ETFA (electron transfer flavoprotein subunit alpha) - Rat Genome Database

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Gene: ETFA (electron transfer flavoprotein subunit alpha) Homo sapiens
Analyze
Symbol: ETFA
Name: electron transfer flavoprotein subunit alpha
RGD ID: 1342675
HGNC Page HGNC
Description: Exhibits electron transfer activity and flavin adenine dinucleotide binding activity. Involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase. Localizes to mitochondrion. Implicated in multiple acyl-CoA dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-ETF; electron transfer flavoprotein alpha subunit; electron transfer flavoprotein alpha-subunit; electron transfer flavoprotein subunit alpha, mitochondrial; electron transfer flavoprotein, alpha polypeptide; electron-transfer-flavoprotein alpha polypeptide; EMA; GA2; glutaric aciduria II; MADD
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 Ensembl1576,215,353 - 76,311,472 (-)EnsemblGRCh38hg38GRCh38
GRCh381576,215,353 - 76,311,469 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371576,507,694 - 76,603,810 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361574,295,636 - 74,390,865 (-)NCBINCBI36hg18NCBI36
Build 341574,295,690 - 74,390,784NCBI
Celera1553,434,725 - 53,530,031 (-)NCBI
Cytogenetic Map15q24.2-q24.3NCBI
HuRef1553,265,219 - 53,360,736 (-)NCBIHuRef
CHM1_11576,628,067 - 76,723,216 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
ampicillin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chloropicrin  (EXP)
choline  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cocaine  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenofibrate  (EXP)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
metronidazole  (ISO)
N-nitrosomorpholine  (ISO)
n-propyl gallate  (ISO)
neomycin  (ISO)
nicotine  (ISO)
oxaliplatin  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
pirinixic acid  (EXP,ISO)
propiconazole  (ISO)
resveratrol  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
tetrachloromethane  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (IEA,TAS)
mitochondrion  (HDA,IBA,IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1430199   PMID:1882842   PMID:3053288   PMID:3170610   PMID:7821789   PMID:8617498   PMID:8962055   PMID:9334218   PMID:10356313   PMID:10423253   PMID:10527805   PMID:11756429  
PMID:12477932   PMID:12815589   PMID:15489334   PMID:16344560   PMID:16510302   PMID:17081983   PMID:17314511   PMID:17689999   PMID:18029348   PMID:18624398   PMID:19208393   PMID:20186120  
PMID:20562859   PMID:20674745   PMID:20833797   PMID:20877624   PMID:21081666   PMID:21219902   PMID:21308847   PMID:21873635   PMID:22491018   PMID:22863883   PMID:22939629   PMID:23376485  
PMID:23874603   PMID:24394546   PMID:24606901   PMID:24711643   PMID:25416781   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26465331   PMID:26496610   PMID:26638075   PMID:26839216  
PMID:26871637   PMID:27342126   PMID:27499296   PMID:27609421   PMID:27684187   PMID:28302793   PMID:28320150   PMID:28380382   PMID:28514442   PMID:28533407   PMID:28675297   PMID:28718761  
PMID:29117863   PMID:29128334   PMID:29301933   PMID:29331416   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29568061   PMID:29987050   PMID:30194290   PMID:30463901  
PMID:30575818   PMID:30833792   PMID:30948266   PMID:30997501   PMID:31091453   PMID:31182584   PMID:31418342   PMID:31536960   PMID:31560077   PMID:31586073   PMID:31617661   PMID:31620119  
PMID:31665600   PMID:31996215   PMID:32353859   PMID:32550677   PMID:32694731   PMID:32877691   PMID:33060197   PMID:33957083  


Genomics

Comparative Map Data
ETFA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1576,215,353 - 76,311,472 (-)EnsemblGRCh38hg38GRCh38
GRCh381576,215,353 - 76,311,469 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371576,507,694 - 76,603,810 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361574,295,636 - 74,390,865 (-)NCBINCBI36hg18NCBI36
Build 341574,295,690 - 74,390,784NCBI
Celera1553,434,725 - 53,530,031 (-)NCBI
Cytogenetic Map15q24.2-q24.3NCBI
HuRef1553,265,219 - 53,360,736 (-)NCBIHuRef
CHM1_11576,628,067 - 76,723,216 (-)NCBICHM1_1
Etfa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39955,361,720 - 55,419,528 (-)NCBIGRCm39mm39
GRCm39 Ensembl955,361,792 - 55,419,527 (-)Ensembl
GRCm38955,454,436 - 55,512,243 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl955,454,508 - 55,512,243 (-)EnsemblGRCm38mm10GRCm38
MGSCv37955,302,243 - 55,360,050 (-)NCBIGRCm37mm9NCBIm37
MGSCv36955,252,660 - 55,310,380 (-)NCBImm8
Celera952,696,302 - 52,754,125 (-)NCBICelera
Cytogenetic Map9BNCBI
Etfa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2855,835,115 - 55,891,890 (-)NCBI
Rnor_6.0 Ensembl860,028,789 - 60,086,403 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0860,028,786 - 60,086,352 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0858,608,416 - 58,665,383 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4859,013,798 - 59,072,013 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1859,032,895 - 59,091,022 (-)NCBI
Celera855,318,874 - 55,375,436 (-)NCBICelera
Cytogenetic Map8q24NCBI
Etfa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554501,392,479 - 1,451,591 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554501,392,526 - 1,451,591 (-)NCBIChiLan1.0ChiLan1.0
ETFA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11574,720,198 - 74,818,494 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1574,720,198 - 74,818,494 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01555,128,686 - 55,227,369 (-)NCBIMhudiblu_PPA_v0panPan3
ETFA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13039,848,241 - 39,925,809 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3039,848,270 - 39,964,823 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3039,707,332 - 39,784,202 (+)NCBI
ROS_Cfam_1.03040,052,278 - 40,129,606 (+)NCBI
UMICH_Zoey_3.13040,001,191 - 40,078,170 (+)NCBI
UNSW_CanFamBas_1.03040,047,242 - 40,124,599 (+)NCBI
UU_Cfam_GSD_1.03040,285,034 - 40,362,157 (+)NCBI
Etfa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640118,020,782 - 118,094,606 (+)NCBI
SpeTri2.0NW_00493647135,868,851 - 35,942,662 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ETFA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl756,440,620 - 56,540,253 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1756,450,508 - 56,540,275 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2760,946,251 - 61,036,017 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ETFA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1266,970,593 - 7,075,077 (+)NCBI
ChlSab1.1 Ensembl266,970,584 - 7,076,049 (+)Ensembl
Vero_WHO_p1.0NW_023666048134,642,527 - 134,750,547 (-)NCBI
Etfa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248941,874,859 - 1,935,587 (+)NCBI

Position Markers
STS-J04058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,508,722 - 76,508,907UniSTSGRCh37
Build 361574,295,777 - 74,295,962RGDNCBI36
Celera1553,434,819 - 53,435,004RGD
Cytogenetic Map15q23-q25UniSTS
HuRef1553,265,313 - 53,265,498UniSTS
GeneMap99-GB4 RH Map15268.81UniSTS
D15S922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,517,500 - 76,517,625UniSTSGRCh37
Build 361574,304,555 - 74,304,680RGDNCBI36
Celera1553,443,600 - 53,443,725RGD
Cytogenetic Map15q23-q25UniSTS
HuRef1553,274,094 - 53,274,219UniSTS
Whitehead-RH Map15281.2UniSTS
Whitehead-YAC Contig Map15 UniSTS
STS-H78599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,522,056 - 76,522,197UniSTSGRCh37
Build 361574,309,111 - 74,309,252RGDNCBI36
Celera1553,448,167 - 53,448,308RGD
Cytogenetic Map15q23-q25UniSTS
HuRef1553,278,697 - 53,278,838UniSTS
GeneMap99-GB4 RH Map15263.73UniSTS
WI-18782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,871,237 - 41,871,365UniSTSGRCh37
GRCh371576,549,585 - 76,550,566UniSTSGRCh37
Build 361539,658,529 - 39,658,657RGDNCBI36
Celera1553,475,803 - 53,476,788UniSTS
Celera1518,639,204 - 18,639,332RGD
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q23-q25UniSTS
HuRef1553,306,227 - 53,307,208UniSTS
HuRef1518,719,436 - 18,719,564UniSTS
GeneMap99-GB4 RH Map15147.97UniSTS
Whitehead-RH Map15105.8UniSTS
NCBI RH Map15141.0UniSTS
D15S925  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371576,528,301 - 76,528,486UniSTSGRCh37
Build 361574,315,356 - 74,315,541RGDNCBI36
Celera1553,454,193 - 53,454,378RGD
Cytogenetic Map15q23-q25UniSTS
HuRef1553,284,991 - 53,285,176UniSTS
Whitehead-RH Map15253.7UniSTS
Whitehead-YAC Contig Map15 UniSTS
WI-20018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,871,240 - 41,871,497UniSTSGRCh37
GRCh371576,549,453 - 76,550,564UniSTSGRCh37
Build 361539,658,532 - 39,658,789RGDNCBI36
Celera1553,475,671 - 53,476,786UniSTS
Celera1518,639,207 - 18,639,464RGD
Cytogenetic Map15q23-q25UniSTS
Cytogenetic Map15q15UniSTS
HuRef1518,719,439 - 18,719,696UniSTS
HuRef1553,306,095 - 53,307,206UniSTS
GeneMap99-GB4 RH Map15146.34UniSTS
Whitehead-RH Map1592.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2456
Count of miRNA genes:925
Interacting mature miRNAs:1098
Transcripts:ENST00000267950, ENST00000433983, ENST00000557943, ENST00000557975, ENST00000558803, ENST00000559075, ENST00000559386, ENST00000559602, ENST00000559758, ENST00000559973, ENST00000560044, ENST00000560179, ENST00000560309, ENST00000560345, ENST00000560595, ENST00000560726, ENST00000560816, ENST00000560899, ENST00000561092, ENST00000565910
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2438 2807 1724 624 1819 465 4356 2145 3575 410 1452 1611 175 1 1204 2788 6 2
Low 184 2 132 50 159 8 8 2
Below cutoff 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA557337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG261160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU176141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA838974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000267950   ⟹   ENSP00000267950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,250 - 76,311,448 (-)Ensembl
RefSeq Acc Id: ENST00000433983   ⟹   ENSP00000399273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,084 - 76,311,404 (-)Ensembl
RefSeq Acc Id: ENST00000557943   ⟹   ENSP00000452762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,215,353 - 76,311,469 (-)Ensembl
RefSeq Acc Id: ENST00000557975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,130 - 76,228,249 (-)Ensembl
RefSeq Acc Id: ENST00000558803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,274,133 - 76,283,841 (-)Ensembl
RefSeq Acc Id: ENST00000559075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,230,504 - 76,311,412 (-)Ensembl
RefSeq Acc Id: ENST00000559386   ⟹   ENSP00000452777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,274,483 - 76,311,413 (-)Ensembl
RefSeq Acc Id: ENST00000559602   ⟹   ENSP00000452659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,483 - 76,311,414 (-)Ensembl
RefSeq Acc Id: ENST00000559758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,274,176 - 76,292,622 (-)Ensembl
RefSeq Acc Id: ENST00000559973   ⟹   ENSP00000454194
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,559 - 76,292,491 (-)Ensembl
RefSeq Acc Id: ENST00000560044   ⟹   ENSP00000452942
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,231,378 - 76,311,472 (-)Ensembl
RefSeq Acc Id: ENST00000560179
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,435 - 76,226,335 (-)Ensembl
RefSeq Acc Id: ENST00000560309   ⟹   ENSP00000453753
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,286,406 - 76,311,443 (-)Ensembl
RefSeq Acc Id: ENST00000560345   ⟹   ENSP00000453017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,274,419 - 76,292,698 (-)Ensembl
RefSeq Acc Id: ENST00000560595   ⟹   ENSP00000453345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,583 - 76,311,396 (-)Ensembl
RefSeq Acc Id: ENST00000560726   ⟹   ENSP00000453098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,468 - 76,311,466 (-)Ensembl
RefSeq Acc Id: ENST00000560816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,245,212 - 76,286,491 (-)Ensembl
RefSeq Acc Id: ENST00000560899   ⟹   ENSP00000453422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,225,905 - 76,311,414 (-)Ensembl
RefSeq Acc Id: ENST00000561092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,287,768 - 76,311,402 (-)Ensembl
RefSeq Acc Id: ENST00000565910   ⟹   ENSP00000458001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1576,216,321 - 76,231,398 (-)Ensembl
RefSeq Acc Id: NM_000126   ⟹   NP_000117
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,215,353 - 76,311,469 (-)NCBI
GRCh371576,508,628 - 76,603,810 (-)ENTREZGENE
Build 361574,295,636 - 74,390,865 (-)NCBI Archive
HuRef1553,265,219 - 53,360,736 (-)ENTREZGENE
CHM1_11576,628,067 - 76,723,216 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127716   ⟹   NP_001121188
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,215,353 - 76,311,469 (-)NCBI
GRCh371576,508,628 - 76,603,810 (-)ENTREZGENE
HuRef1553,265,219 - 53,360,736 (-)ENTREZGENE
CHM1_11576,628,067 - 76,723,216 (-)NCBI
Sequence:
RefSeq Acc Id: XR_931766
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381576,216,228 - 76,311,469 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001121188   ⟸   NM_001127716
- Peptide Label: isoform b
- UniProtKB: P13804 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000117   ⟸   NM_000126
- Peptide Label: isoform a
- UniProtKB: P13804 (UniProtKB/Swiss-Prot),   A0A0S2Z3L0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000267950   ⟸   ENST00000267950
RefSeq Acc Id: ENSP00000452762   ⟸   ENST00000557943
RefSeq Acc Id: ENSP00000452777   ⟸   ENST00000559386
RefSeq Acc Id: ENSP00000454194   ⟸   ENST00000559973
RefSeq Acc Id: ENSP00000452659   ⟸   ENST00000559602
RefSeq Acc Id: ENSP00000453345   ⟸   ENST00000560595
RefSeq Acc Id: ENSP00000453753   ⟸   ENST00000560309
RefSeq Acc Id: ENSP00000453017   ⟸   ENST00000560345
RefSeq Acc Id: ENSP00000453422   ⟸   ENST00000560899
RefSeq Acc Id: ENSP00000453098   ⟸   ENST00000560726
RefSeq Acc Id: ENSP00000452942   ⟸   ENST00000560044
RefSeq Acc Id: ENSP00000399273   ⟸   ENST00000433983
RefSeq Acc Id: ENSP00000458001   ⟸   ENST00000565910
Protein Domains
ETF   ETF_alpha

Promoters
RGD ID:6792321
Promoter ID:HG_KWN:21987
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:ENST00000267950,   NM_001127716,   UC002BBU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361574,390,619 - 74,391,119 (-)MPROMDB
RGD ID:6852440
Promoter ID:EP74029
Type:initiation region
Name:HS_ETFA
Description:Electron-transfer-flavoprotein, alpha polypeptide (glutaric II)uria II).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361574,390,802 - 74,390,862EPD
RGD ID:7230183
Promoter ID:EPDNEW_H20837
Type:initiation region
Name:ETFA_1
Description:electron transfer flavoprotein alpha subunit
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
GRCh381576,311,469 - 76,311,529EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ETFA, 3-BP DEL, NT808 deletion Glutaric acidemia IIA [RCV000002714] Chr15:15q23-q25 pathogenic
ETFA, IVS11DS, 1-BP DEL, +1G deletion Glutaric acidemia IIA [RCV000002715] Chr15:15q23-q25 pathogenic
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) single nucleotide variant Glutaric acidemia IIA [RCV000002711] Chr15:76286463 [GRCh38]
Chr15:76578804 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) single nucleotide variant Glutaric acidemia IIA [RCV000002712]|Multiple acyl-CoA dehydrogenase deficiency [RCV000332032]|not provided [RCV000185868] Chr15:76274431 [GRCh38]
Chr15:76566772 [GRCh37]
Chr15:15q24.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) single nucleotide variant Glutaric acidemia IIA [RCV000002713] Chr15:76292436 [GRCh38]
Chr15:76584777 [GRCh37]
Chr15:15q24.2
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
NM_000126.4(ETFA):c.39+12C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000371483]|not specified [RCV000078133] Chr15:76311338 [GRCh38]
Chr15:76603679 [GRCh37]
Chr15:15q24.3
benign
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]|not provided [RCV000676979]|not specified [RCV000078134] Chr15:76286421 [GRCh38]
Chr15:76578762 [GRCh37]
Chr15:15q24.2
benign|likely benign
NM_000126.4(ETFA):c.351+17T>C single nucleotide variant not specified [RCV000124908] Chr15:76292414 [GRCh38]
Chr15:76584755 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.734-20C>A single nucleotide variant not specified [RCV000124910] Chr15:76274514 [GRCh38]
Chr15:76566855 [GRCh37]
Chr15:15q24.2
benign
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1
pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000324694]|not provided [RCV000153198] Chr15:76311387 [GRCh38]
Chr15:76603728 [GRCh37]
Chr15:15q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001228210]|not provided [RCV000254926] Chr15:76285676 [GRCh38]
Chr15:76578017 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.186+7A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000323787]|not provided [RCV000676980]|not specified [RCV000185862] Chr15:76295584 [GRCh38]
Chr15:76587925 [GRCh37]
Chr15:15q24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000320514]|not provided [RCV000726964]|not specified [RCV000185863] Chr15:76286400 [GRCh38]
Chr15:76578741 [GRCh37]
Chr15:15q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.580G>A (p.Val194Met) single nucleotide variant not specified [RCV000185864] Chr15:76285721 [GRCh38]
Chr15:76578062 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000702647] Chr15:76311369 [GRCh38]
Chr15:76603710 [GRCh37]
Chr15:15q24.3
likely benign|uncertain significance
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001241625]|not provided [RCV000185866] Chr15:76292672 [GRCh38]
Chr15:76585013 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.3(ETFA):c.360G>T (p.Leu120Phe) single nucleotide variant not specified [RCV000185867] Chr15:76287937 [GRCh38]
Chr15:76580278 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000527908]|not specified [RCV000185869] Chr15:76231389 [GRCh38]
Chr15:76523730 [GRCh37]
Chr15:15q24.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) single nucleotide variant Glutaric acidemia type 2A [RCV001272688]|Multiple acyl-CoA dehydrogenase deficiency [RCV001081384]|not provided [RCV000224700] Chr15:76287855 [GRCh38]
Chr15:76580196 [GRCh37]
Chr15:15q24.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3 copy number gain See cases [RCV000239983] Chr15:76223116..77023288 [GRCh37]
Chr15:15q24.2-24.3
uncertain significance
NM_000126.4(ETFA):c.21G>C (p.Pro7=) single nucleotide variant not specified [RCV000606269] Chr15:76311368 [GRCh38]
Chr15:76603709 [GRCh37]
Chr15:15q24.3
likely benign
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3
uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_000126.4(ETFA):c.562+11A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000272341]|not specified [RCV000443607] Chr15:76286360 [GRCh38]
Chr15:76578701 [GRCh37]
Chr15:15q24.2
benign|uncertain significance
NM_000126.4(ETFA):c.-71T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000292449] Chr15:76311459 [GRCh38]
Chr15:76603800 [GRCh37]
Chr15:15q24.3
likely benign|uncertain significance
NM_000126.4(ETFA):c.-7G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000279388] Chr15:76311395 [GRCh38]
Chr15:76603736 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.6C>T (p.Phe2=) single nucleotide variant Glutaric acidemia type 2A [RCV001272689]|Multiple acyl-CoA dehydrogenase deficiency [RCV001079275]|not provided [RCV000725409]|not specified [RCV000341012] Chr15:76311383 [GRCh38]
Chr15:76603724 [GRCh37]
Chr15:15q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.*99G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000370060] Chr15:76216460 [GRCh38]
Chr15:76508801 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.-59C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000375267] Chr15:76311447 [GRCh38]
Chr15:76603788 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.367G>A (p.Val123Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000266331] Chr15:76287930 [GRCh38]
Chr15:76580271 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.*216A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000313076] Chr15:76216343 [GRCh38]
Chr15:76508684 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.*55C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000277782] Chr15:76216504 [GRCh38]
Chr15:76508845 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.-56C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000337033] Chr15:76311444 [GRCh38]
Chr15:76603785 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.*268A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000390524] Chr15:76216291 [GRCh38]
Chr15:76508632 [GRCh37]
Chr15:15q24.2
benign|likely benign
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277762] Chr15:76292690 [GRCh38]
Chr15:76585031 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.-9G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001278289] Chr15:76311397 [GRCh38]
Chr15:76603738 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.746G>A (p.Arg249His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000325820] Chr15:76274482 [GRCh38]
Chr15:76566823 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser) single nucleotide variant not specified [RCV000520657] Chr15:76225881 [GRCh38]
Chr15:76518222 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76061143-78265674)x3 copy number gain See cases [RCV000446527] Chr15:76061143..78265674 [GRCh37]
Chr15:15q24.2-24.3
uncertain significance
NM_000126.4(ETFA):c.-40G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001330796]|not specified [RCV000434150] Chr15:76311428 [GRCh38]
Chr15:76603769 [GRCh37]
Chr15:15q24.3
likely benign|uncertain significance
NM_000126.4(ETFA):c.451+14G>A single nucleotide variant not specified [RCV000424816] Chr15:76287832 [GRCh38]
Chr15:76580173 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.186+16G>T single nucleotide variant not specified [RCV000435269] Chr15:76295575 [GRCh38]
Chr15:76587916 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.-42C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001119611]|not specified [RCV000432359] Chr15:76311430 [GRCh38]
Chr15:76603771 [GRCh37]
Chr15:15q24.3
likely benign|uncertain significance
NM_000126.4(ETFA):c.985A>C (p.Ile329Leu) single nucleotide variant not specified [RCV000432839] Chr15:76216576 [GRCh38]
Chr15:76508917 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.-24G>T single nucleotide variant not specified [RCV000443874] Chr15:76311412 [GRCh38]
Chr15:76603753 [GRCh37]
Chr15:15q24.3
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76524284-76625437) copy number loss Abnormality of esophagus morphology [RCV000416799] Chr15:76524284..76625437 [GRCh37]
Chr15:15q24.2-24.3
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000779174]|not provided [RCV000493941] Chr15:76283823 [GRCh38]
Chr15:76576164 [GRCh37]
Chr15:15q24.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000126.4(ETFA):c.30C>T (p.Leu10=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000534010] Chr15:76311359 [GRCh38]
Chr15:76603700 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.452-11del deletion not specified [RCV000600425] Chr15:76286492 [GRCh38]
Chr15:76578833 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.964-20C>G single nucleotide variant not specified [RCV000612313] Chr15:76216617 [GRCh38]
Chr15:76508958 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.-48C>T single nucleotide variant not specified [RCV000601482] Chr15:76311436 [GRCh38]
Chr15:76603777 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.882+20del deletion not specified [RCV000610220] Chr15:76231313 [GRCh38]
Chr15:76523654 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV000534299] Chr15:76286437..76286438 [GRCh38]
Chr15:76578778..76578779 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.-31T>C single nucleotide variant not specified [RCV000614591] Chr15:76311419 [GRCh38]
Chr15:76603760 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.817-12C>T single nucleotide variant not specified [RCV000607578] Chr15:76231410 [GRCh38]
Chr15:76523751 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.882+5T>C single nucleotide variant not specified [RCV000605516] Chr15:76231328 [GRCh38]
Chr15:76523669 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.37G>A (p.Ala13Thr) single nucleotide variant not provided [RCV000513143] Chr15:76311352 [GRCh38]
Chr15:76603693 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000699658] Chr15:76231344 [GRCh38]
Chr15:76523685 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.964-1G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000721997] Chr15:76216598 [GRCh38]
Chr15:76508939 [GRCh37]
Chr15:15q24.2
uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
NM_000126.4(ETFA):c.946G>T (p.Val316Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000707619] Chr15:76225866 [GRCh38]
Chr15:76518207 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000696645] Chr15:76292459 [GRCh38]
Chr15:76584800 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:76408090-76640658)x3 copy number gain not provided [RCV000738824] Chr15:76408090..76640658 [GRCh37]
Chr15:15q24.2-24.3
benign
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3
likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000126.4(ETFA):c.702A>G (p.Leu234=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000973823] Chr15:76283788 [GRCh38]
Chr15:76576129 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.759T>C (p.Asp253=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277757]|not provided [RCV000983292] Chr15:76274469 [GRCh38]
Chr15:76566810 [GRCh37]
Chr15:15q24.2
likely benign|uncertain significance
NM_000126.4(ETFA):c.798G>A (p.Thr266=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001398033]|not provided [RCV000927917] Chr15:76274430 [GRCh38]
Chr15:76566771 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.40-10C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000945721] Chr15:76295747 [GRCh38]
Chr15:76588088 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.720A>G (p.Gln240=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000982193] Chr15:76283770 [GRCh38]
Chr15:76576111 [GRCh37]
Chr15:15q24.2
likely benign|conflicting interpretations of pathogenicity
NM_000126.4(ETFA):c.40-269_40-266del deletion not provided [RCV000844005] Chr15:76296003..76296006 [GRCh38]
Chr15:76588344..76588347 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.816+227A>G single nucleotide variant not provided [RCV000841563] Chr15:76274185 [GRCh38]
Chr15:76566526 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.352-241G>A single nucleotide variant not provided [RCV000841619] Chr15:76288186 [GRCh38]
Chr15:76580527 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.39+234G>A single nucleotide variant not provided [RCV000839685] Chr15:76311116 [GRCh38]
Chr15:76603457 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.186+155G>A single nucleotide variant not provided [RCV000839838] Chr15:76295436 [GRCh38]
Chr15:76587777 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.816+8T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000976820] Chr15:76274404 [GRCh38]
Chr15:76566745 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.882+6T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000798664] Chr15:76231327 [GRCh38]
Chr15:76523668 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.624del (p.Arg209fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV000803822] Chr15:76285677 [GRCh38]
Chr15:76578018 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000809428] Chr15:76295696 [GRCh38]
Chr15:76588037 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.882+54G>T single nucleotide variant not provided [RCV000833050] Chr15:76231279 [GRCh38]
Chr15:76523620 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000824641] Chr15:76295725 [GRCh38]
Chr15:76588066 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.66C>T (p.Thr22=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001118071] Chr15:76295711 [GRCh38]
Chr15:76588052 [GRCh37]
Chr15:15q24.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000824188] Chr15:76295714 [GRCh38]
Chr15:76588055 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.452-268C>T single nucleotide variant not provided [RCV000830647] Chr15:76286749 [GRCh38]
Chr15:76579090 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.733+10T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000982097] Chr15:76283747 [GRCh38]
Chr15:76576088 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.352-261G>A single nucleotide variant not provided [RCV000844006] Chr15:76288206 [GRCh38]
Chr15:76580547 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.40-269A>G single nucleotide variant not provided [RCV000844163] Chr15:76296006 [GRCh38]
Chr15:76588347 [GRCh37]
Chr15:15q24.2
benign
NM_000126.4(ETFA):c.451+253A>G single nucleotide variant not provided [RCV000831729] Chr15:76287593 [GRCh38]
Chr15:76579934 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.342C>T (p.Ala114=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000979472] Chr15:76292440 [GRCh38]
Chr15:76584781 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000795167] Chr15:76286424 [GRCh38]
Chr15:76578765 [GRCh37]
Chr15:15q24.2
uncertain significance
NC_000015.10:g.76311587C>T single nucleotide variant not provided [RCV000835641] Chr15:76311587 [GRCh38]
Chr15:76603928 [GRCh37]
Chr15:15q24.3
benign
NM_000126.4(ETFA):c.882+10C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001116619] Chr15:76231323 [GRCh38]
Chr15:76523664 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001116620] Chr15:76283762 [GRCh38]
Chr15:76576103 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.-71T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001119612] Chr15:76311459 [GRCh38]
Chr15:76603800 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000985194] Chr15:76311382 [GRCh38]
Chr15:76603723 [GRCh37]
Chr15:15q24.3
likely pathogenic
NM_000126.4(ETFA):c.506G>A (p.Arg169His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001242777] Chr15:76286427 [GRCh38]
Chr15:76578768 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.351+12G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001118068] Chr15:76292419 [GRCh38]
Chr15:76584760 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.837A>G (p.Gly279=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000979557] Chr15:76231378 [GRCh38]
Chr15:76523719 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.988T>C (p.Leu330=) single nucleotide variant not provided [RCV000919001] Chr15:76216573 [GRCh38]
Chr15:76508914 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.186+9T>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001446668]|not provided [RCV000979136] Chr15:76295582 [GRCh38]
Chr15:76587923 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) duplication not provided [RCV001092618] Chr15:76311363..76311364 [GRCh38]
Chr15:76603704..76603705 [GRCh37]
Chr15:15q24.3
pathogenic
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001198108] Chr15:76287918 [GRCh38]
Chr15:76580259 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.882+9A>G single nucleotide variant Glutaric acidemia type 2A [RCV001272687]|not provided [RCV000936035] Chr15:76231324 [GRCh38]
Chr15:76523665 [GRCh37]
Chr15:15q24.2
likely benign|uncertain significance
NM_000126.4(ETFA):c.366A>G (p.Arg122=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001118067] Chr15:76287931 [GRCh38]
Chr15:76580272 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.78T>C (p.Ala26=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001118070] Chr15:76295699 [GRCh38]
Chr15:76588040 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.664+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001069226] Chr15:76285636 [GRCh38]
Chr15:76577977 [GRCh37]
Chr15:15q24.2
likely pathogenic
NM_000126.4(ETFA):c.884_886del (p.Thr295del) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001175202] Chr15:76225926..76225928 [GRCh38]
Chr15:76518267..76518269 [GRCh37]
Chr15:15q24.2
likely pathogenic
NM_000126.4(ETFA):c.967G>A (p.Val323Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001053833] Chr15:76216594 [GRCh38]
Chr15:76508935 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.625del (p.Arg209fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001058139] Chr15:76285676 [GRCh38]
Chr15:76578017 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001217994] Chr15:76286476 [GRCh38]
Chr15:76578817 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.268+3G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001118069] Chr15:76292616 [GRCh38]
Chr15:76584957 [GRCh37]
Chr15:15q24.2
uncertain significance
NC_000015.10:g.(?_76311340)_(76311398_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001033702] Chr15:76603681..76603739 [GRCh37]
Chr15:15q24.3
pathogenic
NM_000126.4(ETFA):c.*46C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001121507] Chr15:76216513 [GRCh38]
Chr15:76508854 [GRCh37]
Chr15:15q24.2
uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:76534705-76607591)x1 copy number loss not provided [RCV001259711] Chr15:76534705..76607591 [GRCh37]
Chr15:15q24.2-24.3
uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3 copy number gain not provided [RCV001259710] Chr15:75920400..76632051 [GRCh37]
Chr15:15q24.2-24.3
uncertain significance
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277763] Chr15:76295607 [GRCh38]
Chr15:76587948 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001330795] Chr15:76295604 [GRCh38]
Chr15:76587945 [GRCh37]
Chr15:15q24.2
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_000126.4(ETFA):c.39+8C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001396775] Chr15:76311342 [GRCh38]
Chr15:76603683 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.765C>A (p.Gly255=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001396954] Chr15:76274463 [GRCh38]
Chr15:76566804 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.165A>G (p.Val55=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001395133] Chr15:76295612 [GRCh38]
Chr15:76587953 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277758] Chr15:76286392 [GRCh38]
Chr15:76578733 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.321C>T (p.His107=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277760] Chr15:76292461 [GRCh38]
Chr15:76584802 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.36G>A (p.Arg12=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001278288] Chr15:76311353 [GRCh38]
Chr15:76603694 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001349016] Chr15:76286428 [GRCh38]
Chr15:76578769 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001313856] Chr15:76292622 [GRCh38]
Chr15:76584963 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001340865] Chr15:76287866 [GRCh38]
Chr15:76580207 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277761] Chr15:76292669 [GRCh38]
Chr15:76585010 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001300516] Chr15:76287905 [GRCh38]
Chr15:76580246 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277756] Chr15:76231339 [GRCh38]
Chr15:76523680 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.351+9G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277759] Chr15:76292422 [GRCh38]
Chr15:76584763 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.39G>A (p.Ala13=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001278287] Chr15:76311350 [GRCh38]
Chr15:76603691 [GRCh37]
Chr15:15q24.3
uncertain significance
NM_000126.4(ETFA):c.883-3C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001277755] Chr15:76225932 [GRCh38]
Chr15:76518273 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001365494] Chr15:76286373 [GRCh38]
Chr15:76578714 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001365627] Chr15:76283784 [GRCh38]
Chr15:76576125 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.24G>A (p.Gly8=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001395128] Chr15:76311365 [GRCh38]
Chr15:76603706 [GRCh37]
Chr15:15q24.3
likely benign
NM_000126.4(ETFA):c.919A>G (p.Ile307Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001365995] Chr15:76225893 [GRCh38]
Chr15:76518234 [GRCh37]
Chr15:15q24.2
uncertain significance
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001381065] Chr15:76274435 [GRCh38]
Chr15:76566776 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.837A>C (p.Gly279=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001409660] Chr15:76231378 [GRCh38]
Chr15:76523719 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.882+7G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001430795] Chr15:76231326 [GRCh38]
Chr15:76523667 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.964-10T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001407657] Chr15:76216607 [GRCh38]
Chr15:76508948 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.423T>C (p.Pro141=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001417189] Chr15:76287874 [GRCh38]
Chr15:76580215 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.591A>C (p.Ser197=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001434339] Chr15:76285710 [GRCh38]
Chr15:76578051 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.723A>G (p.Leu241=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001400483] Chr15:76283767 [GRCh38]
Chr15:76576108 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.478del (p.Asp160fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001390288] Chr15:76286455 [GRCh38]
Chr15:76578796 [GRCh37]
Chr15:15q24.2
pathogenic
NM_000126.4(ETFA):c.283T>C (p.Leu95=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001405803] Chr15:76292499 [GRCh38]
Chr15:76584840 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.352-8G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001408371] Chr15:76287953 [GRCh38]
Chr15:76580294 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.351+8G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001431545] Chr15:76292423 [GRCh38]
Chr15:76584764 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.882+7G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001447666] Chr15:76231326 [GRCh38]
Chr15:76523667 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.345C>T (p.Phe115=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001434740] Chr15:76292437 [GRCh38]
Chr15:76584778 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.201C>G (p.Leu67=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001406265] Chr15:76292686 [GRCh38]
Chr15:76585027 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.264T>G (p.Leu88=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001403966] Chr15:76292623 [GRCh38]
Chr15:76584964 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.240G>A (p.Gln80=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001401778] Chr15:76292647 [GRCh38]
Chr15:76584988 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.558A>G (p.Glu186=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001442037] Chr15:76286375 [GRCh38]
Chr15:76578716 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.883-6T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001406775] Chr15:76225935 [GRCh38]
Chr15:76518276 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.186+9T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001425444] Chr15:76295582 [GRCh38]
Chr15:76587923 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.981T>G (p.Thr327=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001438689] Chr15:76216580 [GRCh38]
Chr15:76508921 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.294A>C (p.Ala98=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001424599] Chr15:76292488 [GRCh38]
Chr15:76584829 [GRCh37]
Chr15:15q24.2
likely benign
NM_000126.4(ETFA):c.393G>A (p.Pro131=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001419113] Chr15:76287904 [GRCh38]
Chr15:76580245 [GRCh37]
Chr15:15q24.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3481 AgrOrtholog
COSMIC ETFA COSMIC
Ensembl Genes ENSG00000140374 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000267950 UniProtKB/TrEMBL
  ENSP00000399273 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452659 UniProtKB/TrEMBL
  ENSP00000452762 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000452777 UniProtKB/TrEMBL
  ENSP00000452942 UniProtKB/TrEMBL
  ENSP00000453017 UniProtKB/TrEMBL
  ENSP00000453098 UniProtKB/TrEMBL
  ENSP00000453345 UniProtKB/TrEMBL
  ENSP00000453422 UniProtKB/TrEMBL
  ENSP00000453753 UniProtKB/TrEMBL
  ENSP00000454194 UniProtKB/TrEMBL
  ENSP00000458001 UniProtKB/TrEMBL
Ensembl Transcript ENST00000267950 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000433983 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000557943 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000559386 UniProtKB/TrEMBL
  ENST00000559602 UniProtKB/TrEMBL
  ENST00000559973 UniProtKB/TrEMBL
  ENST00000560044 UniProtKB/TrEMBL
  ENST00000560309 UniProtKB/TrEMBL
  ENST00000560345 UniProtKB/TrEMBL
  ENST00000560595 UniProtKB/TrEMBL
  ENST00000560726 UniProtKB/TrEMBL
  ENST00000560899 UniProtKB/TrEMBL
  ENST00000565910 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140374 GTEx
HGNC ID HGNC:3481 ENTREZGENE
Human Proteome Map ETFA Human Proteome Map
InterPro DHS-like_NAD/FAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_a/b_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_a/FixB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_alpha_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_asu_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_asu_C_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2108 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2108 ENTREZGENE
OMIM 231680 OMIM
  608053 OMIM
Pfam ETF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27897 PharmGKB
PIRSF Electra_flavoP_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ETF_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ETF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z3L0 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3M4_HUMAN UniProtKB/TrEMBL
  ETFA_HUMAN UniProtKB/Swiss-Prot
  H0YK49_HUMAN UniProtKB/TrEMBL
  H0YKF0_HUMAN UniProtKB/TrEMBL
  H0YL12_HUMAN UniProtKB/TrEMBL
  H0YL83_HUMAN UniProtKB/TrEMBL
  H0YLU7_HUMAN UniProtKB/TrEMBL
  H0YM12_HUMAN UniProtKB/TrEMBL
  H0YMU8_HUMAN UniProtKB/TrEMBL
  H0YNX6_HUMAN UniProtKB/TrEMBL
  H3BV91_HUMAN UniProtKB/TrEMBL
  J3KN60_HUMAN UniProtKB/TrEMBL
  P13804 ENTREZGENE
UniProt Secondary B4DT43 UniProtKB/Swiss-Prot
  Q53XN3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 ETFA  electron transfer flavoprotein subunit alpha  ETFA  electron transfer flavoprotein alpha subunit  Symbol and/or name change 5135510 APPROVED
2016-01-12 ETFA  electron transfer flavoprotein alpha subunit  ETFA  electron-transfer-flavoprotein, alpha polypeptide  Symbol and/or name change 5135510 APPROVED