not provided [RCV000197548] Chr20:13785246 [GRCh38]
Chr20:13765892 [GRCh37]
Chr20:20p12.1
likely pathogenic|uncertain significance
NM_024120.4(NDUFAF5):c.222+7_222+14delCCGCGGGG deletion not specified [RCV000199116] Chr20:13785297..13785304 [GRCh38]
Chr20:13765943..13765950 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.222+8_222+15del deletion Leigh syndrome [RCV001275552]|not provided [RCV000676283]|not specified [RCV000195552] Chr20:13785297..13785304 [GRCh38]
Chr20:13765943..13765950 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) single nucleotide variant not provided [RCV000195674] Chr20:13785182 [GRCh38]
Chr20:13765828 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.4(NDUFAF5):c.44G>A (p.Trp15Ter) single nucleotide variant not provided [RCV000199319] Chr20:13785112 [GRCh38]
Chr20:13765758 [GRCh37]
Chr20:20p12.1
pathogenic
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) single nucleotide variant not provided [RCV000200122] Chr20:13785160 [GRCh38]
Chr20:13765806 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.327G>C (p.Lys109Asn) single nucleotide variant Inborn genetic diseases [RCV001266325]|Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001507283]|not provided [RCV000255420] Chr20:13788652 [GRCh38]
Chr20:13769298 [GRCh37]
Chr20:20p12.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3 copy number gain Ductal breast carcinoma [RCV000207158] Chr20:13714429..13789519 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) single nucleotide variant not provided [RCV000756415] Chr20:13785093 [GRCh38]
Chr20:13765739 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) single nucleotide variant Inborn genetic diseases [RCV000210569]|Leigh syndrome [RCV001275555]|Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001507280]|Mitochondrial complex I deficiency [RCV000679869] Chr20:13816520 [GRCh38]
Chr20:13797166 [GRCh37]
Chr20:20p12.1
pathogenic|likely pathogenic|uncertain significance
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr) single nucleotide variant Inborn genetic diseases [RCV000210596]|Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001507282] Chr20:13785223 [GRCh38]
Chr20:13765869 [GRCh37]
Chr20:20p12.1
pathogenic|likely pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1
pathogenic
NM_024120.5(NDUFAF5):c.775C>T (p.Gln259Ter) single nucleotide variant not provided [RCV000266952] Chr20:13808899 [GRCh38]
Chr20:13789545 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.181C>T (p.Arg61Trp) single nucleotide variant Leigh syndrome [RCV001279561] Chr20:13785249 [GRCh38]
Chr20:13765895 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.970G>A (p.Ala324Thr) single nucleotide variant Leigh syndrome [RCV001279578] Chr20:13817142 [GRCh38]
Chr20:13797788 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.572G>A (p.Gly191Asp) single nucleotide variant not provided [RCV000585518] Chr20:13801538 [GRCh38]
Chr20:13782184 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.223-6C>T single nucleotide variant Leigh syndrome [RCV001279562]|not provided [RCV001416425] Chr20:13787306 [GRCh38]
Chr20:13767952 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.251A>G (p.Tyr84Cys) single nucleotide variant Leigh syndrome [RCV001279566] Chr20:13787340 [GRCh38]
Chr20:13767986 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.736G>T (p.Val246Phe) single nucleotide variant Leigh syndrome [RCV001279576] Chr20:13808860 [GRCh38]
Chr20:13789506 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.862+15C>T single nucleotide variant not specified [RCV000604303] Chr20:13816561 [GRCh38]
Chr20:13797207 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.439T>C (p.Phe147Leu) single nucleotide variant not provided [RCV000592393] Chr20:13794901 [GRCh38]
Chr20:13775547 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000412492]|Mitochondrial complex I deficiency [RCV000477759]|not provided [RCV000431261] Chr20:13808873 [GRCh38]
Chr20:13789519 [GRCh37]
Chr20:20p12.1
pathogenic|likely pathogenic
NM_024120.5(NDUFAF5):c.641C>T (p.Pro214Leu) single nucleotide variant not provided [RCV000732473] Chr20:13801607 [GRCh38]
Chr20:13782253 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) single nucleotide variant not provided [RCV000434609] Chr20:13787334 [GRCh38]
Chr20:13767980 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.89C>T (p.Thr30Ile) single nucleotide variant not specified [RCV000428553] Chr20:13785157 [GRCh38]
Chr20:13765803 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.612G>A (p.Ala204=) single nucleotide variant not provided [RCV000896864]|not specified [RCV000418991] Chr20:13801578 [GRCh38]
Chr20:13782224 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.597T>C (p.Cys199=) single nucleotide variant not provided [RCV000937958]|not specified [RCV000439232] Chr20:13801563 [GRCh38]
Chr20:13782209 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.450T>C (p.Asn150=) single nucleotide variant not provided [RCV000905153]|not specified [RCV000439288] Chr20:13794912 [GRCh38]
Chr20:13775558 [GRCh37]
Chr20:20p12.1
benign|likely benign
NM_024120.5(NDUFAF5):c.863-16A>G single nucleotide variant not specified [RCV000439414] Chr20:13816859 [GRCh38]
Chr20:13797505 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.449A>G (p.Asn150Ser) single nucleotide variant not provided [RCV000880706]|not specified [RCV000429065] Chr20:13794911 [GRCh38]
Chr20:13775557 [GRCh37]
Chr20:20p12.1
benign|likely benign
NM_024120.5(NDUFAF5):c.882T>C (p.Asp294=) single nucleotide variant not specified [RCV000439571] Chr20:13816894 [GRCh38]
Chr20:13797540 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.264-3dup duplication not provided [RCV000429552] Chr20:13788577..13788578 [GRCh38]
Chr20:13769224 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.375+16A>G single nucleotide variant not specified [RCV000419674] Chr20:13793243 [GRCh38]
Chr20:13773889 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.*7A>C single nucleotide variant not specified [RCV000419968] Chr20:13817217 [GRCh38]
Chr20:13797863 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.207C>T (p.Asp69=) single nucleotide variant not provided [RCV001477033]|not specified [RCV000444337] Chr20:13785275 [GRCh38]
Chr20:13765921 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.216G>A (p.Lys72=) single nucleotide variant not provided [RCV000676282]|not specified [RCV000437355] Chr20:13785284 [GRCh38]
Chr20:13765930 [GRCh37]
Chr20:20p12.1
likely benign
GRCh37/hg19 20p12.3-12.1(chr20:9121901-16858469)x1 copy number loss See cases [RCV000448674] Chr20:9121901..16858469 [GRCh37]
Chr20:20p12.3-12.1
pathogenic
NM_024120.5(NDUFAF5):c.583dup (p.Tyr195fs) duplication not provided [RCV000485687] Chr20:13801548..13801549 [GRCh38]
Chr20:13782194..13782195 [GRCh37]
Chr20:20p12.1
likely pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21
pathogenic
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) single nucleotide variant Leber plus disease [RCV000509003] Chr20:13788615 [GRCh38]
Chr20:13769261 [GRCh37]
Chr20:20p12.1
likely pathogenic
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) duplication Leber plus disease [RCV000509006]|Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001089945]|Mitochondrial complex I deficiency, nuclear type 1 [RCV001329312] Chr20:13817195..13817196 [GRCh38]
Chr20:13797841..13797842 [GRCh37]
Chr20:20p12.1
likely pathogenic|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p12.1(chr20:13390634-15317978)x1 copy number loss See cases [RCV000510726] Chr20:13390634..15317978 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.-26G>T single nucleotide variant not specified [RCV000606089] Chr20:13785043 [GRCh38]
Chr20:13765689 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.520-11A>G single nucleotide variant not specified [RCV000609634] Chr20:13801475 [GRCh38]
Chr20:13782121 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.945+17G>C single nucleotide variant not specified [RCV000600478] Chr20:13816974 [GRCh38]
Chr20:13797620 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.862+14A>G single nucleotide variant not specified [RCV000613047] Chr20:13816560 [GRCh38]
Chr20:13797206 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.-17T>C single nucleotide variant not specified [RCV000607728] Chr20:13785052 [GRCh38]
Chr20:13765698 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.834A>G (p.Thr278=) single nucleotide variant not provided [RCV000976561]|not specified [RCV000616729] Chr20:13816518 [GRCh38]
Chr20:13797164 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.718-1G>A single nucleotide variant not provided [RCV000595434] Chr20:13808841 [GRCh38]
Chr20:13789487 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.618G>A (p.Thr206=) single nucleotide variant not provided [RCV000932892]|not specified [RCV000609287] Chr20:13801584 [GRCh38]
Chr20:13782230 [GRCh37]
Chr20:20p12.1
benign|likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_024120.5(NDUFAF5):c.223-20C>A single nucleotide variant not specified [RCV000606358] Chr20:13787292 [GRCh38]
Chr20:13767938 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.213G>C (p.Leu71=) single nucleotide variant not provided [RCV000676281] Chr20:13785281 [GRCh38]
Chr20:13765927 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+8C>G single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001196971]|not provided [RCV000676284] Chr20:13785298 [GRCh38]
Chr20:13765944 [GRCh37]
Chr20:20p12.1
benign|likely benign
GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3 copy number gain not provided [RCV000684133] Chr20:7604120..14739025 [GRCh37]
Chr20:20p12.3-12.1
pathogenic
GRCh37/hg19 20p12.1(chr20:13581396-13909450)x3 copy number gain not provided [RCV000684111] Chr20:13581396..13909450 [GRCh37]
Chr20:20p12.1
likely benign
GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1 copy number loss not provided [RCV000684134] Chr20:3092739..17091453 [GRCh37]
Chr20:20p13-12.1
pathogenic
NM_024120.5(NDUFAF5):c.222+9_222+10insGCGGGGCGGCGGGGCG insertion Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001000346] Chr20:13785297..13785298 [GRCh38]
Chr20:13765943..13765944 [GRCh37]
Chr20:20p12.1
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_024120.5(NDUFAF5):c.237C>T (p.Ile79=) single nucleotide variant not provided [RCV000756416] Chr20:13787326 [GRCh38]
Chr20:13767972 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.495T>C (p.Asn165=) single nucleotide variant not provided [RCV000921614] Chr20:13798476 [GRCh38]
Chr20:13779122 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.479+10C>G single nucleotide variant not provided [RCV000943019] Chr20:13794951 [GRCh38]
Chr20:13775597 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.412G>A (p.Val138Ile) single nucleotide variant not provided [RCV000945239] Chr20:13794874 [GRCh38]
Chr20:13775520 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.263+8G>A single nucleotide variant not provided [RCV000942409] Chr20:13787360 [GRCh38]
Chr20:13768006 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.130C>T (p.Leu44=) single nucleotide variant not provided [RCV000926483] Chr20:13785198 [GRCh38]
Chr20:13765844 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.667A>C (p.Asn223His) single nucleotide variant Leigh syndrome [RCV001279574]|not provided [RCV000944245] Chr20:13801633 [GRCh38]
Chr20:13782279 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV000942238] Chr20:13785248 [GRCh38]
Chr20:13765894 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.177A>G (p.Ala59=) single nucleotide variant not provided [RCV000949851] Chr20:13785245 [GRCh38]
Chr20:13765891 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] microsatellite not provided [RCV000949852] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055) copy number gain not provided [RCV000767743] Chr20:11716825..19331055 [GRCh37]
Chr20:20p12.2-11.23
pathogenic
NM_024120.5(NDUFAF5):c.750A>G (p.Gly250=) single nucleotide variant Mitochondrial complex I deficiency [RCV001276994]|not provided [RCV000932852] Chr20:13808874 [GRCh38]
Chr20:13789520 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.9G>A (p.Arg3=) single nucleotide variant Mitochondrial complex I deficiency [RCV001276987]|not provided [RCV000903055] Chr20:13785077 [GRCh38]
Chr20:13765723 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) single nucleotide variant Mitochondrial complex I deficiency [RCV001276997]|not provided [RCV000909261] Chr20:13817201 [GRCh38]
Chr20:13797847 [GRCh37]
Chr20:20p12.1
benign|uncertain significance
NM_024120.5(NDUFAF5):c.862+10G>A single nucleotide variant not provided [RCV000977126] Chr20:13816556 [GRCh38]
Chr20:13797202 [GRCh37]
Chr20:20p12.1
likely benign
NM_001276380.2(ESF1):c.-44+19G>A single nucleotide variant not provided [RCV000828789] Chr20:13784861 [GRCh38]
Chr20:13765507 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.520-160_520-157del deletion not provided [RCV000832299] Chr20:13801326..13801329 [GRCh38]
Chr20:13781972..13781975 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.264-173T>C single nucleotide variant not provided [RCV000828790] Chr20:13788416 [GRCh38]
Chr20:13769062 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.327+215A>G single nucleotide variant not provided [RCV000832943] Chr20:13788867 [GRCh38]
Chr20:13769513 [GRCh37]
Chr20:20p12.1
likely benign
GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1 copy number loss not provided [RCV001007080] Chr20:8571696..22088650 [GRCh37]
Chr20:20p12.3-11.22
pathogenic
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000990291] Chr20:13785214 [GRCh38]
Chr20:13765860 [GRCh37]
Chr20:20p12.1
likely pathogenic
NM_024120.5(NDUFAF5):c.376-327T>C single nucleotide variant not provided [RCV000830489] Chr20:13794511 [GRCh38]
Chr20:13775157 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.263+81T>G single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001527301]|not provided [RCV000833167] Chr20:13787433 [GRCh38]
Chr20:13768079 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.480-229C>G single nucleotide variant not provided [RCV000828542] Chr20:13798232 [GRCh38]
Chr20:13778878 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.328-254C>G single nucleotide variant not provided [RCV000843587] Chr20:13792926 [GRCh38]
Chr20:13773572 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.718-241A>G single nucleotide variant not provided [RCV000843591] Chr20:13808601 [GRCh38]
Chr20:13789247 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.779-209T>C single nucleotide variant not provided [RCV000828791] Chr20:13816254 [GRCh38]
Chr20:13796900 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV000985087] Chr20:13816505 [GRCh38]
Chr20:13797151 [GRCh37]
Chr20:20p12.1
likely pathogenic|uncertain significance
GRCh37/hg19 20p12.1(chr20:13552553-13963728)x3 copy number gain not provided [RCV000846501] Chr20:13552553..13963728 [GRCh37]
Chr20:20p12.1
uncertain significance
GRCh37/hg19 20p12.1(chr20:13390634-13990967)x3 copy number gain not provided [RCV001007084] Chr20:13390634..13990967 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.519+4A>G single nucleotide variant Leigh syndrome [RCV001249208] Chr20:13798504 [GRCh38]
Chr20:13779150 [GRCh37]
Chr20:20p12.1
likely pathogenic
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[6] microsatellite not provided [RCV000902727] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) single nucleotide variant Mitochondrial complex I deficiency [RCV001276995]|not provided [RCV000896159] Chr20:13808876 [GRCh38]
Chr20:13789522 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.189C>G (p.Pro63=) single nucleotide variant not provided [RCV000932851] Chr20:13785257 [GRCh38]
Chr20:13765903 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.562A>G (p.Met188Val) single nucleotide variant Leigh syndrome [RCV001249209] Chr20:13801528 [GRCh38]
Chr20:13782174 [GRCh37]
Chr20:20p12.1
likely pathogenic
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) single nucleotide variant Mitochondrial complex I deficiency [RCV001276996]|not provided [RCV000933708] Chr20:13817192 [GRCh38]
Chr20:13797838 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=) single nucleotide variant Leigh syndrome [RCV001276993]|not provided [RCV000935102] Chr20:13801644 [GRCh38]
Chr20:13782290 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.531T>C (p.Ile177=) single nucleotide variant Leigh syndrome [RCV001276991]|not provided [RCV000889776] Chr20:13801497 [GRCh38]
Chr20:13782143 [GRCh37]
Chr20:20p12.1
benign|uncertain significance
NM_024120.5(NDUFAF5):c.27C>T (p.Arg9=) single nucleotide variant not provided [RCV000935200] Chr20:13785095 [GRCh38]
Chr20:13765741 [GRCh37]
Chr20:20p12.1
likely benign
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1
pathogenic
GRCh37/hg19 20p12.1(chr20:13432028-13987668)x3 copy number gain not provided [RCV001258740] Chr20:13432028..13987668 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.232C>T (p.Arg78Trp) single nucleotide variant Leigh syndrome [RCV001279563] Chr20:13787321 [GRCh38]
Chr20:13767967 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.760T>C (p.Leu254=) single nucleotide variant Leigh syndrome [RCV001279577]|not provided [RCV001475191] Chr20:13808884 [GRCh38]
Chr20:13789530 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
GRCh37/hg19 20p12.1(chr20:13737300-13804101)x1 copy number loss not provided [RCV001258744] Chr20:13737300..13804101 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001329313] Chr20:13785203 [GRCh38]
Chr20:13765849 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[7] microsatellite not provided [RCV001397201] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) single nucleotide variant Mitochondrial complex I deficiency, nuclear type 1 [RCV001336085] Chr20:13785244 [GRCh38]
Chr20:13765890 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.408C>A (p.Val136=) single nucleotide variant not provided [RCV001395039] Chr20:13794870 [GRCh38]
Chr20:13775516 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.339A>G (p.Gly113=) single nucleotide variant not provided [RCV001396988] Chr20:13793191 [GRCh38]
Chr20:13773837 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.129C>T (p.Thr43=) single nucleotide variant not provided [RCV001433056] Chr20:13785197 [GRCh38]
Chr20:13765843 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+7C>T single nucleotide variant not provided [RCV001422244] Chr20:13785297 [GRCh38]
Chr20:13765943 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.30A>T (p.Leu10Phe) single nucleotide variant Leigh syndrome [RCV001279559] Chr20:13785098 [GRCh38]
Chr20:13765744 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.479+5G>A single nucleotide variant Leigh syndrome [RCV001279568] Chr20:13794946 [GRCh38]
Chr20:13775592 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.603A>G (p.Leu201=) single nucleotide variant Leigh syndrome [RCV001279572] Chr20:13801569 [GRCh38]
Chr20:13782215 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.672C>T (p.Asp224=) single nucleotide variant not provided [RCV001433257] Chr20:13801638 [GRCh38]
Chr20:13782284 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.579A>G (p.Thr193=) single nucleotide variant not provided [RCV001414229] Chr20:13801545 [GRCh38]
Chr20:13782191 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.529A>G (p.Ile177Val) single nucleotide variant Leigh syndrome [RCV001279571] Chr20:13801495 [GRCh38]
Chr20:13782141 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.668A>G (p.Asn223Ser) single nucleotide variant Leigh syndrome [RCV001279575] Chr20:13801634 [GRCh38]
Chr20:13782280 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.480-3T>G single nucleotide variant Leigh syndrome [RCV001279569] Chr20:13798458 [GRCh38]
Chr20:13779104 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.524A>G (p.His175Arg) single nucleotide variant Leigh syndrome [RCV001279570] Chr20:13801490 [GRCh38]
Chr20:13782136 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.93T>C (p.Ser31=) single nucleotide variant Leigh syndrome [RCV001279560] Chr20:13785161 [GRCh38]
Chr20:13765807 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.263+7G>A single nucleotide variant Leigh syndrome [RCV001279567]|not provided [RCV001456554] Chr20:13787359 [GRCh38]
Chr20:13768005 [GRCh37]
Chr20:20p12.1
likely benign|uncertain significance
NM_024120.5(NDUFAF5):c.1024A>G (p.Lys342Glu) single nucleotide variant Leigh syndrome [RCV001279579] Chr20:13817196 [GRCh38]
Chr20:13797842 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.233G>A (p.Arg78Gln) single nucleotide variant Leigh syndrome [RCV001279564] Chr20:13787322 [GRCh38]
Chr20:13767968 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.235A>T (p.Ile79Phe) single nucleotide variant Leigh syndrome [RCV001279565] Chr20:13787324 [GRCh38]
Chr20:13767970 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.617C>T (p.Thr206Met) single nucleotide variant Leigh syndrome [RCV001279573] Chr20:13801583 [GRCh38]
Chr20:13782229 [GRCh37]
Chr20:20p12.1
uncertain significance
NM_024120.5(NDUFAF5):c.223-907A>C single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001507284] Chr20:13786405 [GRCh38]
Chr20:13767051 [GRCh37]
Chr20:20p12.1
pathogenic
NM_024120.5(NDUFAF5):c.223-15C>T single nucleotide variant not provided [RCV001513501] Chr20:13787297 [GRCh38]
Chr20:13767943 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.479+9T>C single nucleotide variant not provided [RCV001473079] Chr20:13794950 [GRCh38]
Chr20:13775596 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.255C>T (p.Asp85=) single nucleotide variant not provided [RCV001450540] Chr20:13787344 [GRCh38]
Chr20:13767990 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.7C>A (p.Arg3=) single nucleotide variant not provided [RCV001466692] Chr20:13785075 [GRCh38]
Chr20:13765721 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.315A>G (p.Gln105=) single nucleotide variant not provided [RCV001482019] Chr20:13788640 [GRCh38]
Chr20:13769286 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.30A>G (p.Leu10=) single nucleotide variant not provided [RCV001430758] Chr20:13785098 [GRCh38]
Chr20:13765744 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.594G>A (p.Arg198=) single nucleotide variant not provided [RCV001491030] Chr20:13801560 [GRCh38]
Chr20:13782206 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.108C>T (p.Arg36=) single nucleotide variant not provided [RCV001455657] Chr20:13785176 [GRCh38]
Chr20:13765822 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.21C>T (p.Leu7=) single nucleotide variant not provided [RCV001451815] Chr20:13785089 [GRCh38]
Chr20:13765735 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.57C>T (p.Val19=) single nucleotide variant not provided [RCV001492772] Chr20:13785125 [GRCh38]
Chr20:13765771 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.40C>G (p.Pro14Ala) single nucleotide variant not provided [RCV001505494] Chr20:13785108 [GRCh38]
Chr20:13765754 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.863-10G>A single nucleotide variant not provided [RCV001471728] Chr20:13816865 [GRCh38]
Chr20:13797511 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.120G>T (p.Ser40=) single nucleotide variant not provided [RCV001459664] Chr20:13785188 [GRCh38]
Chr20:13765834 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[4] microsatellite not provided [RCV001513568] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.222+14_222+15insTGGCGGGG insertion not provided [RCV001481480] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.789G>A (p.Glu263=) single nucleotide variant not provided [RCV001419142] Chr20:13816473 [GRCh38]
Chr20:13797119 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.863-7T>G single nucleotide variant not provided [RCV001440577] Chr20:13816868 [GRCh38]
Chr20:13797514 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.479+8A>G single nucleotide variant not provided [RCV001409247] Chr20:13794949 [GRCh38]
Chr20:13775595 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[2] microsatellite not provided [RCV001424786] Chr20:13785299..13785306 [GRCh38]
Chr20:13765945..13765952 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.39A>T (p.Arg13=) single nucleotide variant not provided [RCV001409638] Chr20:13785107 [GRCh38]
Chr20:13765753 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.894T>C (p.Pro298=) single nucleotide variant not provided [RCV001407055] Chr20:13816906 [GRCh38]
Chr20:13797552 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.723T>C (p.Thr241=) single nucleotide variant not provided [RCV001446687] Chr20:13808847 [GRCh38]
Chr20:13789493 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.429A>G (p.Glu143=) single nucleotide variant not provided [RCV001446703] Chr20:13794891 [GRCh38]
Chr20:13775537 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.63G>A (p.Ala21=) single nucleotide variant not provided [RCV001418700] Chr20:13785131 [GRCh38]
Chr20:13765777 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.117C>G (p.Thr39=) single nucleotide variant not provided [RCV001446686] Chr20:13785185 [GRCh38]
Chr20:13765831 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.348C>T (p.Phe116=) single nucleotide variant not provided [RCV001410120] Chr20:13793200 [GRCh38]
Chr20:13773846 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.376-5A>G single nucleotide variant not provided [RCV001410578] Chr20:13794833 [GRCh38]
Chr20:13775479 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.648T>A (p.Ile216=) single nucleotide variant not provided [RCV001415839] Chr20:13801614 [GRCh38]
Chr20:13782260 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.942A>C (p.Ser314=) single nucleotide variant not provided [RCV001437888] Chr20:13816954 [GRCh38]
Chr20:13797600 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.826C>A (p.Arg276=) single nucleotide variant not provided [RCV001408833] Chr20:13816510 [GRCh38]
Chr20:13797156 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+10_222+11insCGGGCGGCGGGGCGGC insertion not provided [RCV001467820] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.249A>G (p.Val83=) single nucleotide variant not provided [RCV001476028] Chr20:13787338 [GRCh38]
Chr20:13767984 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.376-5A>C single nucleotide variant not provided [RCV001458806] Chr20:13794833 [GRCh38]
Chr20:13775479 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.273C>A (p.Pro91=) single nucleotide variant not provided [RCV001477489] Chr20:13788598 [GRCh38]
Chr20:13769244 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.411C>T (p.Ser137=) single nucleotide variant not provided [RCV001478306] Chr20:13794873 [GRCh38]
Chr20:13775519 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.105C>T (p.Pro35=) single nucleotide variant not provided [RCV001455285] Chr20:13785173 [GRCh38]
Chr20:13765819 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.453A>G (p.Thr151=) single nucleotide variant not provided [RCV001425013] Chr20:13794915 [GRCh38]
Chr20:13775561 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.18G>A (p.Gly6=) single nucleotide variant not provided [RCV001468991] Chr20:13785086 [GRCh38]
Chr20:13765732 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+8C>T single nucleotide variant not provided [RCV001490748] Chr20:13785298 [GRCh38]
Chr20:13765944 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.863-9T>C single nucleotide variant not provided [RCV001500395] Chr20:13816866 [GRCh38]
Chr20:13797512 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.222+12_222+13insCGCGGCGGGGCGGCGG microsatellite not provided [RCV001464531] Chr20:13785298..13785299 [GRCh38]
Chr20:13765944..13765945 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.12G>A (p.Pro4=) single nucleotide variant not provided [RCV001451849] Chr20:13785080 [GRCh38]
Chr20:13765726 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.264-108A>G single nucleotide variant Mitochondrial complex 1 deficiency, nuclear type 16 [RCV001527302] Chr20:13788481 [GRCh38]
Chr20:13769127 [GRCh37]
Chr20:20p12.1
benign
NM_024120.5(NDUFAF5):c.673C>T (p.Leu225=) single nucleotide variant not provided [RCV001499545] Chr20:13801639 [GRCh38]
Chr20:13782285 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.863-7T>C single nucleotide variant not provided [RCV001401274] Chr20:13816868 [GRCh38]
Chr20:13797514 [GRCh37]
Chr20:20p12.1
likely benign
NM_024120.5(NDUFAF5):c.327+8del deletion not provided [RCV001462402] Chr20:13788658 [GRCh38]
Chr20:13769304 [GRCh37]
Chr20:20p12.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15899 AgrOrtholog
COSMIC NDUFAF5 COSMIC
Ensembl Genes ENSG00000101247 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000367346 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000420497 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437325 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000378081 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000378106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000463598 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000101247 GTEx
HGNC ID HGNC:15899 ENTREZGENE
Human Proteome Map NDUFAF5 Human Proteome Map
InterPro Methyltransf_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79133 UniProtKB/Swiss-Prot
NCBI Gene 79133 ENTREZGENE
OMIM 612360 OMIM
  618238 OMIM
Pfam Methyltransf_11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25780 PharmGKB
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KR61_HUMAN UniProtKB/TrEMBL
  NDUF5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K166 UniProtKB/Swiss-Prot
  Q6GPH3 UniProtKB/Swiss-Prot
  Q9H6F4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 NDUFAF5  NADH:ubiquinone oxidoreductase complex assembly factor 5  NDUFAF5  NADH dehydrogenase (ubiquinone) complex I, assembly factor 5  Symbol and/or name change 5135510 APPROVED
2012-06-27 NDUFAF5  NADH dehydrogenase (ubiquinone) complex I, assembly factor 5  C20orf7  chromosome 20 open reading frame 7  Symbol and/or name change 5135510 APPROVED
2011-07-27 C20orf7  chromosome 20 open reading frame 7  C20orf7  chromosome 20 open reading frame 7  Symbol and/or name change 5135510 APPROVED