ETFB (electron transfer flavoprotein subunit beta) - Rat Genome Database

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Gene: ETFB (electron transfer flavoprotein subunit beta) Homo sapiens
Analyze
Symbol: ETFB
Name: electron transfer flavoprotein subunit beta
RGD ID: 1347524
HGNC Page HGNC:3482
Description: Enables electron transfer activity. Involved in amino acid catabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; and respiratory electron transport chain. Located in mitochondrial matrix. Part of electron transfer flavoprotein complex. Implicated in multiple acyl-CoA dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-ETF; electron transfer flavoprotein beta subunit; electron transfer flavoprotein beta-subunit; electron transfer flavoprotein, beta polypeptide; electron-transfer-flavoprotein, beta polypeptide; electron-transferring-flavoprotein, beta polypeptide; FP585; MADD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,345,155 - 51,366,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,345,169 - 51,366,388 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,848,409 - 51,869,642 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,540,221 - 56,561,484 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,540,236 - 56,561,418NCBI
Celera1948,900,014 - 48,920,754 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,180,363 - 48,201,646 (-)NCBIHuRef
CHM1_11951,850,304 - 51,871,634 (-)NCBICHM1_1
T2T-CHM13v2.01954,433,439 - 54,455,031 (-)NCBIT2T-CHM13v2.0
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)
(R)-adrenaline  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
captan  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
fenamidone  (ISO)
fipronil  (ISO)
folic acid  (ISO)
folpet  (ISO)
iodide salt  (ISO)
ivermectin  (EXP)
kainic acid  (ISO)
L-ethionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
mercury atom  (EXP)
mercury(0)  (EXP)
methapyrilene  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
nicotine  (ISO)
Nutlin-3  (EXP)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
pinosylvin  (EXP)
pirinixic acid  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
sarin  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Acyl-CoA dehydrogenases. A mechanistic overview. Ghisla S and Thorpe C, Eur J Biochem. 2004 Feb;271(3):494-508.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1677763   PMID:7912128   PMID:8188225   PMID:8504797   PMID:8617498   PMID:8962055   PMID:10356313   PMID:12477932   PMID:12815589   PMID:14702039   PMID:15159392   PMID:15489334  
PMID:15498874   PMID:15975918   PMID:16510302   PMID:18029348   PMID:19088074   PMID:19208393   PMID:20674745   PMID:20877624   PMID:21832049   PMID:21873635   PMID:21903359   PMID:22588007  
PMID:22939629   PMID:23068445   PMID:23125841   PMID:23376485   PMID:23798571   PMID:23874603   PMID:24453475   PMID:24711643   PMID:25416781   PMID:25915519   PMID:25921289   PMID:26186194  
PMID:26344197   PMID:26496610   PMID:26638075   PMID:26673895   PMID:27035869   PMID:27432908   PMID:27499296   PMID:27840937   PMID:28380382   PMID:28514442   PMID:28712289   PMID:28913729  
PMID:29128334   PMID:29301933   PMID:29395067   PMID:29478914   PMID:29507755   PMID:29568061   PMID:29845934   PMID:30463901   PMID:30948266   PMID:31056398   PMID:31091453   PMID:31253590  
PMID:31418342   PMID:31536960   PMID:31586073   PMID:31665600   PMID:31871319   PMID:31980649   PMID:32457219   PMID:32550677   PMID:32628020   PMID:32877691   PMID:33022573   PMID:33567341  
PMID:33957083   PMID:33961781   PMID:34079125   PMID:34316702   PMID:34349018   PMID:34591612   PMID:34597346   PMID:34709727   PMID:34728620   PMID:34800366   PMID:35235311   PMID:35256949  
PMID:35271311   PMID:35509820   PMID:35831314   PMID:35906200   PMID:35944360   PMID:36057605   PMID:36168628   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36538041   PMID:37071682  
PMID:37223481   PMID:37314216   PMID:37317656   PMID:37827155   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
ETFB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,345,155 - 51,366,388 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,345,169 - 51,366,388 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,848,409 - 51,869,642 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361956,540,221 - 56,561,484 (-)NCBINCBI36Build 36hg18NCBI36
Build 341956,540,236 - 56,561,418NCBI
Celera1948,900,014 - 48,920,754 (-)NCBICelera
Cytogenetic Map19q13.41NCBI
HuRef1948,180,363 - 48,201,646 (-)NCBIHuRef
CHM1_11951,850,304 - 51,871,634 (-)NCBICHM1_1
T2T-CHM13v2.01954,433,439 - 54,455,031 (-)NCBIT2T-CHM13v2.0
Etfb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39743,093,496 - 43,107,224 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl743,093,507 - 43,107,224 (+)EnsemblGRCm39 Ensembl
GRCm38743,444,072 - 43,457,800 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl743,444,083 - 43,457,800 (+)EnsemblGRCm38mm10GRCm38
MGSCv37750,699,513 - 50,713,152 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36743,312,063 - 43,325,702 (+)NCBIMGSCv36mm8
Celera738,910,808 - 38,926,231 (+)NCBICelera
Cytogenetic Map7B3NCBI
cM Map728.25NCBI
Etfb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81102,988,499 - 103,002,663 (+)NCBIGRCr8
mRatBN7.2193,851,908 - 93,866,072 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl193,851,858 - 93,866,068 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx199,237,261 - 99,251,426 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01107,709,936 - 107,724,100 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01101,002,512 - 101,016,678 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0198,472,776 - 98,486,940 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl198,472,745 - 98,486,976 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0199,549,581 - 99,563,745 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4193,820,124 - 93,834,288 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1193,898,234 - 93,912,398 (+)NCBI
Celera188,129,019 - 88,143,212 (+)NCBICelera
Cytogenetic Map1q22NCBI
Etfb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555581,032,743 - 1,046,300 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555581,032,743 - 1,046,300 (+)NCBIChiLan1.0ChiLan1.0
ETFB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22057,383,360 - 57,403,748 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11959,304,795 - 59,325,233 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01948,281,101 - 48,301,527 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11957,166,787 - 57,187,130 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1957,166,829 - 57,175,582 (-)Ensemblpanpan1.1panPan2
ETFB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11105,612,791 - 105,628,125 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1105,185,495 - 105,200,846 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01106,122,338 - 106,137,692 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1106,121,287 - 106,137,669 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11105,793,985 - 105,809,566 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01105,434,826 - 105,450,168 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01106,230,376 - 106,245,728 (+)NCBIUU_Cfam_GSD_1.0
Etfb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934923,053,838 - 23,059,147 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493737823,268 - 33,276 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493737826,164 - 31,470 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ETFB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl658,501,811 - 58,517,579 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1658,501,892 - 58,517,580 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2651,672,759 - 51,688,457 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ETFB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1644,269,123 - 44,286,039 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl644,267,702 - 44,286,065 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607324,316,882 - 24,335,244 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Etfb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248323,505,511 - 3,518,870 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248323,506,140 - 3,518,760 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ETFB
311 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001985.3(ETFB):c.597+1G>C single nucleotide variant Glutaric acidemia IIb [RCV000018201] Chr19:51346899 [GRCh38]
Chr19:51850153 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.58-53_58-52insG insertion not provided [RCV000723184] Chr19:51354360..51354361 [GRCh38]
Chr19:51857614..51857615 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000555412] Chr19:51345381 [GRCh38]
Chr19:51848635 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) single nucleotide variant Glutaric acidemia IIb [RCV000018200]|Multiple acyl-CoA dehydrogenase deficiency [RCV001235936] Chr19:51347006 [GRCh38]
Chr19:51850260 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) single nucleotide variant Glutaric acidemia IIb [RCV000018202]|Multiple acyl-CoA dehydrogenase deficiency [RCV002513095]|not specified [RCV004525856] Chr19:51350385 [GRCh38]
Chr19:51853639 [GRCh37]
Chr19:19q13.41		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_001985.2(ETFB):c.189C>G (p.Ala63=) single nucleotide variant Malignant melanoma [RCV000072280] Chr19:51354177 [GRCh38]
Chr19:51857431 [GRCh37]
Chr19:56549243 [NCBI36]
Chr19:19q13.41		 not provided
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000991043]|not provided [RCV000676879]|not specified [RCV000079961] Chr19:51347036 [GRCh38]
Chr19:51850290 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.728A>C (p.Glu243Ala) single nucleotide variant not provided [RCV000079962] Chr19:51345251 [GRCh38]
Chr19:51848505 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.438+20C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001521231]|not provided [RCV004717009]|not specified [RCV000153199] Chr19:51350309 [GRCh38]
Chr19:51853563 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.-36G>C single nucleotide variant not provided [RCV004717010]|not specified [RCV000124916] Chr19:51366362 [GRCh38]
Chr19:51869616 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) single nucleotide variant Glutaric acidemia IIc [RCV004035727]|Multiple acyl-CoA dehydrogenase deficiency [RCV001332069] Chr19:51353233 [GRCh38]
Chr19:51856487 [GRCh37]
Chr19:19q13.41		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 copy number gain See cases [RCV000143450] Chr19:51202361..51993020 [GRCh38]
Chr19:51705617..52496273 [GRCh37]
Chr19:56397429..57188085 [NCBI36]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-212A>C single nucleotide variant ETFB-related disorder [RCV003925233]|Multiple acyl-CoA dehydrogenase deficiency [RCV000625041]|not provided [RCV000996998]|not specified [RCV000124911] Chr19:51354520 [GRCh38]
Chr19:51857774 [GRCh37]
Chr19:19q13.41		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.58-176C>T single nucleotide variant not provided [RCV004717007]|not specified [RCV000124912] Chr19:51354484 [GRCh38]
Chr19:51857738 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.58-142G>A single nucleotide variant not provided [RCV004717008]|not specified [RCV000124913] Chr19:51354450 [GRCh38]
Chr19:51857704 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.58-96G>A single nucleotide variant ETFB-related disorder [RCV003925234]|Multiple acyl-CoA dehydrogenase deficiency [RCV002055530]|not provided [RCV000224344]|not specified [RCV000124914] Chr19:51354404 [GRCh38]
Chr19:51857658 [GRCh37]
Chr19:19q13.41		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001985.3(ETFB):c.58-318_58-313dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV000722009]|not provided [RCV001704963] Chr19:51354620..51354621 [GRCh38]
Chr19:51857874..51857875 [GRCh37]
Chr19:19q13.41		 benign|likely benign
NM_001014763.1(ETFB):c.18_19insCTGTGG (p.Trp6_Val7insLeuTrp) insertion not specified [RCV000185871] Chr19:51354620..51354621 [GRCh38]
Chr19:51857874..51857875 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.58-57dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV000721998]|not provided [RCV001535408]|not specified [RCV000185872] Chr19:51354360..51354361 [GRCh38]
Chr19:51857614..51857615 [GRCh37]
Chr19:19q13.41		 benign|uncertain significance
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) single nucleotide variant Inborn genetic diseases [RCV002517821]|Multiple acyl-CoA dehydrogenase deficiency [RCV000814061]|not provided [RCV000415826] Chr19:51353229 [GRCh38]
Chr19:51856483 [GRCh37]
Chr19:19q13.41		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) single nucleotide variant Chronic kidney disease [RCV001171332]|ETFB-related disorder [RCV003907648]|Multiple acyl-CoA dehydrogenase deficiency [RCV001086047]|not provided [RCV000658852]|not specified [RCV000185874] Chr19:51353215 [GRCh38]
Chr19:51856469 [GRCh37]
Chr19:19q13.41		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.447C>T (p.Phe149=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001084836]|not provided [RCV000676880]|not specified [RCV000185875] Chr19:51347050 [GRCh38]
Chr19:51850304 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.521G>A (p.Arg174His) single nucleotide variant ETFB-related disorder [RCV003927723]|Multiple acyl-CoA dehydrogenase deficiency [RCV001088837]|not provided [RCV000224154] Chr19:51346976 [GRCh38]
Chr19:51850230 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) single nucleotide variant Inborn genetic diseases [RCV002516967]|Multiple acyl-CoA dehydrogenase deficiency [RCV000809414]|not provided [RCV000416208] Chr19:51345270 [GRCh38]
Chr19:51848524 [GRCh37]
Chr19:19q13.41		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001985428] Chr19:51353250 [GRCh38]
Chr19:51856504 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.160G>A (p.Glu54Lys) single nucleotide variant not provided [RCV000185878] Chr19:51354206 [GRCh38]
Chr19:51857460 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.227G>A (p.Arg76His) single nucleotide variant Inborn genetic diseases [RCV002513953]|Multiple acyl-CoA dehydrogenase deficiency [RCV000548291]|not provided [RCV000185879] Chr19:51353280 [GRCh38]
Chr19:51856534 [GRCh37]
Chr19:19q13.41		 likely pathogenic|uncertain significance
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002513954]|not provided [RCV000185880]|not specified [RCV002222436] Chr19:51353275 [GRCh38]
Chr19:51856529 [GRCh37]
Chr19:19q13.41		 likely pathogenic|uncertain significance
NM_001985.3(ETFB):c.236T>A (p.Leu79Gln) single nucleotide variant not provided [RCV000185881] Chr19:51353271 [GRCh38]
Chr19:51856525 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.278dup (p.Ala94fs) duplication Inborn genetic diseases [RCV000210613] Chr19:51353228..51353229 [GRCh38]
Chr19:51856482..51856483 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.373C>G (p.Gln125Glu) single nucleotide variant not provided [RCV000723223] Chr19:51353134 [GRCh38]
Chr19:51856388 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.471G>A (p.Gly157=) single nucleotide variant not specified [RCV000606282] Chr19:51347026 [GRCh38]
Chr19:51850280 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.376-2A>G single nucleotide variant not provided [RCV000722573] Chr19:51350393 [GRCh38]
Chr19:51853647 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.41(chr19:51840736-51870742)x3 copy number gain See cases [RCV000447286] Chr19:51840736..51870742 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.702G>A (p.Thr234=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001480063]|not specified [RCV000429243] Chr19:51345277 [GRCh38]
Chr19:51848531 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+17C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001861522]|not provided [RCV001703705]|not specified [RCV003993958] Chr19:51346883 [GRCh38]
Chr19:51850137 [GRCh37]
Chr19:19q13.41		 likely benign
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001985.3(ETFB):c.519G>C (p.Leu173=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002061386]|not specified [RCV000437246] Chr19:51346978 [GRCh38]
Chr19:51850232 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.498C>T (p.Ile166=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001491358]|not specified [RCV000427002] Chr19:51346999 [GRCh38]
Chr19:51850253 [GRCh37]
Chr19:19q13.41		 likely benign
GRCh37/hg19 19q13.41(chr19:51840736-51853666)x3 copy number gain See cases [RCV000448571] Chr19:51840736..51853666 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-14C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002529709]|not specified [RCV000602767] Chr19:51345395 [GRCh38]
Chr19:51848649 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000634897] Chr19:51345282 [GRCh38]
Chr19:51848536 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-91C>T single nucleotide variant not specified [RCV000602342] Chr19:51354399 [GRCh38]
Chr19:51857653 [GRCh37]
Chr19:19q13.41		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000538071] Chr19:51354244 [GRCh38]
Chr19:51857498 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000540682]|not provided [RCV001551094] Chr19:51346920 [GRCh38]
Chr19:51850174 [GRCh37]
Chr19:19q13.41		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.582G>A (p.Thr194=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002063990]|not specified [RCV000610051] Chr19:51346915 [GRCh38]
Chr19:51850169 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+6C>A single nucleotide variant not specified [RCV000608363] Chr19:51346894 [GRCh38]
Chr19:51850148 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+8C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002528605]|not specified [RCV000611522] Chr19:51346892 [GRCh38]
Chr19:51850146 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.-44C>A single nucleotide variant not specified [RCV000600248] Chr19:51366370 [GRCh38]
Chr19:51869624 [GRCh37]
Chr19:19q13.41		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_001985.3(ETFB):c.135G>A (p.Ala45=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003117415]|not specified [RCV000600542] Chr19:51354231 [GRCh38]
Chr19:51857485 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.217-4G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000634900]|not provided [RCV001613419] Chr19:51353294 [GRCh38]
Chr19:51856548 [GRCh37]
Chr19:19q13.41		 benign|likely benign
NM_001985.3(ETFB):c.58-196_58-194del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV000721999] Chr19:51354502..51354504 [GRCh38]
Chr19:51857756..51857758 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000691202]|not provided [RCV001551852] Chr19:51346932 [GRCh38]
Chr19:51850186 [GRCh37]
Chr19:19q13.41		 likely benign|uncertain significance
NM_001985.3(ETFB):c.217-124C>T single nucleotide variant not provided [RCV001541050] Chr19:51353414 [GRCh38]
Chr19:51856668 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NC_000019.10:g.51345006A>T single nucleotide variant not provided [RCV001681317] Chr19:51345006 [GRCh38]
Chr19:51848260 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.598-1del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003473538]|not provided [RCV000996996] Chr19:51345382 [GRCh38]
Chr19:51848636 [GRCh37]
Chr19:19q13.41		 likely pathogenic|uncertain significance
NM_001985.3(ETFB):c.58-57C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000985168] Chr19:51354365 [GRCh38]
Chr19:51857619 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.708C>T (p.Gly236=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001450172]|not specified [RCV004586970] Chr19:51345271 [GRCh38]
Chr19:51848525 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000864900]|not provided [RCV002245716] Chr19:51347045 [GRCh38]
Chr19:51850299 [GRCh37]
Chr19:19q13.41		 likely benign|uncertain significance
NM_001985.3(ETFB):c.576C>T (p.Tyr192=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002066158] Chr19:51346921 [GRCh38]
Chr19:51850175 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.132C>T (p.Ile44=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512088] Chr19:51354234 [GRCh38]
Chr19:51857488 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.253C>A (p.Arg85=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000970547]|not provided [RCV004704381] Chr19:51353254 [GRCh38]
Chr19:51856508 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.24A>G (p.Val8=) single nucleotide variant not provided [RCV000895345] Chr19:51366303 [GRCh38]
Chr19:51869557 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.264C>T (p.His88=) single nucleotide variant ETFB-related disorder [RCV003920419]|Multiple acyl-CoA dehydrogenase deficiency [RCV002064722] Chr19:51353243 [GRCh38]
Chr19:51856497 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.217-75A>G single nucleotide variant not provided [RCV000835520] Chr19:51353365 [GRCh38]
Chr19:51856619 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.217-60G>A single nucleotide variant not provided [RCV000835653] Chr19:51353350 [GRCh38]
Chr19:51856604 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.2(ETFB):c.-170T>C single nucleotide variant not provided [RCV000835739] Chr19:51366496 [GRCh38]
Chr19:51869750 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.376-227C>T single nucleotide variant not provided [RCV000839841] Chr19:51350618 [GRCh38]
Chr19:51853872 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.438+231T>C single nucleotide variant not provided [RCV000839843] Chr19:51350098 [GRCh38]
Chr19:51853352 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.439-173A>G single nucleotide variant not provided [RCV000839845] Chr19:51347231 [GRCh38]
Chr19:51850485 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.597+227C>G single nucleotide variant not provided [RCV000839846] Chr19:51346673 [GRCh38]
Chr19:51849927 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.598-189T>C single nucleotide variant not provided [RCV000839854] Chr19:51345570 [GRCh38]
Chr19:51848824 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000814113] Chr19:51345218 [GRCh38]
Chr19:51848472 [GRCh37]
Chr19:19q13.41		 uncertain significance
Single allele insertion Multiple acyl-CoA dehydrogenase deficiency [RCV002067565]|not provided [RCV000984894] Chr19:19q13.41 pathogenic
NM_001985.3(ETFB):c.-58C>T single nucleotide variant not provided [RCV000833436] Chr19:51366384 [GRCh38]
Chr19:51869638 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.438+295G>C single nucleotide variant not provided [RCV000844032] Chr19:51350034 [GRCh38]
Chr19:51853288 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.57+258A>G single nucleotide variant not provided [RCV000830256] Chr19:51366012 [GRCh38]
Chr19:51869266 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.376-292T>C single nucleotide variant not provided [RCV000830287] Chr19:51350683 [GRCh38]
Chr19:51853937 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.376-179G>A single nucleotide variant not provided [RCV000839855] Chr19:51350570 [GRCh38]
Chr19:51853824 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.236T>C (p.Leu79Pro) single nucleotide variant not provided [RCV000996997] Chr19:51353271 [GRCh38]
Chr19:51856525 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.375+215G>A single nucleotide variant not provided [RCV000829664] Chr19:51352917 [GRCh38]
Chr19:51856171 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-199T>C single nucleotide variant not provided [RCV000839853] Chr19:51345580 [GRCh38]
Chr19:51848834 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.439-321C>T single nucleotide variant not provided [RCV000830582] Chr19:51347379 [GRCh38]
Chr19:51850633 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.439-285A>G single nucleotide variant not provided [RCV000844034] Chr19:51347343 [GRCh38]
Chr19:51850597 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.439-194G>A single nucleotide variant not provided [RCV000841566] Chr19:51347252 [GRCh38]
Chr19:51850506 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.597+191G>A single nucleotide variant not provided [RCV000841568] Chr19:51346709 [GRCh38]
Chr19:51849963 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.217-97C>G single nucleotide variant not provided [RCV000835518] Chr19:51353387 [GRCh38]
Chr19:51856641 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.217-87C>T single nucleotide variant not provided [RCV000835519] Chr19:51353377 [GRCh38]
Chr19:51856631 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.254G>C (p.Arg85Pro) single nucleotide variant not provided [RCV003480339] Chr19:51353253 [GRCh38]
Chr19:51856507 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln) single nucleotide variant Inborn genetic diseases [RCV004244558]|Multiple acyl-CoA dehydrogenase deficiency [RCV003105205] Chr19:51354200 [GRCh38]
Chr19:51857454 [GRCh37]
Chr19:19q13.41		 uncertain significance
NC_000019.9:g.(?_51727962)_(51890697_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003107570] Chr19:51727962..51890697 [GRCh37]
Chr19:19q13.41		 pathogenic
NC_000019.9:g.(?_51848465)_(51856564_?)dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003107571] Chr19:51848465..51856564 [GRCh37]
Chr19:19q13.41		 uncertain significance
NC_000019.10:g.51366563GA[2] microsatellite not provided [RCV001576706] Chr19:51366563..51366566 [GRCh38]
Chr19:51869817..51869820 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-136C>G single nucleotide variant not provided [RCV001555216] Chr19:51347194 [GRCh38]
Chr19:51850448 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.438+187C>T single nucleotide variant not provided [RCV001687319] Chr19:51350142 [GRCh38]
Chr19:51853396 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.376-112C>G single nucleotide variant not provided [RCV001676517] Chr19:51350503 [GRCh38]
Chr19:51853757 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.375+175G>A single nucleotide variant not provided [RCV001676997] Chr19:51352957 [GRCh38]
Chr19:51856211 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.57+178C>T single nucleotide variant not provided [RCV001716792] Chr19:51366092 [GRCh38]
Chr19:51869346 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.393T>C (p.Cys131=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001489623] Chr19:51350374 [GRCh38]
Chr19:51853628 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.252C>T (p.Asp84=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001469751] Chr19:51353255 [GRCh38]
Chr19:51856509 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.189C>T (p.Ala63=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002065955] Chr19:51354177 [GRCh38]
Chr19:51857431 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr) single nucleotide variant Inborn genetic diseases [RCV003166537]|Multiple acyl-CoA dehydrogenase deficiency [RCV001244954] Chr19:51354248 [GRCh38]
Chr19:51857502 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001244975] Chr19:51353254 [GRCh38]
Chr19:51856508 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.618C>T (p.Ile206=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV000890204] Chr19:51345361 [GRCh38]
Chr19:51848615 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.57+7G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001501386] Chr19:51366263 [GRCh38]
Chr19:51869517 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+1G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002470034] Chr19:51353131 [GRCh38]
Chr19:51856385 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.438+183C>A single nucleotide variant not provided [RCV001717769] Chr19:51350146 [GRCh38]
Chr19:51853400 [GRCh37]
Chr19:19q13.41		 benign
NC_000019.10:g.51344941G>A single nucleotide variant not provided [RCV001709837] Chr19:51344941 [GRCh38]
Chr19:51848195 [GRCh37]
Chr19:19q13.41		 benign
NC_000019.10:g.51366573G>A single nucleotide variant not provided [RCV001587867] Chr19:51366573 [GRCh38]
Chr19:51869827 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-90A>G single nucleotide variant not provided [RCV001669931] Chr19:51347148 [GRCh38]
Chr19:51850402 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.438+115G>A single nucleotide variant not provided [RCV001638554] Chr19:51350214 [GRCh38]
Chr19:51853468 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3 copy number gain not provided [RCV001007055] Chr19:50469730..51916485 [GRCh37]
Chr19:19q13.33-13.41		 uncertain significance
NM_001985.3(ETFB):c.217-131T>C single nucleotide variant not provided [RCV001679798] Chr19:51353421 [GRCh38]
Chr19:51856675 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.632C>A (p.Pro211His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001050507] Chr19:51345347 [GRCh38]
Chr19:51848601 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-478G>A single nucleotide variant not provided [RCV001667656] Chr19:51354786 [GRCh38]
Chr19:51858040 [GRCh37]
Chr19:19q13.41		 benign
NC_000019.10:g.51366433C>T single nucleotide variant not provided [RCV001682383] Chr19:51366433 [GRCh38]
Chr19:51869687 [GRCh37]
Chr19:19q13.41		 benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001210914] Chr19:51345292 [GRCh38]
Chr19:51848546 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_001985.3(ETFB):c.645dup (p.Val216fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV001315538]|not specified [RCV002222695] Chr19:51345333..51345334 [GRCh38]
Chr19:51848587..51848588 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-260C>A single nucleotide variant not provided [RCV001358139] Chr19:51354568 [GRCh38]
Chr19:51857822 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.113T>C (p.Met38Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001362604] Chr19:51354253 [GRCh38]
Chr19:51857507 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.134C>T (p.Ala45Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001372453]|not specified [RCV003331137] Chr19:51354232 [GRCh38]
Chr19:51857486 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-87A>C single nucleotide variant ETFB-related disorder [RCV003416218]|Multiple acyl-CoA dehydrogenase deficiency [RCV001330124] Chr19:51354395 [GRCh38]
Chr19:51857649 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.151C>A (p.Arg51=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001428098] Chr19:51354215 [GRCh38]
Chr19:51857469 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.705C>T (p.Ala235=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001484711] Chr19:51345274 [GRCh38]
Chr19:51848528 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.216+7A>G single nucleotide variant ETFB-related disorder [RCV003900701]|Multiple acyl-CoA dehydrogenase deficiency [RCV001493534] Chr19:51354143 [GRCh38]
Chr19:51857397 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+46T>G single nucleotide variant not provided [RCV001581931] Chr19:51366224 [GRCh38]
Chr19:51869478 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.138G>C (p.Val46=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001410982] Chr19:51354228 [GRCh38]
Chr19:51857482 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+36C>T single nucleotide variant not provided [RCV001587734] Chr19:51366234 [GRCh38]
Chr19:51869488 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.-16T>C single nucleotide variant not provided [RCV001586980] Chr19:51366342 [GRCh38]
Chr19:51869596 [GRCh37]
Chr19:19q13.41		 likely benign
NC_000019.10:g.51366568A>G single nucleotide variant not provided [RCV001686088] Chr19:51366568 [GRCh38]
Chr19:51869822 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.267G>A (p.Val89=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001424865] Chr19:51353240 [GRCh38]
Chr19:51856494 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+14C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003104803] Chr19:51366256 [GRCh38]
Chr19:51869510 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.284_293del (p.Glu95fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV001783209] Chr19:51353214..51353223 [GRCh38]
Chr19:51856468..51856477 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV001774259] Chr19:51347049 [GRCh38]
Chr19:51850303 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.241A>G (p.Met81Val) single nucleotide variant not provided [RCV001806469] Chr19:51353266 [GRCh38]
Chr19:51856520 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002024486] Chr19:51346977 [GRCh38]
Chr19:51850231 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.438+5G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001982718] Chr19:51350324 [GRCh38]
Chr19:51853578 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) insertion Multiple acyl-CoA dehydrogenase deficiency [RCV001947884] Chr19:51350340..51350341 [GRCh38]
Chr19:51853594..51853595 [GRCh37]
Chr19:19q13.41		 pathogenic
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) copy number gain not specified [RCV002052689] Chr19:49911081..53127438 [GRCh37]
Chr19:19q13.33-13.41		 likely pathogenic
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002020352] Chr19:51346908 [GRCh38]
Chr19:51850162 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.259A>G (p.Ile87Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001871140] Chr19:51353248 [GRCh38]
Chr19:51856502 [GRCh37]
Chr19:19q13.41		 uncertain significance
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 copy number gain not provided [RCV001827892] Chr19:51769834..52415762 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.22G>A (p.Val8Ile) single nucleotide variant Inborn genetic diseases [RCV002550998]|Multiple acyl-CoA dehydrogenase deficiency [RCV001932399]|not provided [RCV004797961] Chr19:51366305 [GRCh38]
Chr19:51869559 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu) single nucleotide variant Inborn genetic diseases [RCV002561431]|Multiple acyl-CoA dehydrogenase deficiency [RCV001944138]|not provided [RCV004793625] Chr19:51366287 [GRCh38]
Chr19:51869541 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser) single nucleotide variant Inborn genetic diseases [RCV003355704]|Multiple acyl-CoA dehydrogenase deficiency [RCV001997464] Chr19:51345273 [GRCh38]
Chr19:51848527 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.99T>C (p.Gly33=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002037796] Chr19:51354267 [GRCh38]
Chr19:51857521 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+6C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001937375] Chr19:51346894 [GRCh38]
Chr19:51850148 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV001940732] Chr19:51345363..51345365 [GRCh38]
Chr19:51848617..51848619 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001996102] Chr19:51354224 [GRCh38]
Chr19:51857478 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser) single nucleotide variant Inborn genetic diseases [RCV002556356]|Multiple acyl-CoA dehydrogenase deficiency [RCV001925930] Chr19:51354284 [GRCh38]
Chr19:51857538 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr) single nucleotide variant Inborn genetic diseases [RCV004616959]|Multiple acyl-CoA dehydrogenase deficiency [RCV002011512] Chr19:51353260 [GRCh38]
Chr19:51856514 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.541G>A (p.Val181Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001935396] Chr19:51346956 [GRCh38]
Chr19:51850210 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.572G>A (p.Arg191His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001903360] Chr19:51346925 [GRCh38]
Chr19:51850179 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001866543] Chr19:51345219 [GRCh38]
Chr19:51848473 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001939613]|not provided [RCV004699584] Chr19:51347007 [GRCh38]
Chr19:51850261 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic|uncertain significance
NM_001985.3(ETFB):c.184A>G (p.Ile62Val) single nucleotide variant Inborn genetic diseases [RCV002562826]|Multiple acyl-CoA dehydrogenase deficiency [RCV001952981] Chr19:51354182 [GRCh38]
Chr19:51857436 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001917978] Chr19:51345303 [GRCh38]
Chr19:51848557 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001879069]|not provided [RCV002274230] Chr19:51353191 [GRCh38]
Chr19:51856445 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.92C>T (p.Thr31Met) single nucleotide variant Inborn genetic diseases [RCV003348639]|Multiple acyl-CoA dehydrogenase deficiency [RCV001924272] Chr19:51354274 [GRCh38]
Chr19:51857528 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001916076] Chr19:51346926 [GRCh38]
Chr19:51850180 [GRCh37]
Chr19:19q13.41		 conflicting interpretations of pathogenicity|uncertain significance
NM_001985.3(ETFB):c.499G>C (p.Asp167His) single nucleotide variant Inborn genetic diseases [RCV002552107]|Multiple acyl-CoA dehydrogenase deficiency [RCV001900330]|not provided [RCV003481154] Chr19:51346998 [GRCh38]
Chr19:51850252 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002017443] Chr19:51354233 [GRCh38]
Chr19:51857487 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.293G>A (p.Arg98His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001979000] Chr19:51353214 [GRCh38]
Chr19:51856468 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV001974033] Chr19:51354304 [GRCh38]
Chr19:51857558 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.402A>G (p.Thr134=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002090236] Chr19:51350365 [GRCh38]
Chr19:51853619 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.762G>T (p.Arg254=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002147978] Chr19:51345217 [GRCh38]
Chr19:51848471 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.480G>A (p.Leu160=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002205012] Chr19:51347017 [GRCh38]
Chr19:51850271 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-4C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002209714] Chr19:51347062 [GRCh38]
Chr19:51850316 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.48C>T (p.Tyr16=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002169907] Chr19:51366279 [GRCh38]
Chr19:51869533 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+12_597+25del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002195704] Chr19:51346875..51346888 [GRCh38]
Chr19:51850129..51850142 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.90C>A (p.Val30=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002197522] Chr19:51354276 [GRCh38]
Chr19:51857530 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-14C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002094619] Chr19:51347072 [GRCh38]
Chr19:51850326 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.6G>T (p.Ala2=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002177963] Chr19:51366321 [GRCh38]
Chr19:51869575 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.9G>A (p.Glu3=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002177761] Chr19:51366318 [GRCh38]
Chr19:51869572 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+16del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002164186] Chr19:51366254 [GRCh38]
Chr19:51869508 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.81C>T (p.Thr27=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002164191] Chr19:51354285 [GRCh38]
Chr19:51857539 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.18G>C (p.Val6=) single nucleotide variant ETFB-related disorder [RCV003895970]|Multiple acyl-CoA dehydrogenase deficiency [RCV002143936] Chr19:51366309 [GRCh38]
Chr19:51869563 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.117C>T (p.Asn39=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002220500] Chr19:51354249 [GRCh38]
Chr19:51857503 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-20C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002158160] Chr19:51347078 [GRCh38]
Chr19:51850332 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+14G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002102361] Chr19:51353118 [GRCh38]
Chr19:51856372 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+9C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002200532] Chr19:51346891 [GRCh38]
Chr19:51850145 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.414A>G (p.Thr138=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002098752] Chr19:51350353 [GRCh38]
Chr19:51853607 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.22G>C (p.Val8Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003115235] Chr19:51366305 [GRCh38]
Chr19:51869559 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.375+7G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003115163] Chr19:51353125 [GRCh38]
Chr19:51856379 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-1863G>A single nucleotide variant not provided [RCV002263187] Chr19:51356171 [GRCh38]
Chr19:51859425 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.736G>A (p.Val246Met) single nucleotide variant Inborn genetic diseases [RCV003261656] Chr19:51345243 [GRCh38]
Chr19:51848497 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-27C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003148469] Chr19:51354335 [GRCh38]
Chr19:51857589 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.136del (p.Val46fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002472164] Chr19:51354230 [GRCh38]
Chr19:51857484 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002296145] Chr19:51345368 [GRCh38]
Chr19:51848622 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.15C>T (p.Arg5=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002754970] Chr19:51366312 [GRCh38]
Chr19:51869566 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.715G>A (p.Val239Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003013691] Chr19:51345264 [GRCh38]
Chr19:51848518 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.52G>T (p.Val18Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002819796] Chr19:51366275 [GRCh38]
Chr19:51869529 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.598-3C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002842723] Chr19:51345384 [GRCh38]
Chr19:51848638 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.375+6T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003076393] Chr19:51353126 [GRCh38]
Chr19:51856380 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln) single nucleotide variant Inborn genetic diseases [RCV003051206]|Multiple acyl-CoA dehydrogenase deficiency [RCV003076432] Chr19:51353253 [GRCh38]
Chr19:51856507 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002751596] Chr19:51366313 [GRCh38]
Chr19:51869567 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002755179] Chr19:51354268 [GRCh38]
Chr19:51857522 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.257G>T (p.Gly86Val) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003003194] Chr19:51353250 [GRCh38]
Chr19:51856504 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.217-14T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002571773] Chr19:51353304 [GRCh38]
Chr19:51856558 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.216+18del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003039409] Chr19:51354132 [GRCh38]
Chr19:51857386 [GRCh37]
Chr19:19q13.41		 benign
NM_001985.3(ETFB):c.376-12C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002623047] Chr19:51350403 [GRCh38]
Chr19:51853657 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.726T>C (p.Thr242=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002785862] Chr19:51345253 [GRCh38]
Chr19:51848507 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.504G>C (p.Gly168=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002736579] Chr19:51346993 [GRCh38]
Chr19:51850247 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.186C>G (p.Ile62Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003002331] Chr19:51354180 [GRCh38]
Chr19:51857434 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.450C>A (p.Ala150=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002740188] Chr19:51347047 [GRCh38]
Chr19:51850301 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.564C>T (p.Asn188=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002571877] Chr19:51346933 [GRCh38]
Chr19:51850187 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.341_375+154del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV002868020] Chr19:51352978..51353166 [GRCh38]
Chr19:51856232..51856420 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.297G>A (p.Leu99=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002867341] Chr19:51353210 [GRCh38]
Chr19:51856464 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002976143] Chr19:51353131 [GRCh38]
Chr19:51856385 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.597+13C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002736576] Chr19:51346887 [GRCh38]
Chr19:51850141 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002885076] Chr19:51347043 [GRCh38]
Chr19:51850297 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.343_345del (p.Glu115del) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003100658]|not provided [RCV004790369] Chr19:51353162..51353164 [GRCh38]
Chr19:51856416..51856418 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.282A>G (p.Ala94=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003100415] Chr19:51353225 [GRCh38]
Chr19:51856479 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002636931] Chr19:51354288 [GRCh38]
Chr19:51857542 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.636G>A (p.Gly212=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002953155] Chr19:51345343 [GRCh38]
Chr19:51848597 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003035340] Chr19:51354215 [GRCh38]
Chr19:51857469 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.498C>G (p.Ile166Met) single nucleotide variant Inborn genetic diseases [RCV003093042]|Multiple acyl-CoA dehydrogenase deficiency [RCV003100499] Chr19:51346999 [GRCh38]
Chr19:51850253 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003037728] Chr19:51353173 [GRCh38]
Chr19:51856427 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003078435] Chr19:51366278 [GRCh38]
Chr19:51869532 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.438+4A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003035901] Chr19:51350325 [GRCh38]
Chr19:51853579 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.438+5G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002909167] Chr19:51350324 [GRCh38]
Chr19:51853578 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.588C>G (p.Pro196=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002745717] Chr19:51346909 [GRCh38]
Chr19:51850163 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003085997] Chr19:51354214 [GRCh38]
Chr19:51857468 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.216+10G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002625244] Chr19:51354140 [GRCh38]
Chr19:51857394 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002765851] Chr19:51353181 [GRCh38]
Chr19:51856435 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.2T>C (p.Met1Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002765576] Chr19:51366325 [GRCh38]
Chr19:51869579 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.622G>A (p.Val208Met) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003005842] Chr19:51345357 [GRCh38]
Chr19:51848611 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.273G>A (p.Val91=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002872746] Chr19:51353234 [GRCh38]
Chr19:51856488 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002572886] Chr19:51346998 [GRCh38]
Chr19:51850252 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.93G>C (p.Thr31=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002624488] Chr19:51354273 [GRCh38]
Chr19:51857527 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.186C>T (p.Ile62=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003081821] Chr19:51354180 [GRCh38]
Chr19:51857434 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys) single nucleotide variant ETFB-related disorder [RCV003410002]|Multiple acyl-CoA dehydrogenase deficiency [RCV002967305] Chr19:51346977 [GRCh38]
Chr19:51850231 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.123C>T (p.Phe41=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003049180] Chr19:51354243 [GRCh38]
Chr19:51857497 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.216+12C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003029343] Chr19:51354138 [GRCh38]
Chr19:51857392 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.705C>A (p.Ala235=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002746281] Chr19:51345274 [GRCh38]
Chr19:51848528 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+19C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002672170] Chr19:51353113 [GRCh38]
Chr19:51856367 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375G>C (p.Gln125His) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003064593] Chr19:51353132 [GRCh38]
Chr19:51856386 [GRCh37]
Chr19:19q13.41		 likely pathogenic|uncertain significance
NM_001985.3(ETFB):c.231C>T (p.Thr77=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002962767] Chr19:51353276 [GRCh38]
Chr19:51856530 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.358G>T (p.Val120Leu) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002601956] Chr19:51353149 [GRCh38]
Chr19:51856403 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.581C>T (p.Thr194Met) single nucleotide variant Inborn genetic diseases [RCV002769492]|not provided [RCV003481442] Chr19:51346916 [GRCh38]
Chr19:51850170 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002598342] Chr19:51354284 [GRCh38]
Chr19:51857538 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003009137] Chr19:51350372 [GRCh38]
Chr19:51853626 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.376-7C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003087986] Chr19:51350398 [GRCh38]
Chr19:51853652 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+18G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002604644] Chr19:51346882 [GRCh38]
Chr19:51850136 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-18T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002721836] Chr19:51347076 [GRCh38]
Chr19:51850330 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003051501] Chr19:51345348 [GRCh38]
Chr19:51848602 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.666C>T (p.Leu222=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002658354] Chr19:51345313 [GRCh38]
Chr19:51848567 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.411G>A (p.Met137Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV002609387] Chr19:51350356 [GRCh38]
Chr19:51853610 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.597+17C>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003073332] Chr19:51346883 [GRCh38]
Chr19:51850137 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly) single nucleotide variant Inborn genetic diseases [RCV003073141]|Multiple acyl-CoA dehydrogenase deficiency [RCV003073140] Chr19:51353154 [GRCh38]
Chr19:51856408 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.190G>A (p.Val64Ile) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003067514] Chr19:51354176 [GRCh38]
Chr19:51857430 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-8_58-6del microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003625893] Chr19:51354314..51354316 [GRCh38]
Chr19:51857568..51857570 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+19G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625636] Chr19:51346881 [GRCh38]
Chr19:51850135 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476354] Chr19:51354305 [GRCh38]
Chr19:51857559 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.671_672del (p.Val224fs) microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003476356] Chr19:51345307..51345308 [GRCh38]
Chr19:51848561..51848562 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.61del (p.Arg21fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476358] Chr19:51354305 [GRCh38]
Chr19:51857559 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476359] Chr19:51354242 [GRCh38]
Chr19:51857496 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.58-10T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625306] Chr19:51354318 [GRCh38]
Chr19:51857572 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.355C>T (p.Leu119=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623943] Chr19:51353152 [GRCh38]
Chr19:51856406 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+1G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476355] Chr19:51353131 [GRCh38]
Chr19:51856385 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.201G>A (p.Gly67=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625347] Chr19:51354165 [GRCh38]
Chr19:51857419 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.6G>A (p.Ala2=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625358] Chr19:51366321 [GRCh38]
Chr19:51869575 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+10C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625732] Chr19:51366260 [GRCh38]
Chr19:51869514 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.492G>A (p.Arg164=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625077] Chr19:51347005 [GRCh38]
Chr19:51850259 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-10T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625079] Chr19:51354318 [GRCh38]
Chr19:51857572 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.69G>A (p.Lys23=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623997] Chr19:51354297 [GRCh38]
Chr19:51857551 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.324G>A (p.Leu108=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624016] Chr19:51353183 [GRCh38]
Chr19:51856437 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.315T>A (p.Ala105=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623957] Chr19:51353192 [GRCh38]
Chr19:51856446 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-20_439-18del microsatellite Multiple acyl-CoA dehydrogenase deficiency [RCV003625121] Chr19:51347076..51347078 [GRCh38]
Chr19:51850330..51850332 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.375+16C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625399] Chr19:51353116 [GRCh38]
Chr19:51856370 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.75C>T (p.Asp25=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624075] Chr19:51354291 [GRCh38]
Chr19:51857545 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.222G>A (p.Thr74=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624087] Chr19:51353285 [GRCh38]
Chr19:51856539 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.669T>C (p.Ser223=) single nucleotide variant ETFB-related disorder [RCV003929300]|Multiple acyl-CoA dehydrogenase deficiency [RCV003624105] Chr19:51345310 [GRCh38]
Chr19:51848564 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.531G>A (p.Leu177=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624059] Chr19:51346966 [GRCh38]
Chr19:51850220 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.438+13T>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624083] Chr19:51350316 [GRCh38]
Chr19:51853570 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.53T>G (p.Val18Gly) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624168] Chr19:51366274 [GRCh38]
Chr19:51869528 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.598-15G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624281] Chr19:51345396 [GRCh38]
Chr19:51848650 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.760C>A (p.Arg254=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624302] Chr19:51345219 [GRCh38]
Chr19:51848473 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.439-1G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624634] Chr19:51347059 [GRCh38]
Chr19:51850313 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.438+12G>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623975] Chr19:51350317 [GRCh38]
Chr19:51853571 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.456G>A (p.Gln152=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625782] Chr19:51347041 [GRCh38]
Chr19:51850295 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-20C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623970] Chr19:51354328 [GRCh38]
Chr19:51857582 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.135G>C (p.Ala45=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003623928] Chr19:51354231 [GRCh38]
Chr19:51857485 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.111C>T (p.Ser37=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624736] Chr19:51354255 [GRCh38]
Chr19:51857509 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.553C>T (p.Leu185=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624747] Chr19:51346944 [GRCh38]
Chr19:51850198 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-7T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624749] Chr19:51345388 [GRCh38]
Chr19:51848642 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.386dup (p.Asp129fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003625201] Chr19:51350380..51350381 [GRCh38]
Chr19:51853634..51853635 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.362del (p.Leu121fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003625798] Chr19:51353145 [GRCh38]
Chr19:51856399 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.747G>A (p.Leu249=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624760] Chr19:51345232 [GRCh38]
Chr19:51848486 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-9C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624774] Chr19:51345390 [GRCh38]
Chr19:51848644 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.12G>C (p.Leu4=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624870] Chr19:51366315 [GRCh38]
Chr19:51869569 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.217-15C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624535] Chr19:51353305 [GRCh38]
Chr19:51856559 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-15C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624573] Chr19:51354323 [GRCh38]
Chr19:51857577 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.216+1G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624540] Chr19:51354149 [GRCh38]
Chr19:51857403 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.648G>T (p.Val216=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624817] Chr19:51345331 [GRCh38]
Chr19:51848585 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.663G>A (p.Lys221=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624814] Chr19:51345316 [GRCh38]
Chr19:51848570 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+9C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625571] Chr19:51346891 [GRCh38]
Chr19:51850145 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-10C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625837] Chr19:51345391 [GRCh38]
Chr19:51848645 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-6G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003624850] Chr19:51345387 [GRCh38]
Chr19:51848641 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-18A>G single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625244] Chr19:51345399 [GRCh38]
Chr19:51848653 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.216+20G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511605] Chr19:51354130 [GRCh38]
Chr19:51857384 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.32dup (p.Arg12fs) duplication Multiple acyl-CoA dehydrogenase deficiency [RCV003476351] Chr19:51366294..51366295 [GRCh38]
Chr19:51869548..51869549 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.208del (p.Gln70fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476357] Chr19:51354158 [GRCh38]
Chr19:51857412 [GRCh37]
Chr19:19q13.41		 likely pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_001985.3(ETFB):c.163A>T (p.Lys55Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476352] Chr19:51354203 [GRCh38]
Chr19:51857457 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.94del (p.Asp32fs) deletion Multiple acyl-CoA dehydrogenase deficiency [RCV003476360] Chr19:51354272 [GRCh38]
Chr19:51857526 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003476353] Chr19:51350361 [GRCh38]
Chr19:51853615 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.552C>G (p.Asp184Glu) single nucleotide variant not provided [RCV003425389] Chr19:51346945 [GRCh38]
Chr19:51850199 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.439-8C>T single nucleotide variant not provided [RCV003415397] Chr19:51347066 [GRCh38]
Chr19:51850320 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.563A>G (p.Asn188Ser) single nucleotide variant not provided [RCV003407089] Chr19:51346934 [GRCh38]
Chr19:51850188 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.33G>A (p.Lys11=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512894] Chr19:51366294 [GRCh38]
Chr19:51869548 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+11C>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625899] Chr19:51366259 [GRCh38]
Chr19:51869513 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.597+17C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513172] Chr19:51346883 [GRCh38]
Chr19:51850137 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.351G>A (p.Val117=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512673] Chr19:51353156 [GRCh38]
Chr19:51856410 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.61C>A (p.Arg21=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512808] Chr19:51354305 [GRCh38]
Chr19:51857559 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.267G>T (p.Val89=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003879958] Chr19:51353240 [GRCh38]
Chr19:51856494 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.690G>A (p.Pro230=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003879453] Chr19:51345289 [GRCh38]
Chr19:51848543 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512823] Chr19:51345273 [GRCh38]
Chr19:51848527 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.598-15G>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512837] Chr19:51345396 [GRCh38]
Chr19:51848650 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.438+7C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513158] Chr19:51350322 [GRCh38]
Chr19:51853576 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.654G>C (p.Leu218=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513769] Chr19:51345325 [GRCh38]
Chr19:51848579 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.72T>A (p.Pro24=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513782] Chr19:51354294 [GRCh38]
Chr19:51857548 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+10C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513357] Chr19:51366260 [GRCh38]
Chr19:51869514 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.156C>G (p.Leu52=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511614] Chr19:51354210 [GRCh38]
Chr19:51857464 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+16T>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003512606] Chr19:51366254 [GRCh38]
Chr19:51869508 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.732C>T (p.Asp244=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513496] Chr19:51345247 [GRCh38]
Chr19:51848501 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.180G>A (p.Glu60=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003513511] Chr19:51354186 [GRCh38]
Chr19:51857440 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.652C>T (p.Leu218=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003511753] Chr19:51345327 [GRCh38]
Chr19:51848581 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.327C>A (p.Ala109=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003625968] Chr19:51353180 [GRCh38]
Chr19:51856434 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.381C>T (p.Ile127=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003852473] Chr19:51350386 [GRCh38]
Chr19:51853640 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.462G>A (p.Thr154=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003851040] Chr19:51347035 [GRCh38]
Chr19:51850289 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.57+9G>A single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003849404] Chr19:51366261 [GRCh38]
Chr19:51869515 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.174G>A (p.Val58=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003813961] Chr19:51354192 [GRCh38]
Chr19:51857446 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.598-8A>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003835813] Chr19:51345389 [GRCh38]
Chr19:51848643 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.12G>A (p.Leu4=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003847487] Chr19:51366315 [GRCh38]
Chr19:51869569 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-12C>T single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003861687] Chr19:51354320 [GRCh38]
Chr19:51857574 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.30C>G (p.Val10=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003862292] Chr19:51366297 [GRCh38]
Chr19:51869551 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.306G>A (p.Leu102=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003864272] Chr19:51353201 [GRCh38]
Chr19:51856455 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.666C>G (p.Leu222=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003857146] Chr19:51345313 [GRCh38]
Chr19:51848567 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.225T>A (p.Ile75=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003847507] Chr19:51353282 [GRCh38]
Chr19:51856536 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.285A>G (p.Glu95=) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003867750] Chr19:51353222 [GRCh38]
Chr19:51856476 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003857880] Chr19:51354188 [GRCh38]
Chr19:51857442 [GRCh37]
Chr19:19q13.41		 pathogenic|likely pathogenic
NM_001985.3(ETFB):c.564C>A (p.Asn188Lys) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV003990087] Chr19:51346933 [GRCh38]
Chr19:51850187 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.177G>A (p.Lys59=) single nucleotide variant ETFB-related disorder [RCV003954767] Chr19:51354189 [GRCh38]
Chr19:51857443 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-195A>C single nucleotide variant ETFB-related disorder [RCV003969783] Chr19:51354503 [GRCh38]
Chr19:51857757 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.58-333A>C single nucleotide variant ETFB-related disorder [RCV003944600] Chr19:51354641 [GRCh38]
Chr19:51857895 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.62G>C (p.Arg21Pro) single nucleotide variant Inborn genetic diseases [RCV004383103] Chr19:51354304 [GRCh38]
Chr19:51857558 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.238G>A (p.Ala80Thr) single nucleotide variant Inborn genetic diseases [RCV004383102] Chr19:51353269 [GRCh38]
Chr19:51856523 [GRCh37]
Chr19:19q13.41		 uncertain significance
NC_000019.9:g.(?_51869504)_(51869580_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004581064] Chr19:51869504..51869580 [GRCh37]
Chr19:19q13.41		 pathogenic
NC_000019.9:g.(?_51850134)_(51869580_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004581065] Chr19:51850134..51869580 [GRCh37]
Chr19:19q13.41		 pathogenic
NC_000019.9:g.(?_51848465)_(51850332_?)del deletion Multiple acyl-CoA dehydrogenase deficiency [RCV004581066] Chr19:51848465..51850332 [GRCh37]
Chr19:19q13.41		 pathogenic
NM_001985.3(ETFB):c.701C>T (p.Thr234Met) single nucleotide variant Inborn genetic diseases [RCV004622710] Chr19:51345278 [GRCh38]
Chr19:51848532 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.341_342delinsT (p.Lys114fs) indel Multiple acyl-CoA dehydrogenase deficiency [RCV004576401] Chr19:51353165..51353166 [GRCh38]
Chr19:51856419..51856420 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.376-2A>C single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency [RCV004576402] Chr19:51350393 [GRCh38]
Chr19:51853647 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.59_63dup duplication Multiple acyl-CoA dehydrogenase deficiency [RCV004576403] Chr19:51354302..51354303 [GRCh38]
Chr19:51857556..51857557 [GRCh37]
Chr19:19q13.41		 likely pathogenic
NM_001985.3(ETFB):c.632C>T (p.Pro211Leu) single nucleotide variant not specified [RCV004587797] Chr19:51345347 [GRCh38]
Chr19:51848601 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-6G>A single nucleotide variant not provided [RCV004726070] Chr19:51354314 [GRCh38]
Chr19:51857568 [GRCh37]
Chr19:19q13.41		 uncertain significance
NM_001985.3(ETFB):c.58-175C>T single nucleotide variant ETFB-related disorder [RCV004752564] Chr19:51354483 [GRCh38]
Chr19:51857737 [GRCh37]
Chr19:19q13.41		 likely benign
NM_001985.3(ETFB):c.164A>G (p.Lys55Arg) single nucleotide variant not provided [RCV004790800] Chr19:51354202 [GRCh38]
Chr19:51857456 [GRCh37]
Chr19:19q13.41		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1149
Count of miRNA genes:575
Interacting mature miRNAs:644
Transcripts:ENST00000309244, ENST00000354232, ENST00000593992, ENST00000594361, ENST00000596253
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407146468GWAS795444_Hadenosine diphosphate measurement QTL GWAS795444 (human)0.0000005adenosine diphosphate measurement195135792251357923Human
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
RH11652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371951,848,442 - 51,848,594UniSTSGRCh37
Build 361956,540,254 - 56,540,406RGDNCBI36
Celera1948,900,047 - 48,900,199RGD
Cytogenetic Map19q13.3UniSTS
HuRef1948,180,396 - 48,180,548UniSTS
GeneMap99-GB4 RH Map19275.75UniSTS
NCBI RH Map19562.5UniSTS
GDB:373700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371951,850,154 - 51,850,312UniSTSGRCh37
Build 361956,541,966 - 56,542,124RGDNCBI36
Celera1948,901,761 - 48,901,919RGD
Cytogenetic Map19q13.3UniSTS
HuRef1948,182,141 - 48,182,299UniSTS
D11S2766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map4q26UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054320189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG281641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG399783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB887243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC944652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X71129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000309244   ⟹   ENSP00000311930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,345,169 - 51,366,388 (-)Ensembl
Ensembl Acc Id: ENST00000354232   ⟹   ENSP00000346173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,345,169 - 51,357,106 (-)Ensembl
Ensembl Acc Id: ENST00000593992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,350,187 - 51,366,349 (-)Ensembl
Ensembl Acc Id: ENST00000594361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,345,688 - 51,348,530 (-)Ensembl
Ensembl Acc Id: ENST00000596253   ⟹   ENSP00000469628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,345,285 - 51,366,366 (-)Ensembl
RefSeq Acc Id: NM_001014763   ⟹   NP_001014763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,345,155 - 51,354,842 (-)NCBI
GRCh371951,848,409 - 51,869,672 (-)ENTREZGENE
Build 361956,540,221 - 56,549,908 (-)NCBI Archive
HuRef1948,180,363 - 48,201,646 (-)ENTREZGENE
CHM1_11951,850,304 - 51,860,060 (-)NCBI
T2T-CHM13v2.01954,433,439 - 54,443,495 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001985   ⟹   NP_001976
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,345,169 - 51,366,388 (-)NCBI
GRCh371951,848,409 - 51,869,672 (-)ENTREZGENE
Build 361956,540,221 - 56,561,484 (-)NCBI Archive
HuRef1948,180,363 - 48,201,646 (-)ENTREZGENE
CHM1_11951,850,304 - 51,871,634 (-)NCBI
T2T-CHM13v2.01954,433,453 - 54,455,031 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451418   ⟹   XP_024307186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,345,169 - 51,366,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054320189   ⟹   XP_054176164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01954,433,453 - 54,454,773 (-)NCBI
RefSeq Acc Id: NP_001976   ⟸   NM_001985
- Peptide Label: isoform 1
- UniProtKB: Q71RF6 (UniProtKB/Swiss-Prot),   Q6IBH7 (UniProtKB/Swiss-Prot),   B3KNY2 (UniProtKB/Swiss-Prot),   A8K766 (UniProtKB/Swiss-Prot),   Q9Y3S7 (UniProtKB/Swiss-Prot),   P38117 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001014763   ⟸   NM_001014763
- Peptide Label: isoform 2
- UniProtKB: P38117 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024307186   ⟸   XM_024451418
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000469628   ⟸   ENST00000596253
Ensembl Acc Id: ENSP00000311930   ⟸   ENST00000309244
Ensembl Acc Id: ENSP00000346173   ⟸   ENST00000354232
RefSeq Acc Id: XP_054176164   ⟸   XM_054320189
- Peptide Label: isoform X1
Protein Domains
Electron transfer flavoprotein alpha/beta-subunit N-

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P38117-F1-model_v2 AlphaFold P38117 1-255 view protein structure

Promoters
RGD ID:13205353
Promoter ID:EPDNEW_H26257
Type:initiation region
Name:ETFB_2
Description:electron transfer flavoprotein beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26258  EPDNEW_H26259  EPDNEW_H26261  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,354,310 - 51,354,370EPDNEW
RGD ID:13205355
Promoter ID:EPDNEW_H26258
Type:initiation region
Name:ETFB_4
Description:electron transfer flavoprotein beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26257  EPDNEW_H26259  EPDNEW_H26261  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,354,789 - 51,354,849EPDNEW
RGD ID:13205357
Promoter ID:EPDNEW_H26259
Type:initiation region
Name:ETFB_1
Description:electron transfer flavoprotein beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26257  EPDNEW_H26258  EPDNEW_H26261  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,366,353 - 51,366,413EPDNEW
RGD ID:13205361
Promoter ID:EPDNEW_H26261
Type:initiation region
Name:ETFB_3
Description:electron transfer flavoprotein beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26257  EPDNEW_H26258  EPDNEW_H26259  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,368,074 - 51,368,134EPDNEW
RGD ID:6795533
Promoter ID:HG_KWN:30688
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001985
Position:
Human AssemblyChrPosition (strand)Source
Build 361956,561,319 - 56,561,819 (-)MPROMDB
RGD ID:6853240
Promoter ID:EP74441
Type:initiation region
Name:HS_ETFB
Description:Electron-transfer-flavoprotein, beta polypeptide.
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 361956,561,409 - 56,561,469EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3482 AgrOrtholog
COSMIC ETFB COSMIC
Ensembl Genes ENSG00000105379 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000309244 ENTREZGENE
  ENST00000309244.9 UniProtKB/Swiss-Prot
  ENST00000354232 ENTREZGENE
  ENST00000354232.8 UniProtKB/Swiss-Prot
  ENST00000596253.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105379 GTEx
HGNC ID HGNC:3482 ENTREZGENE
Human Proteome Map ETFB Human Proteome Map
InterPro ET-Flavoprotein_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_a/b_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETF_beta_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2109 UniProtKB/Swiss-Prot
NCBI Gene 2109 ENTREZGENE
OMIM 130410 OMIM
PANTHER ELECTRON TRANSFER FLAVOPROTEIN SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21294 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ETF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27898 PharmGKB
PIRSF Beta-ETF UniProtKB/Swiss-Prot
PROSITE ETF_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ETF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Adenine nucleotide alpha hydrolases-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K766 ENTREZGENE
  B3KNY2 ENTREZGENE
  ETFB_HUMAN UniProtKB/Swiss-Prot
  M0QY67_HUMAN UniProtKB/TrEMBL
  P38117 ENTREZGENE
  Q6IBH7 ENTREZGENE
  Q71RF6 ENTREZGENE
  Q9Y3S7 ENTREZGENE
UniProt Secondary A8K766 UniProtKB/Swiss-Prot
  B3KNY2 UniProtKB/Swiss-Prot
  Q6IBH7 UniProtKB/Swiss-Prot
  Q71RF6 UniProtKB/Swiss-Prot
  Q9Y3S7 UniProtKB/Swiss-Prot


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