SURF1 (SURF1 cytochrome c oxidase assembly factor) - Rat Genome Database

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Gene: SURF1 (SURF1 cytochrome c oxidase assembly factor) Homo sapiens
Analyze
Symbol: SURF1
Name: SURF1 cytochrome c oxidase assembly factor
RGD ID: 732036
HGNC Page HGNC
Description: Predicted to enable cytochrome-c oxidase activity. Involved in mitochondrial cytochrome c oxidase assembly. Predicted to be located in mitochondrial respirasome. Implicated in Charcot-Marie-Tooth disease type 4K; Leigh disease; and cytochrome-c oxidase deficiency disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMT4K; MC4DN1; SHY1; SURF1, cytochrome c oxidase assembly factor; surfeit 1; surfeit locus protein 1
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 Ensembl9133,351,758 - 133,356,676 (-)EnsemblGRCh38hg38GRCh38
GRCh389133,351,758 - 133,356,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379136,218,613 - 136,223,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,208,487 - 135,213,182 (-)NCBINCBI36hg18NCBI36
Build 349133,248,219 - 133,252,915NCBI
Celera9106,769,152 - 106,773,840 (-)NCBI
Cytogenetic Map9q34.2NCBI
HuRef9105,718,581 - 105,723,261 (-)NCBIHuRef
CHM1_19136,368,824 - 136,373,504 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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 brainstem morphology  (IAGP)
Abnormal caudate nucleus morphology  (IAGP)
Abnormal cerebral cortex morphology  (IAGP)
Abnormal globus pallidus morphology  (IAGP)
Abnormal renal tubule morphology  (IAGP)
Abnormal saccadic eye movements  (IAGP)
Abnormality of thalamus morphology  (IAGP)
Aminoaciduria  (IAGP)
Anemia  (IAGP)
Apnea  (IAGP)
Areflexia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal loss  (IAGP)
Basal ganglia gliosis  (IAGP)
Bilateral ptosis  (IAGP)
Cardiac conduction abnormality  (IAGP)
Central hypoventilation  (IAGP)
Chorea  (IAGP)
Congestive heart failure  (IAGP)
Cytochrome C oxidase-negative muscle fibers  (IAGP)
Decreased activity of mitochondrial respiratory chain  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Decreased liver function  (IAGP)
Developmental regression  (IAGP)
Difficulty walking  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dysarthria  (IAGP)
Dyskinesia  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Easy fatigability  (IAGP)
Elevated brain lactate level by MRS  (IAGP)
Emotional lability  (IAGP)
Exercise intolerance  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive  (IAGP)
Fluctuations in consciousness  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Generalized hypotonia  (IAGP)
Global brain atrophy  (IAGP)
Global developmental delay  (IAGP)
Glycosuria  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperphosphaturia  (IAGP)
Hyperreflexia  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Increased CSF lactate  (IAGP)
Increased hepatocellular lipid droplets  (IAGP)
Increased intramyocellular lipid droplets  (IAGP)
Increased serum lactate  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Kyphoscoliosis  (IAGP)
Lactic acidosis  (IAGP)
Leukodystrophy  (IAGP)
Leukoencephalopathy  (IAGP)
Limited extraocular movements  (IAGP)
Mental deterioration  (IAGP)
Mitochondrial inheritance  (IAGP)
Mitral regurgitation  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Neuronal loss in basal ganglia  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Peripheral demyelination  (IAGP)
Peripheral neuropathy  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor suck  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive spastic paraplegia  (IAGP)
Proteinuria  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Renal agenesis  (IAGP)
Renal dysplasia  (IAGP)
Renal Fanconi syndrome  (IAGP)
Renal tubular acidosis  (IAGP)
Respiratory distress  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Retinopathy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slowly progressive  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Weakness of facial musculature  (IAGP)
References

Additional References at PubMed
PMID:7702754   PMID:8499913   PMID:9740673   PMID:10556302   PMID:10556303   PMID:10647889   PMID:10746561   PMID:11317352   PMID:11579424   PMID:11955926   PMID:12477932   PMID:12515039  
PMID:12538779   PMID:12812953   PMID:14557577   PMID:14607829   PMID:15214016   PMID:15489334   PMID:15764605   PMID:16083427   PMID:16806233   PMID:17908801   PMID:18583168   PMID:19295170  
PMID:19625251   PMID:19780766   PMID:19913121   PMID:20201926   PMID:20436434   PMID:20601676   PMID:20624914   PMID:20628086   PMID:20843780   PMID:20877624   PMID:20888800   PMID:21988832  
PMID:22410471   PMID:22465034   PMID:22488715   PMID:22658674   PMID:22729384   PMID:22939629   PMID:23260140   PMID:24027061   PMID:26186194   PMID:26321642   PMID:26425749   PMID:26760575  
PMID:26804654   PMID:26871637   PMID:28514442   PMID:29481804   PMID:29509190   PMID:29715184   PMID:29933018   PMID:32380162   PMID:32877691   PMID:33771987  


Genomics

Comparative Map Data
SURF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl9133,351,758 - 133,356,676 (-)EnsemblGRCh38hg38GRCh38
GRCh389133,351,758 - 133,356,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh379136,218,613 - 136,223,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369135,208,487 - 135,213,182 (-)NCBINCBI36hg18NCBI36
Build 349133,248,219 - 133,252,915NCBI
Celera9106,769,152 - 106,773,840 (-)NCBI
Cytogenetic Map9q34.2NCBI
HuRef9105,718,581 - 105,723,261 (-)NCBIHuRef
CHM1_19136,368,824 - 136,373,504 (-)NCBICHM1_1
Surf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39226,803,390 - 26,806,667 (-)NCBIGRCm39mm39
GRCm39 Ensembl226,803,393 - 26,806,542 (-)Ensembl
GRCm38226,913,378 - 26,916,610 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl226,913,381 - 26,916,530 (-)EnsemblGRCm38mm10GRCm38
MGSCv37226,768,898 - 26,772,050 (-)NCBIGRCm37mm9NCBIm37
MGSCv36226,735,445 - 26,738,340 (-)NCBImm8
Celera226,623,123 - 26,626,275 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map219.1NCBI
Surf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2310,241,793 - 10,244,686 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl310,241,837 - 10,263,315 (-)Ensembl
Rnor_6.035,461,717 - 5,464,560 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl34,869,795 - 4,872,632 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0310,823,627 - 10,826,484 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.435,810,638 - 5,813,475 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.135,810,937 - 5,813,775 (-)NCBI
Celera35,039,828 - 5,042,665 (-)NCBICelera
Cytogenetic Map3p13NCBI
Surf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555132,707,951 - 2,711,566 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555132,707,877 - 2,711,606 (-)NCBIChiLan1.0ChiLan1.0
LOC100983451
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.19133,085,739 - 133,088,911 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9133,085,739 - 133,088,904 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v09104,475,018 - 104,479,714 (-)NCBIMhudiblu_PPA_v0panPan3
SURF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1949,786,562 - 49,790,004 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl949,786,085 - 49,790,148 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha949,066,928 - 49,071,492 (-)NCBI
ROS_Cfam_1.0950,659,471 - 50,664,036 (-)NCBI
UMICH_Zoey_3.1949,421,907 - 49,426,471 (-)NCBI
UNSW_CanFamBas_1.0949,763,390 - 49,767,971 (-)NCBI
UU_Cfam_GSD_1.0949,841,389 - 49,845,964 (-)NCBI
LOC101971854
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947199,842,971 - 199,847,440 (-)NCBI
SpeTri2.0NW_0049366693,527,741 - 3,532,087 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SURF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1272,965,637 - 272,970,510 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11272,965,637 - 272,970,516 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
LOC103239687
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1124,780,415 - 4,785,538 (+)NCBI
ChlSab1.1 Ensembl124,780,568 - 4,785,385 (+)Ensembl
Vero_WHO_p1.0NW_023666058203,090 - 208,286 (-)NCBI
LOC101710326
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247601,815,215 - 1,819,014 (-)NCBI

Position Markers
RH11616  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2UniSTS
GeneMap99-GB4 RH Map9412.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:707
Count of miRNA genes:389
Interacting mature miRNAs:404
Transcripts:ENST00000371974, ENST00000437995, ENST00000463965, ENST00000495952
Prediction methods:Miranda, Rnahybrid
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 2436 2886 1724 624 1905 465 4355 2137 3704 415 1455 1611 173 1204 2787 6 2
Low 3 105 2 46 1 60 30 4 5 2 2 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI479876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL593848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE645550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE905282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM542342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371974   ⟹   ENSP00000361042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,351,758 - 133,356,487 (-)Ensembl
RefSeq Acc Id: ENST00000437995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,351,913 - 133,356,320 (-)Ensembl
RefSeq Acc Id: ENST00000463965
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,356,105 - 133,356,676 (-)Ensembl
RefSeq Acc Id: ENST00000495952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,351,875 - 133,354,253 (-)Ensembl
RefSeq Acc Id: ENST00000615505   ⟹   ENSP00000482067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl9133,351,805 - 133,356,485 (-)Ensembl
RefSeq Acc Id: NM_001280787   ⟹   NP_001267716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,351,805 - 133,356,485 (-)NCBI
HuRef9105,718,581 - 105,723,261 (-)NCBI
CHM1_19136,368,824 - 136,373,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003172   ⟹   NP_003163
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,351,758 - 133,356,487 (-)NCBI
GRCh379136,218,660 - 136,223,361 (-)NCBI
Build 369135,208,487 - 135,213,182 (-)NCBI Archive
HuRef9105,718,581 - 105,723,261 (-)NCBI
CHM1_19136,368,824 - 136,373,504 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518942   ⟹   XP_011517244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,351,808 - 133,356,320 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001267716 (Get FASTA)   NCBI Sequence Viewer  
  NP_003163 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517244 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH28314 (Get FASTA)   NCBI Sequence Viewer  
  AAH71658 (Get FASTA)   NCBI Sequence Viewer  
  ADP91654 (Get FASTA)   NCBI Sequence Viewer  
  ADP91655 (Get FASTA)   NCBI Sequence Viewer  
  ADP91656 (Get FASTA)   NCBI Sequence Viewer  
  ADP91657 (Get FASTA)   NCBI Sequence Viewer  
  ADP91658 (Get FASTA)   NCBI Sequence Viewer  
  ADP91659 (Get FASTA)   NCBI Sequence Viewer  
  ADP91660 (Get FASTA)   NCBI Sequence Viewer  
  ADP91661 (Get FASTA)   NCBI Sequence Viewer  
  ADP91662 (Get FASTA)   NCBI Sequence Viewer  
  ADP91663 (Get FASTA)   NCBI Sequence Viewer  
  ADP91664 (Get FASTA)   NCBI Sequence Viewer  
  ADP91665 (Get FASTA)   NCBI Sequence Viewer  
  ADP91666 (Get FASTA)   NCBI Sequence Viewer  
  ADP91667 (Get FASTA)   NCBI Sequence Viewer  
  ADP91668 (Get FASTA)   NCBI Sequence Viewer  
  ADP91669 (Get FASTA)   NCBI Sequence Viewer  
  ADP91670 (Get FASTA)   NCBI Sequence Viewer  
  ADP91671 (Get FASTA)   NCBI Sequence Viewer  
  ADP91672 (Get FASTA)   NCBI Sequence Viewer  
  ADP91673 (Get FASTA)   NCBI Sequence Viewer  
  ADP91674 (Get FASTA)   NCBI Sequence Viewer  
  ADP91675 (Get FASTA)   NCBI Sequence Viewer  
  ADP91676 (Get FASTA)   NCBI Sequence Viewer  
  ADP91677 (Get FASTA)   NCBI Sequence Viewer  
  ADP91678 (Get FASTA)   NCBI Sequence Viewer  
  ADP91679 (Get FASTA)   NCBI Sequence Viewer  
  ADP91680 (Get FASTA)   NCBI Sequence Viewer  
  ADP91681 (Get FASTA)   NCBI Sequence Viewer  
  ADP91682 (Get FASTA)   NCBI Sequence Viewer  
  ADP91683 (Get FASTA)   NCBI Sequence Viewer  
  ADP91684 (Get FASTA)   NCBI Sequence Viewer  
  ADP91685 (Get FASTA)   NCBI Sequence Viewer  
  ADP91686 (Get FASTA)   NCBI Sequence Viewer  
  ADP91687 (Get FASTA)   NCBI Sequence Viewer  
  ADP91688 (Get FASTA)   NCBI Sequence Viewer  
  ADP91689 (Get FASTA)   NCBI Sequence Viewer  
  ADP91690 (Get FASTA)   NCBI Sequence Viewer  
  ADP91691 (Get FASTA)   NCBI Sequence Viewer  
  ADP91692 (Get FASTA)   NCBI Sequence Viewer  
  ADP91693 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33799 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33800 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33801 (Get FASTA)   NCBI Sequence Viewer  
  BAF83811 (Get FASTA)   NCBI Sequence Viewer  
  CAA76689 (Get FASTA)   NCBI Sequence Viewer  
  CAA84476 (Get FASTA)   NCBI Sequence Viewer  
  CAI12836 (Get FASTA)   NCBI Sequence Viewer  
  CAI12837 (Get FASTA)   NCBI Sequence Viewer  
  EAW88067 (Get FASTA)   NCBI Sequence Viewer  
  Q15526 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_003163   ⟸   NM_003172
- Peptide Label: isoform 1
- UniProtKB: Q15526 (UniProtKB/Swiss-Prot),   E5KRX5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001267716   ⟸   NM_001280787
- Peptide Label: isoform 2
- UniProtKB: Q15526 (UniProtKB/Swiss-Prot),   A0A087WYS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517244   ⟸   XM_011518942
- Peptide Label: isoform X1
- UniProtKB: A0A087WYS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361042   ⟸   ENST00000371974
RefSeq Acc Id: ENSP00000482067   ⟸   ENST00000615505

Promoters
RGD ID:7216539
Promoter ID:EPDNEW_H14015
Type:initiation region
Name:SURF1_1
Description:SURF1, cytochrome c oxidase assembly factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389133,356,487 - 133,356,547EPDNEW
RGD ID:6808280
Promoter ID:HG_KWN:65445
Type:Non-CpG
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:UC004CDG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369135,210,426 - 135,211,707 (-)MPROMDB
RGD ID:6808278
Promoter ID:HG_KWN:65446
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000054879,   OTTHUMT00000054881,   OTTHUMT00000054882
Position:
Human AssemblyChrPosition (strand)Source
Build 369135,213,221 - 135,214,372 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003172.4(SURF1):c.879C>T (p.Phe293=) single nucleotide variant Leigh syndrome [RCV000549524]|not provided [RCV001566842] Chr9:133351937 [GRCh38]
Chr9:136218792 [GRCh37]
Chr9:9q34.2
likely benign
SURF1, 765C-T single nucleotide variant Mitochondrial complex IV deficiency [RCV000013594] Chr9:9q34 pathogenic
NM_003172.4(SURF1):c.323+2T>C single nucleotide variant Mitochondrial complex IV deficiency [RCV000013595] Chr9:133354657 [GRCh38]
Chr9:136221512 [GRCh37]
Chr9:9q34.2
pathogenic
SURF1, 2-BP INS/10-BP DEL, NT326 indel Congenital myasthenic syndrome, acetazolamide-responsive [RCV000013596]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000013596] Chr9:9q34 pathogenic
SURF1, 2-BP DEL, 855CT deletion Mitochondrial complex IV deficiency [RCV000013597] Chr9:9q34 pathogenic
SURF1, 1-BP INS, 882T insertion Mitochondrial complex IV deficiency [RCV000013598] Chr9:9q34 pathogenic
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) single nucleotide variant Leigh syndrome [RCV000589222]|Mitochondrial complex IV deficiency [RCV000013599]|not provided [RCV000599426] Chr9:133352446 [GRCh38]
Chr9:136219301 [GRCh37]
Chr9:9q34.2
pathogenic
SURF1, 1-BP INS, 868T insertion Mitochondrial complex IV deficiency [RCV000013600] Chr9:9q34 pathogenic
NM_003172.4(SURF1):c.515+2T>G single nucleotide variant Mitochondrial complex IV deficiency [RCV000013601] Chr9:133353747 [GRCh38]
Chr9:136220602 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.550_551del (p.Arg184fs) deletion Mitochondrial complex IV deficiency [RCV000013602] Chr9:133352731..133352732 [GRCh38]
Chr9:136219586..136219587 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.820T>G (p.Tyr274Asp) single nucleotide variant Mitochondrial complex IV deficiency [RCV000013603] Chr9:133352074 [GRCh38]
Chr9:136218929 [GRCh37]
Chr9:9q34.2
pathogenic
SURF1, 2-BP DEL, 790AG deletion Congenital myasthenic syndrome, acetazolamide-responsive [RCV000013604]|Cytochrome-c oxidase deficiency [RCV000013605]|Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency [RCV000013605]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000013604] Chr9:9q34 pathogenic
NM_003172.4(SURF1):c.371G>A (p.Gly124Glu) single nucleotide variant Mitochondrial complex IV deficiency [RCV000013606] Chr9:133353893 [GRCh38]
Chr9:136220748 [GRCh37]
Chr9:9q34.2
pathogenic
SURF1, 4-BP INS, 572CCCT insertion Mitochondrial complex IV deficiency [RCV000013607] Chr9:9q34 pathogenic
NM_003172.4(SURF1):c.845_846del (p.Ser282fs) microsatellite Cerebellar ataxia [RCV000626844]|Inborn genetic diseases [RCV000624533]|Leigh syndrome [RCV000331329]|Leigh syndrome due to mitochondrial complex IV deficiency [RCV000500935]|Mitochondrial complex IV deficiency [RCV000013608]|not provided [RCV000197896] Chr9:133351970..133351971 [GRCh38]
Chr9:136218825..136218826 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs) duplication Leigh syndrome [RCV000543189] Chr9:133356415..133356416 [GRCh38]
Chr9:136223291..136223292 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.679T>C (p.Trp227Arg) single nucleotide variant Mitochondrial complex IV deficiency [RCV000022780] Chr9:133352518 [GRCh38]
Chr9:136219373 [GRCh37]
Chr9:135209194 [NCBI36]
Chr9:9q34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.2(chr9:131406683-133852779)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053812]|See cases [RCV000053812] Chr9:131406683..133852779 [GRCh38]
Chr9:134282070..136717901 [GRCh37]
Chr9:133271891..135707722 [NCBI36]
Chr9:9q34.13-34.2
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) duplication Charcot-Marie-Tooth disease, type 4k [RCV000662036]|Leigh syndrome [RCV000662037]|not provided [RCV001090695] Chr9:133352079..133352080 [GRCh38]
Chr9:136218934..136218935 [GRCh37]
Chr9:9q34.2
pathogenic|uncertain significance
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) single nucleotide variant Leigh syndrome [RCV001080443]|none provided [RCV001001691]|not provided [RCV000424363] Chr9:133354897 [GRCh38]
Chr9:136221752 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.280T>C (p.Leu94=) single nucleotide variant Leigh syndrome [RCV000359434]|not provided [RCV000676734]|not specified [RCV000128340] Chr9:133354702 [GRCh38]
Chr9:136221557 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.573C>G (p.Thr191=) single nucleotide variant Leigh syndrome [RCV000298807]|not provided [RCV000676733]|not specified [RCV000128341] Chr9:133352709 [GRCh38]
Chr9:136219564 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.604G>C (p.Asp202His) single nucleotide variant Leigh syndrome [RCV000394086]|not provided [RCV000999265]|not specified [RCV000128342] Chr9:133352593 [GRCh38]
Chr9:136219448 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003172.4(SURF1):c.751+6T>C single nucleotide variant Leigh syndrome [RCV001080444]|none provided [RCV001001690]|not provided [RCV000427963]|not specified [RCV000128343] Chr9:133352440 [GRCh38]
Chr9:136219295 [GRCh37]
Chr9:9q34.2
benign
NM_003172.3(SURF1):c.-37C>T single nucleotide variant Leigh syndrome [RCV000286961]|not specified [RCV000128344] Chr9:133356490 [GRCh38]
Chr9:136223366 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.54+9C>G single nucleotide variant Leigh syndrome [RCV000383935]|not specified [RCV000128345] Chr9:133356391 [GRCh38]
Chr9:136223267 [GRCh37]
Chr9:9q34.2
benign|uncertain significance
NM_003172.4(SURF1):c.54+10G>A single nucleotide variant Leigh syndrome [RCV000329138]|none provided [RCV001286177]|not provided [RCV000676736]|not specified [RCV000128346] Chr9:133356390 [GRCh38]
Chr9:136223266 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del) deletion Leigh syndrome [RCV001291661] Chr9:133352716..133352733 [GRCh38]
Chr9:136219571..136219588 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3 copy number gain See cases [RCV000133778] Chr9:130513207..138124532 [GRCh38]
Chr9:133388594..141018984 [GRCh37]
Chr9:132378415..140138805 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3 copy number gain See cases [RCV000136790] Chr9:132986903..138114463 [GRCh38]
Chr9:135862290..141008915 [GRCh37]
Chr9:134852111..140128736 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3 copy number gain See cases [RCV000142636] Chr9:132386553..138059695 [GRCh38]
Chr9:135261940..140954147 [GRCh37]
Chr9:134251761..140073968 [NCBI36]
Chr9:9q34.13-34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.799_800del (p.Leu267fs) microsatellite Charcot-Marie-Tooth disease, type 4k [RCV000202439] Chr9:133352094..133352095 [GRCh38]
Chr9:136218949..136218950 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.107-2A>G single nucleotide variant Charcot-Marie-Tooth disease, type 4k [RCV000202482]|not provided [RCV001090696] Chr9:133354959 [GRCh38]
Chr9:136221814 [GRCh37]
Chr9:9q34.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.752-1G>C single nucleotide variant Leigh syndrome [RCV000578241] Chr9:133352143 [GRCh38]
Chr9:136218998 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.54+34_55-26del deletion not specified [RCV000200184] Chr9:133356346..133356366 [GRCh38]
Chr9:136223201..136223221 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.409C>T (p.Arg137Trp) single nucleotide variant Leigh syndrome [RCV001168010]|not provided [RCV000200389] Chr9:133353855 [GRCh38]
Chr9:136220710 [GRCh37]
Chr9:9q34.2
likely pathogenic|uncertain significance
NM_003172.4(SURF1):c.543C>T (p.Phe181=) single nucleotide variant Leigh syndrome [RCV000353708]|not provided [RCV000590784]|not specified [RCV000196556] Chr9:133352739 [GRCh38]
Chr9:136219594 [GRCh37]
Chr9:9q34.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.322G>A (p.Asp108Asn) single nucleotide variant Leigh syndrome [RCV001168781]|not provided [RCV000196614] Chr9:133354660 [GRCh38]
Chr9:136221515 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.589-1G>T single nucleotide variant not provided [RCV000200597] Chr9:133352609 [GRCh38]
Chr9:136219464 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) single nucleotide variant not specified [RCV000196753] Chr9:133356437 [GRCh38]
Chr9:136223313 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) single nucleotide variant Leigh syndrome [RCV001215689]|not provided [RCV000196814] Chr9:133352719 [GRCh38]
Chr9:136219574 [GRCh37]
Chr9:9q34.2
likely pathogenic|uncertain significance
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) indel Leigh syndrome [RCV000235063]|Leigh syndrome [RCV000763191]|Mitochondrial complex IV deficiency [RCV000013596]|not provided [RCV000197023] Chr9:133354661..133354670 [GRCh38]
Chr9:136221516..136221525 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) single nucleotide variant Leigh syndrome [RCV000699472]|not specified [RCV000197757] Chr9:133352452 [GRCh38]
Chr9:136219307 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_003172.4(SURF1):c.106+1G>C single nucleotide variant Leigh syndrome [RCV000196131] Chr9:133356268 [GRCh38]
Chr9:136223123 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.3(SURF1):c.845_846delCT (p.Ser282Cysfs) deletion not provided [RCV000197896] Chr9:133351970..133351971 [GRCh38]
Chr9:136218825..136218826 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr) indel not provided [RCV000198114] Chr9:133353882..133353884 [GRCh38]
Chr9:136220737..136220739 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.324-11T>G single nucleotide variant not provided [RCV000198496] Chr9:133353951 [GRCh38]
Chr9:136220806 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.40G>A (p.Ala14Thr) single nucleotide variant not specified [RCV000198640] Chr9:133356414 [GRCh38]
Chr9:136223290 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) microsatellite Leigh syndrome [RCV000534608]|Mitochondrial complex IV deficiency [RCV000013605]|not provided [RCV000198901] Chr9:133352101..133352102 [GRCh38]
Chr9:136218956..136218957 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) deletion Leigh syndrome [RCV000258857]|not provided [RCV000199102] Chr9:133356441..133356464 [GRCh38]
Chr9:136223317..136223340 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) single nucleotide variant Charcot-Marie-Tooth disease, type 4k [RCV000202523]|Leigh syndrome [RCV000631410]|not provided [RCV000199387] Chr9:133352708 [GRCh38]
Chr9:136219563 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.889A>C (p.Thr297Pro) single nucleotide variant not specified [RCV000199642] Chr9:133351927 [GRCh38]
Chr9:136218782 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) duplication Leigh syndrome [RCV000820421]|not provided [RCV000196024] Chr9:133352075..133352076 [GRCh38]
Chr9:136218930..136218931 [GRCh37]
Chr9:9q34.2
likely pathogenic|uncertain significance
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) single nucleotide variant Leigh syndrome [RCV000235079]|not provided [RCV000578885] Chr9:133352696 [GRCh38]
Chr9:136219551 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.350A>C (p.Tyr117Ser) single nucleotide variant Leigh syndrome [RCV000631403]|not provided [RCV000224641] Chr9:133353914 [GRCh38]
Chr9:136220769 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter) single nucleotide variant Leigh syndrome [RCV000631405]|not provided [RCV000321649] Chr9:133352509 [GRCh38]
Chr9:136219364 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.352A>T (p.Arg118Trp) single nucleotide variant Leigh syndrome [RCV000323407] Chr9:133353912 [GRCh38]
Chr9:136220767 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) microsatellite Leigh syndrome [RCV000312508] Chr9:133352139..133352140 [GRCh38]
Chr9:136218994..136218995 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) single nucleotide variant Leigh syndrome [RCV000264670]|not provided [RCV001354540]|not specified [RCV000507001] Chr9:133354853 [GRCh38]
Chr9:136221708 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003172.4(SURF1):c.643C>G (p.Pro215Ala) single nucleotide variant Leigh syndrome [RCV000367139] Chr9:133352554 [GRCh38]
Chr9:136219409 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.366C>T (p.Val122=) single nucleotide variant Leigh syndrome [RCV000268062] Chr9:133353898 [GRCh38]
Chr9:136220753 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.32T>C (p.Leu11Pro) single nucleotide variant Leigh syndrome [RCV001368059] Chr9:133356422 [GRCh38]
Chr9:136223298 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.751+4C>T single nucleotide variant not provided [RCV000578903] Chr9:133352442 [GRCh38]
Chr9:136219297 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.870dup (p.Lys291Ter) duplication Inborn genetic diseases [RCV000622343] Chr9:133351945..133351946 [GRCh38]
Chr9:136218800..136218801 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.897del (p.Val300fs) deletion Leigh syndrome [RCV000801485]|not provided [RCV000588103] Chr9:133351919 [GRCh38]
Chr9:136218774 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.36G>A (p.Arg12=) single nucleotide variant not specified [RCV000588845] Chr9:133356418 [GRCh38]
Chr9:136223294 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_003172.4(SURF1):c.118A>T (p.Arg40Trp) single nucleotide variant Leigh syndrome [RCV000555174] Chr9:133354946 [GRCh38]
Chr9:136221801 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.54+13TGCGGGG[5] microsatellite not provided [RCV000589405] Chr9:133356366..133356367 [GRCh38]
Chr9:136223221..136223222 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.240G>C (p.Gln80His) single nucleotide variant Inborn genetic diseases [RCV000623972] Chr9:133354824 [GRCh38]
Chr9:136221679 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.532_535del (p.Asn178fs) deletion Leigh syndrome [RCV001290556]|not provided [RCV000414638] Chr9:133352747..133352750 [GRCh38]
Chr9:136219602..136219605 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.751+5G>A single nucleotide variant Cerebellar ataxia [RCV000626843]|not provided [RCV000413105] Chr9:133352441 [GRCh38]
Chr9:136219296 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) microsatellite Leigh syndrome [RCV000586290]|not provided [RCV000413343] Chr9:133352135..133352136 [GRCh38]
Chr9:136218990..136218991 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3
pathogenic
GRCh37/hg19 9q34.13-34.2(chr9:135797171-136245956)x3 copy number gain See cases [RCV000447436] Chr9:135797171..136245956 [GRCh37]
Chr9:9q34.13-34.2
uncertain significance
NM_003172.4(SURF1):c.107-19G>A single nucleotide variant not specified [RCV000438078] Chr9:133354976 [GRCh38]
Chr9:136221831 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.834-13T>C single nucleotide variant not specified [RCV000418483] Chr9:133351995 [GRCh38]
Chr9:136218850 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.657G>A (p.Glu219=) single nucleotide variant Leigh syndrome [RCV001430493]|not specified [RCV000424891] Chr9:133352540 [GRCh38]
Chr9:136219395 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.833+3G>A single nucleotide variant not specified [RCV000428492] Chr9:133352058 [GRCh38]
Chr9:136218913 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.240+1G>T single nucleotide variant Leigh syndrome [RCV001260417]|not provided [RCV000422985] Chr9:133354823 [GRCh38]
Chr9:136221678 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.833+13C>T single nucleotide variant not specified [RCV000435827] Chr9:133352048 [GRCh38]
Chr9:136218903 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) single nucleotide variant Leigh syndrome [RCV001084113]|not provided [RCV000586110]|not specified [RCV000439404] Chr9:133351933 [GRCh38]
Chr9:136218788 [GRCh37]
Chr9:9q34.2
benign|likely benign
NM_003172.4(SURF1):c.516-8T>C single nucleotide variant not specified [RCV000444166] Chr9:133352774 [GRCh38]
Chr9:136219629 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.240+9C>T single nucleotide variant not specified [RCV000444395] Chr9:133354815 [GRCh38]
Chr9:136221670 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) single nucleotide variant Leigh syndrome [RCV001379593]|not provided [RCV000437222] Chr9:133354713 [GRCh38]
Chr9:136221568 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.241-7A>C single nucleotide variant not provided [RCV000978359]|not specified [RCV000444496] Chr9:133354748 [GRCh38]
Chr9:136221603 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.-25G>A single nucleotide variant not specified [RCV000430770] Chr9:133356478 [GRCh38]
Chr9:136223354 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.447C>T (p.Gly149=) single nucleotide variant not specified [RCV000444716] Chr9:133353817 [GRCh38]
Chr9:136220672 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.681G>A (p.Trp227Ter) single nucleotide variant not provided [RCV000440906] Chr9:133352516 [GRCh38]
Chr9:136219371 [GRCh37]
Chr9:9q34.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3
pathogenic
NM_003172.4(SURF1):c.54+9_54+22del deletion Leigh syndrome [RCV000531800]|not specified [RCV000483880] Chr9:133356378..133356391 [GRCh38]
Chr9:136223254..136223267 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) duplication not provided [RCV000484632] Chr9:133352071..133352072 [GRCh38]
Chr9:136218926..136218927 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) insertion Leigh syndrome [RCV001193160]|not provided [RCV000478177] Chr9:133352707..133352708 [GRCh38]
Chr9:136219562..136219563 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
NM_003172.4(SURF1):c.303G>A (p.Glu101=) single nucleotide variant Leigh syndrome [RCV000554402] Chr9:133354679 [GRCh38]
Chr9:136221534 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.534_535del (p.Asn178fs) deletion not provided [RCV000498201] Chr9:133352747..133352748 [GRCh38]
Chr9:136219602..136219603 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.771_773delinsG (p.Pro258fs) indel not provided [RCV000493316] Chr9:133352121..133352123 [GRCh38]
Chr9:136218976..136218978 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.759dup (p.Val254fs) duplication Leigh syndrome [RCV000560693] Chr9:133352134..133352135 [GRCh38]
Chr9:136218989..136218990 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.826G>A (p.Val276Met) single nucleotide variant Inborn genetic diseases [RCV000623467]|Leigh syndrome [RCV001248476] Chr9:133352068 [GRCh38]
Chr9:136218923 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.736A>G (p.Ile246Val) single nucleotide variant Leigh syndrome [RCV000631408] Chr9:133352461 [GRCh38]
Chr9:136219316 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.752-4dup duplication Leigh syndrome [RCV000631406] Chr9:133352145..133352146 [GRCh38]
Chr9:136219000..136219001 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 copy number loss mTOR Inhibitor response [RCV000626442] Chr9:135377559..141213431 [GRCh37]
Chr9:9q34.13-34.3
drug response
NM_003172.4(SURF1):c.687T>C (p.Tyr229=) single nucleotide variant Leigh syndrome [RCV000631413] Chr9:133352510 [GRCh38]
Chr9:136219365 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.324-10_324-9insAGA insertion Leigh syndrome [RCV000631411] Chr9:133353949..133353950 [GRCh38]
Chr9:136220804..136220805 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.796dup (p.Thr266fs) duplication not provided [RCV000627562] Chr9:133352097..133352098 [GRCh38]
Chr9:136218952..136218953 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.893C>G (p.Pro298Arg) single nucleotide variant Leigh syndrome [RCV000631407] Chr9:133351923 [GRCh38]
Chr9:136218778 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.808G>A (p.Glu270Lys) single nucleotide variant Leigh syndrome [RCV000631404] Chr9:133352086 [GRCh38]
Chr9:136218941 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.900G>C (p.Val300=) single nucleotide variant Leigh syndrome [RCV000924099]|not specified [RCV000616919] Chr9:133351916 [GRCh38]
Chr9:136218771 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.241-7A>G single nucleotide variant not specified [RCV000614026] Chr9:133354748 [GRCh38]
Chr9:136221603 [GRCh37]
Chr9:9q34.2
likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs) insertion not provided [RCV000512891] Chr9:133354670..133354671 [GRCh38]
Chr9:136221525..136221526 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) deletion Leigh syndrome [RCV000587221] Chr9:133352565..133352566 [GRCh38]
Chr9:136219420..136219421 [GRCh37]
Chr9:9q34.2
pathogenic|likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del) deletion not provided [RCV000513441] Chr9:133354661..133354669 [GRCh38]
Chr9:136221516..136221524 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.108G>A (p.Gly36=) single nucleotide variant not specified [RCV000606861] Chr9:133354956 [GRCh38]
Chr9:136221811 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.603G>A (p.Val201=) single nucleotide variant Leigh syndrome [RCV001412613]|not provided [RCV000631412] Chr9:133352594 [GRCh38]
Chr9:136219449 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.588+1G>A single nucleotide variant Leigh syndrome [RCV000662348] Chr9:133352693 [GRCh38]
Chr9:136219548 [GRCh37]
Chr9:9q34.2
not provided
NM_003172.4(SURF1):c.54+30_54+31insCC insertion not provided [RCV000676735] Chr9:133356369..133356370 [GRCh38]
Chr9:136223245..136223246 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.834-5C>T single nucleotide variant not provided [RCV000676732] Chr9:133351987 [GRCh38]
Chr9:136218842 [GRCh37]
Chr9:9q34.2
likely benign
GRCh37/hg19 9q34.13-34.3(chr9:135105971-141020389)x3 copy number gain not provided [RCV000683160] Chr9:135105971..141020389 [GRCh37]
Chr9:9q34.13-34.3
pathogenic
NM_003172.4(SURF1):c.185T>G (p.Leu62Arg) single nucleotide variant Leigh syndrome [RCV000704099] Chr9:133354879 [GRCh38]
Chr9:136221734 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) duplication Leigh syndrome [RCV000689337] Chr9:133352067..133352068 [GRCh38]
Chr9:136218922..136218923 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.833+1G>A single nucleotide variant Leigh syndrome [RCV000735985]|not specified [RCV000781906] Chr9:133352060 [GRCh38]
Chr9:136218915 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.772C>T (p.Pro258Ser) single nucleotide variant Leigh syndrome [RCV000754102] Chr9:133352122 [GRCh38]
Chr9:136218977 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) single nucleotide variant Leigh syndrome [RCV000754103] Chr9:133352750 [GRCh38]
Chr9:136219605 [GRCh37]
Chr9:9q34.2
pathogenic|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.465_466del (p.Thr156fs) deletion Leigh syndrome [RCV000754104] Chr9:133353798..133353799 [GRCh38]
Chr9:136220653..136220654 [GRCh37]
Chr9:9q34.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.516-140G>A single nucleotide variant not provided [RCV001571870] Chr9:133352906 [GRCh38]
Chr9:136219761 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.855A>G (p.Thr285=) single nucleotide variant Leigh syndrome [RCV000940036] Chr9:133351961 [GRCh38]
Chr9:136218816 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs) duplication Leigh syndrome [RCV000988284] Chr9:133356426..133356427 [GRCh38]
Chr9:136223302..136223303 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.555_556del (p.Lys186fs) deletion Leigh syndrome [RCV001051443] Chr9:133352726..133352727 [GRCh38]
Chr9:136219581..136219582 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.591T>A (p.Ile197=) single nucleotide variant Leigh syndrome [RCV001061584] Chr9:133352606 [GRCh38]
Chr9:136219461 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.*93C>T single nucleotide variant Leigh syndrome [RCV001165817] Chr9:133351820 [GRCh38]
Chr9:136218675 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.801G>A (p.Leu267=) single nucleotide variant Leigh syndrome [RCV001165820] Chr9:133352093 [GRCh38]
Chr9:136218948 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.577C>G (p.Gln193Glu) single nucleotide variant not provided [RCV000999266] Chr9:133352705 [GRCh38]
Chr9:136219560 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.720C>A (p.Gly240=) single nucleotide variant not provided [RCV000923029] Chr9:133352477 [GRCh38]
Chr9:136219332 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.240+6G>A single nucleotide variant Leigh syndrome [RCV001521521]|not provided [RCV000877326] Chr9:133354818 [GRCh38]
Chr9:136221673 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.525C>T (p.Ile175=) single nucleotide variant not provided [RCV000949759] Chr9:133352757 [GRCh38]
Chr9:136219612 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter) single nucleotide variant Leigh syndrome [RCV000785948] Chr9:133353760 [GRCh38]
Chr9:136220615 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.15T>G (p.Ala5=) single nucleotide variant not specified [RCV000781904] Chr9:133356439 [GRCh38]
Chr9:136223315 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu) single nucleotide variant not specified [RCV000781905] Chr9:133356437 [GRCh38]
Chr9:136223313 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.516-2A>G single nucleotide variant Leigh syndrome [RCV001242611]|not specified [RCV000780770] Chr9:133352768 [GRCh38]
Chr9:136219623 [GRCh37]
Chr9:9q34.2
pathogenic
NC_000009.11:g.(?_134379574)_(138678377_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV000807925] Chr9:134379574..138678377 [GRCh37]
Chr9:9q34.13-34.3
uncertain significance
NM_003172.4(SURF1):c.823A>C (p.Ile275Leu) single nucleotide variant Leigh syndrome [RCV000799005] Chr9:133352071 [GRCh38]
Chr9:136218926 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_003172.4(SURF1):c.323+229G>A single nucleotide variant not provided [RCV000833088] Chr9:133354430 [GRCh38]
Chr9:136221285 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.*47G>A single nucleotide variant Leigh syndrome [RCV001165818]|not provided [RCV001562775] Chr9:133351866 [GRCh38]
Chr9:136218721 [GRCh37]
Chr9:9q34.2
likely benign|uncertain significance
NM_003172.4(SURF1):c.437C>T (p.Ala146Val) single nucleotide variant Leigh syndrome [RCV001168009] Chr9:133353827 [GRCh38]
Chr9:136220682 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.439C>T (p.Arg147Trp) single nucleotide variant Leigh syndrome [RCV001050771] Chr9:133353825 [GRCh38]
Chr9:136220680 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.323+20C>A single nucleotide variant not provided [RCV000828657] Chr9:133354639 [GRCh38]
Chr9:136221494 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.281dup (p.Leu94fs) duplication Leigh syndrome [RCV000797278] Chr9:133354700..133354701 [GRCh38]
Chr9:136221555..136221556 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) duplication Leigh syndrome [RCV000790941] Chr9:133352098..133352099 [GRCh38]
Chr9:136218953..136218954 [GRCh37]
Chr9:9q34.2
likely pathogenic
NM_003172.4(SURF1):c.106+81G>C single nucleotide variant not provided [RCV000835858] Chr9:133356188 [GRCh38]
Chr9:136223043 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.629C>T (p.Thr210Ile) single nucleotide variant Leigh syndrome [RCV001167393] Chr9:133352568 [GRCh38]
Chr9:136219423 [GRCh37]
Chr9:9q34.2
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NC_000009.11:g.(?_135771602)_(136769889_?)dup duplication Tuberous sclerosis 1 [RCV001033460] Chr9:135771602..136769889 [GRCh37]
Chr9:9q34.13-34.2
uncertain significance
NC_000009.11:g.(?_135771850)_(137038881_?)dup duplication Tuberous sclerosis 1 [RCV001033564] Chr9:135771850..137038881 [GRCh37]
Chr9:9q34.13-34.2
uncertain significance
NM_003172.4(SURF1):c.516-279C>A single nucleotide variant not provided [RCV001544583] Chr9:133353045 [GRCh38]
Chr9:136219900 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.183_186del (p.Leu62fs) deletion Leigh syndrome [RCV001193158] Chr9:133354878..133354881 [GRCh38]
Chr9:136221733..136221736 [GRCh37]
Chr9:9q34.2
likely pathogenic
NC_000009.12:g.133356522_133356523del deletion not specified [RCV001193159] Chr9:133356522..133356523 [GRCh38]
Chr9:136223398..136223399 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.815_825dup (p.Val276fs) duplication Leigh syndrome [RCV001215424] Chr9:133352068..133352069 [GRCh38]
Chr9:136218923..136218924 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.328A>G (p.Met110Val) single nucleotide variant Leigh syndrome [RCV001168780] Chr9:133353936 [GRCh38]
Chr9:136220791 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.508G>A (p.Asp170Asn) single nucleotide variant not provided [RCV001532651] Chr9:133353756 [GRCh38]
Chr9:136220611 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.321C>T (p.Ala107=) single nucleotide variant Leigh syndrome [RCV000874503] Chr9:133354661 [GRCh38]
Chr9:136221516 [GRCh37]
Chr9:9q34.2
likely benign|conflicting interpretations of pathogenicity
NM_003172.4(SURF1):c.834G>A (p.Trp278Ter) single nucleotide variant Leigh syndrome [RCV001193157] Chr9:133351982 [GRCh38]
Chr9:136218837 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.84C>T (p.Val28=) single nucleotide variant Leigh syndrome [RCV001461752]|not provided [RCV000935544] Chr9:133356291 [GRCh38]
Chr9:136223146 [GRCh37]
Chr9:9q34.2
likely benign
NM_017503.5(SURF2):c.-23G>C single nucleotide variant not provided [RCV001563173] Chr9:133356570 [GRCh38]
Chr9:136223446 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter) single nucleotide variant Leigh syndrome [RCV000988283] Chr9:133354828 [GRCh38]
Chr9:136221683 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.516-213G>C single nucleotide variant not provided [RCV001565452] Chr9:133352979 [GRCh38]
Chr9:136219834 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.226T>C (p.Leu76=) single nucleotide variant Leigh syndrome [RCV001168782] Chr9:133354838 [GRCh38]
Chr9:136221693 [GRCh37]
Chr9:9q34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_003172.4(SURF1):c.804G>C (p.Arg268Ser) single nucleotide variant Leigh syndrome [RCV001059308] Chr9:133352090 [GRCh38]
Chr9:136218945 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.251G>C (p.Arg84Pro) single nucleotide variant Leigh syndrome [RCV001071486] Chr9:133354731 [GRCh38]
Chr9:136221586 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.706G>A (p.Ala236Thr) single nucleotide variant Leigh syndrome [RCV001167392] Chr9:133352491 [GRCh38]
Chr9:136219346 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.243C>G (p.Val81=) single nucleotide variant not provided [RCV001200195] Chr9:133354739 [GRCh38]
Chr9:136221594 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.106+15C>G single nucleotide variant Leigh syndrome [RCV001165890] Chr9:133356254 [GRCh38]
Chr9:136223109 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.412A>C (p.Thr138Pro) single nucleotide variant Leigh syndrome [RCV001229292] Chr9:133353852 [GRCh38]
Chr9:136220707 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.507C>T (p.Thr169=) single nucleotide variant Leigh syndrome [RCV001168008] Chr9:133353757 [GRCh38]
Chr9:136220612 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.*118T>C single nucleotide variant Leigh syndrome [RCV001165816] Chr9:133351795 [GRCh38]
Chr9:136218650 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.836A>G (p.Tyr279Cys) single nucleotide variant Leigh syndrome [RCV001165819] Chr9:133351980 [GRCh38]
Chr9:136218835 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.342T>A (p.Asn114Lys) single nucleotide variant Leigh syndrome [RCV001350237] Chr9:133353922 [GRCh38]
Chr9:136220777 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.898G>A (p.Val300Met) single nucleotide variant Inborn genetic diseases [RCV001265892] Chr9:133351918 [GRCh38]
Chr9:136218773 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.312_317del (p.Leu105_Pro106del) deletion not provided [RCV001268280] Chr9:133354665..133354670 [GRCh38]
Chr9:136221520..136221525 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.320_321del (p.Ala107fs) deletion not provided [RCV001268278] Chr9:133354661..133354662 [GRCh38]
Chr9:136221516..136221517 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.319G>T (p.Ala107Ser) single nucleotide variant not provided [RCV001268279] Chr9:133354663 [GRCh38]
Chr9:136221518 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.808_812del (p.Glu270fs) deletion Leigh syndrome [RCV001261540]|Mitochondrial complex IV deficiency [RCV001260238]   pathogenic|uncertain significance
NM_003172.4(SURF1):c.750C>G (p.Phe250Leu) single nucleotide variant Leigh syndrome [RCV001298240] Chr9:133352447 [GRCh38]
Chr9:136219302 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.596G>A (p.Gly199Glu) single nucleotide variant Leigh syndrome [RCV001338755] Chr9:133352601 [GRCh38]
Chr9:136219456 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.378T>G (p.Phe126Leu) single nucleotide variant Charcot-Marie-Tooth disease, type 4k [RCV001336023] Chr9:133353886 [GRCh38]
Chr9:136220741 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.856T>G (p.Ser286Ala) single nucleotide variant Leigh syndrome [RCV001369526] Chr9:133351960 [GRCh38]
Chr9:136218815 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.54+9_54+29del deletion Leigh syndrome [RCV001422880] Chr9:133356371..133356391 [GRCh38]
Chr9:136223247..136223267 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.884G>T (p.Arg295Leu) single nucleotide variant Leigh syndrome [RCV001351957] Chr9:133351932 [GRCh38]
Chr9:136218787 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.97C>G (p.Pro33Ala) single nucleotide variant Leigh syndrome [RCV001320225] Chr9:133356278 [GRCh38]
Chr9:136223133 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.329T>C (p.Met110Thr) single nucleotide variant Leigh syndrome [RCV001350015] Chr9:133353935 [GRCh38]
Chr9:136220790 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.500A>G (p.His167Arg) single nucleotide variant Leigh syndrome [RCV001343258] Chr9:133353764 [GRCh38]
Chr9:136220619 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.850G>A (p.Ala284Thr) single nucleotide variant Leigh syndrome [RCV001336545] Chr9:133351966 [GRCh38]
Chr9:136218821 [GRCh37]
Chr9:9q34.2
uncertain significance
NM_003172.4(SURF1):c.225C>T (p.Gly75=) single nucleotide variant Leigh syndrome [RCV001413198] Chr9:133354839 [GRCh38]
Chr9:136221694 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.708C>A (p.Ala236=) single nucleotide variant Leigh syndrome [RCV001492794] Chr9:133352489 [GRCh38]
Chr9:136219344 [GRCh37]
Chr9:9q34.2
likely benign
Single allele variation not provided [RCV001538271] Chr9:133351736 [GRCh38]
Chr9:136218591 [GRCh37]
Chr9:9q34.2
benign
NM_003172.4(SURF1):c.882A>G (p.Leu294=) single nucleotide variant Leigh syndrome [RCV001446816] Chr9:133351934 [GRCh38]
Chr9:136218789 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.55-4G>C single nucleotide variant Leigh syndrome [RCV001419301] Chr9:133356324 [GRCh38]
Chr9:136223179 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.825C>T (p.Ile275=) single nucleotide variant Leigh syndrome [RCV001472355] Chr9:133352069 [GRCh38]
Chr9:136218924 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.367_368del (p.Arg123fs) deletion not provided [RCV001539795] Chr9:133353896..133353897 [GRCh38]
Chr9:136220751..136220752 [GRCh37]
Chr9:9q34.2
pathogenic
NM_003172.4(SURF1):c.6G>A (p.Ala2=) single nucleotide variant Leigh syndrome [RCV001477031] Chr9:133356448 [GRCh38]
Chr9:136223324 [GRCh37]
Chr9:9q34.2
likely benign
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) single nucleotide variant Leigh syndrome [RCV001399689] Chr9:133354853 [GRCh38]
Chr9:136221708 [GRCh37]
Chr9:9q34.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11474 AgrOrtholog
COSMIC SURF1 COSMIC
Ensembl Genes ENSG00000148290 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000280627 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000361042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000482067 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000487158 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000371974 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000615505 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000626663 UniProtKB/Swiss-Prot
GTEx ENSG00000148290 GTEx
  ENSG00000280627 GTEx
HGNC ID HGNC:11474 ENTREZGENE
Human Proteome Map SURF1 Human Proteome Map
InterPro Surf1/Shy1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6834 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6834 ENTREZGENE
OMIM 185620 OMIM
  220110 OMIM
  616684 OMIM
Pfam SURF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36259 PharmGKB
PROSITE SURF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYS9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4J4_HUMAN UniProtKB/TrEMBL
  A0A0S2Z523_HUMAN UniProtKB/TrEMBL
  E5KRX5 ENTREZGENE, UniProtKB/TrEMBL
  Q15526 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q5T8T3 UniProtKB/Swiss-Prot
  Q5T8T4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 SURF1  SURF1 cytochrome c oxidase assembly factor  SURF1  SURF1, cytochrome c oxidase assembly factor  Symbol and/or name change 5135510 APPROVED
2016-09-02 SURF1  SURF1, cytochrome c oxidase assembly factor  SURF1  surfeit 1  Symbol and/or name change 5135510 APPROVED