DLD (dihydrolipoamide dehydrogenase) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DLD (dihydrolipoamide dehydrogenase) Homo sapiens
Analyze
Symbol: DLD
Name: dihydrolipoamide dehydrogenase
RGD ID: 1348290
HGNC Page HGNC
Description: Exhibits dihydrolipoyl dehydrogenase activity. Contributes to pyruvate dehydrogenase (NAD+) activity. Involved in histone succinylation. Localizes to several cellular components, including mitochondrion; oxoglutarate dehydrogenase complex; and pyruvate dehydrogenase complex. Implicated in maple syrup urine disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: diaphorase; dihydrolipoyl dehydrogenase, mitochondrial; DLDD; DLDH; E3; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex; GCSL; glycine cleavage system L protein; glycine cleavage system protein L; LAD; lipoamide dehydrogenase; lipoamide reductase; lipoyl dehydrogenase; OGDC-E3; PHE3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7107,891,162 - 107,931,730 (+)EnsemblGRCh38hg38GRCh38
GRCh387107,891,107 - 107,921,198 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377107,531,552 - 107,561,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,318,822 - 107,348,879 (+)NCBINCBI36hg18NCBI36
Build 347107,125,561 - 107,154,360NCBI
Celera7102,338,571 - 102,368,626 (+)NCBI
Cytogenetic Map7q31.1NCBI
HuRef7101,894,030 - 101,924,084 (+)NCBIHuRef
CHM1_17107,465,273 - 107,495,360 (+)NCBICHM1_1
CRA_TCAGchr7v27106,892,712 - 106,922,768 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(aminooxy)acetic acid  (ISO)
(R)-lipoic acid  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (ISO)
5-methoxyindole-2-carboxylic acid  (ISO)
acetamide  (ISO)
acrolein  (EXP)
alpha-pinene  (EXP)
AM-251  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bleomycin A2  (ISO)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (ISO)
chromium(6+)  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dibenzo[a,l]pyrene  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylenediaminetetraacetic acid  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fructose  (ISO)
genistein  (ISO)
gentamycin  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
irinotecan  (ISO)
isotretinoin  (EXP)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
lipoic acid  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
phlorizin  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sarin  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
thapsigargin  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
zearalenone  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
2-aminoadipic 2-oxoadipic aciduria pathway  (EXP)
3-hydroxy-3-methylglutaryl-CoA lyase deficiency pathway  (EXP)
3-hydroxyisobutyric aciduria pathway  (EXP)
3-methylcrotonyl CoA carboxylase 1 deficiency pathway  (EXP)
3-methylglutaconic aciduria type 1 pathway  (EXP)
3-methylglutaconic aciduria type 3 pathway  (EXP)
citric acid cycle pathway  (EXP,IEA,TAS)
dihydropyrimidine dehydrogenase deficiency pathway  (EXP)
dimethylglycine dehydrogenase deficiency pathway  (EXP)
folate cycle metabolic pathway  (TAS)
fumaric aciduria pathway  (EXP)
gluconeogenesis pathway  (IEA)
glutaric aciduria type I pathway  (EXP)
glycine, serine and threonine metabolic pathway  (IEA)
glycolysis pathway  (IEA)
glycolysis/gluconeogenesis pathway  (IEA)
hyperlysinemia pathway  (EXP)
isobutyryl-CoA dehydrogenase deficiency pathway  (EXP)
isovaleric acidemia pathway  (EXP)
Leigh disease pathway  (EXP)
lysine degradation pathway  (EXP)
malonic aciduria pathway  (EXP)
maple syrup urine disease pathway  (EXP)
methylmalonate semialdehyde dehydrogenase deficiency pathway  (EXP)
methylmalonic acidemia pathway  (EXP)
methylmalonic aciduria, cobalamin-related pathway  (EXP)
mitochondrial complex II deficiency pathway  (EXP)
nonketotic hyperglycinemia pathway  (EXP)
primary hyperoxaluria type 2 pathway  (EXP)
propanoate metabolic pathway  (EXP)
propionic acidemia pathway  (EXP)
pyruvate decarboxylase deficiency pathway  (EXP)
pyruvate dehydrogenase E1 deficiency pathway  (EXP)
pyruvate dehydrogenase E2 deficiency pathway  (EXP)
pyruvate dehydrogenase E3 deficiency pathway  (EXP)
pyruvate kinase deficiency of red cells pathway  (EXP)
pyruvate metabolic pathway  (EXP,IEA,TAS)
saccharopinuria pathway  (EXP)
sarcosinemia pathway  (EXP)
valine, leucine and isoleucine degradation pathway  (EXP,IEA)

References

Additional References at PubMed
PMID:1332063   PMID:1993704   PMID:2055113   PMID:2188967   PMID:3278312   PMID:3693355   PMID:6897145   PMID:7273846   PMID:8125298   PMID:8406489   PMID:8506365   PMID:8619544  
PMID:9040023   PMID:9242632   PMID:9727038   PMID:9934985   PMID:11935326   PMID:12297006   PMID:12477932   PMID:12601813   PMID:12676647   PMID:12690205   PMID:14638692   PMID:15389771  
PMID:15576032   PMID:15712224   PMID:15826505   PMID:15946682   PMID:16263718   PMID:16396496   PMID:16442803   PMID:16584639   PMID:17171578   PMID:17207965   PMID:17404228   PMID:17960497  
PMID:18029348   PMID:19122664   PMID:19405953   PMID:19738201   PMID:20228799   PMID:20652410   PMID:20833797   PMID:20877624   PMID:21543315   PMID:21873635   PMID:21930696   PMID:22304920  
PMID:22586326   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23128233   PMID:23475850   PMID:24012808   PMID:24337577   PMID:25032271   PMID:25147182   PMID:25192599   PMID:25202086  
PMID:25921289   PMID:26078703   PMID:26186194   PMID:26344197   PMID:26425749   PMID:26496610   PMID:26725010   PMID:27303803   PMID:27342126   PMID:27684187   PMID:28247484   PMID:28330616  
PMID:28514442   PMID:28581483   PMID:28675297   PMID:28718761   PMID:28883622   PMID:29128334   PMID:29211711   PMID:29229926   PMID:29449217   PMID:29509794   PMID:29511261   PMID:30021884  
PMID:30455355   PMID:30463901   PMID:30575818   PMID:30619736   PMID:30948266   PMID:31091453   PMID:31353912   PMID:31501420   PMID:31536960   PMID:31931284   PMID:32129710   PMID:32203420  
PMID:32296183   PMID:32780723   PMID:32788342   PMID:32814053  


Genomics

Comparative Map Data
DLD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7107,891,162 - 107,931,730 (+)EnsemblGRCh38hg38GRCh38
GRCh387107,891,107 - 107,921,198 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377107,531,552 - 107,561,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367107,318,822 - 107,348,879 (+)NCBINCBI36hg18NCBI36
Build 347107,125,561 - 107,154,360NCBI
Celera7102,338,571 - 102,368,626 (+)NCBI
Cytogenetic Map7q31.1NCBI
HuRef7101,894,030 - 101,924,084 (+)NCBIHuRef
CHM1_17107,465,273 - 107,495,360 (+)NCBICHM1_1
CRA_TCAGchr7v27106,892,712 - 106,922,768 (+)NCBI
Dld
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391231,381,561 - 31,401,470 (-)NCBIGRCm39mm39
GRCm39 Ensembl1231,381,276 - 31,401,452 (-)Ensembl
GRCm381231,331,562 - 31,351,471 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1231,331,277 - 31,351,453 (-)EnsemblGRCm38mm10GRCm38
MGSCv371232,016,427 - 32,036,302 (-)NCBIGRCm37mm9NCBIm37
MGSCv361231,917,620 - 31,937,454 (-)NCBImm8
Celera1232,779,653 - 32,799,528 (-)NCBICelera
Cytogenetic Map12A2NCBI
cM Map1213.43NCBI
Dld
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2647,904,153 - 47,924,814 (-)NCBI
Rnor_6.0 Ensembl650,597,677 - 50,618,694 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0650,597,677 - 50,618,694 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0659,273,427 - 59,293,925 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4649,185,188 - 49,205,894 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1649,188,314 - 49,209,020 (-)NCBI
Celera647,106,161 - 47,126,575 (-)NCBICelera
Cytogenetic Map6q16NCBI
Dld
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541012,212,963 - 12,238,561 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541012,212,981 - 12,238,561 (+)NCBIChiLan1.0ChiLan1.0
DLD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17112,593,934 - 112,623,629 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7112,593,934 - 112,623,629 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0799,872,020 - 99,901,884 (+)NCBIMhudiblu_PPA_v0panPan3
DLD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11812,703,340 - 12,734,408 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1812,703,341 - 12,734,479 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1812,347,573 - 12,378,642 (-)NCBI
ROS_Cfam_1.01812,974,872 - 13,005,942 (-)NCBI
UMICH_Zoey_3.11812,791,797 - 12,823,078 (-)NCBI
UNSW_CanFamBas_1.01812,712,079 - 12,743,105 (-)NCBI
UU_Cfam_GSD_1.01812,939,857 - 12,971,151 (-)NCBI
Dld
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511855,123,461 - 55,147,834 (-)NCBI
SpeTri2.0NW_00493647916,247,230 - 16,271,597 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9107,642,095 - 107,673,583 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19107,642,129 - 107,668,443 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29118,410,873 - 118,437,344 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DLD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12176,795,573 - 76,825,504 (+)NCBI
ChlSab1.1 Ensembl2176,795,592 - 76,824,923 (+)Ensembl
Vero_WHO_p1.0NW_02366604227,037,869 - 27,067,933 (-)NCBI
Dld
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473921,842,897 - 21,873,334 (-)NCBI

Position Markers
D7S2771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,560,027 - 107,560,359UniSTSGRCh37
Build 367107,347,263 - 107,347,595RGDNCBI36
Celera7102,367,010 - 102,367,342RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,922,468 - 101,922,800UniSTS
CRA_TCAGchr7v27106,921,152 - 106,921,484UniSTS
TNG Radiation Hybrid Map747216.0UniSTS
Stanford-G3 RH Map75273.0UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
Whitehead-RH Map7484.9UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71089.7UniSTS
GeneMap99-G3 RH Map75273.0UniSTS
WIAF-2151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,560,076 - 107,560,286UniSTSGRCh37
Build 367107,347,312 - 107,347,522RGDNCBI36
Celera7102,367,059 - 102,367,269RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,922,517 - 101,922,727UniSTS
CRA_TCAGchr7v27106,921,201 - 106,921,411UniSTS
GeneMap99-GB4 RH Map7526.64UniSTS
RH80342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,561,421 - 107,561,620UniSTSGRCh37
Build 367107,348,657 - 107,348,856RGDNCBI36
Celera7102,368,404 - 102,368,603RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,923,862 - 101,924,061UniSTS
CRA_TCAGchr7v27106,922,546 - 106,922,745UniSTS
GeneMap99-GB4 RH Map7528.08UniSTS
RH102910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,561,426 - 107,561,606UniSTSGRCh37
Build 367107,348,662 - 107,348,842RGDNCBI36
Celera7102,368,409 - 102,368,589RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,923,867 - 101,924,047UniSTS
CRA_TCAGchr7v27106,922,551 - 106,922,731UniSTS
GeneMap99-GB4 RH Map7529.99UniSTS
RH103475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,539,573 - 107,539,720UniSTSGRCh37
Build 367107,326,809 - 107,326,956RGDNCBI36
Celera7102,346,556 - 102,346,703RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,902,015 - 101,902,162UniSTS
CRA_TCAGchr7v27106,900,697 - 106,900,844UniSTS
GeneMap99-GB4 RH Map7527.16UniSTS
G54025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,559,839 - 107,560,002UniSTSGRCh37
Build 367107,347,075 - 107,347,238RGDNCBI36
Celera7102,366,822 - 102,366,985RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,922,280 - 101,922,443UniSTS
CRA_TCAGchr7v27106,920,964 - 106,921,127UniSTS
IB1079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,560,046 - 107,560,297UniSTSGRCh37
Build 367107,347,282 - 107,347,533RGDNCBI36
Celera7102,367,029 - 102,367,280RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,922,487 - 101,922,738UniSTS
CRA_TCAGchr7v27106,921,171 - 106,921,422UniSTS
TNG Radiation Hybrid Map747224.0UniSTS
Stanford-G3 RH Map75257.0UniSTS
NCBI RH Map71089.7UniSTS
GeneMap99-G3 RH Map75257.0UniSTS
D7S1572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,547,350 - 107,547,445UniSTSGRCh37
Build 367107,334,586 - 107,334,681RGDNCBI36
Celera7102,354,333 - 102,354,428RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,909,792 - 101,909,887UniSTS
CRA_TCAGchr7v27106,908,474 - 106,908,569UniSTS
DLD  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,559,766 - 107,559,961UniSTSGRCh37
Build 367107,347,002 - 107,347,197RGDNCBI36
Celera7102,366,749 - 102,366,944RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,922,207 - 101,922,402UniSTS
CRA_TCAGchr7v27106,920,891 - 106,921,086UniSTS
D7S2064E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377107,560,641 - 107,560,733UniSTSGRCh37
Build 367107,347,877 - 107,347,969RGDNCBI36
Celera7102,367,624 - 102,367,716RGD
Cytogenetic Map7q31-q32UniSTS
HuRef7101,923,082 - 101,923,174UniSTS
CRA_TCAGchr7v27106,921,766 - 106,921,858UniSTS
Stanford-G3 RH Map75326.0UniSTS
NCBI RH Map71083.5UniSTS
GeneMap99-G3 RH Map75326.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2388
Count of miRNA genes:972
Interacting mature miRNAs:1215
Transcripts:ENST00000205402, ENST00000415325, ENST00000417551, ENST00000437604, ENST00000440410, ENST00000450038, ENST00000451081, ENST00000453354, ENST00000460577, ENST00000478414, ENST00000485066, ENST00000489184, ENST00000494441, ENST00000537148
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2434 2431 1706 607 1461 448 4357 2137 3342 410 1451 1608 175 1 1203 2788 6 2
Low 5 560 20 17 490 17 60 392 9 9 5 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI562331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC354209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ901028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M99384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000205402   ⟹   ENSP00000205402
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,183 - 107,921,198 (+)Ensembl
RefSeq Acc Id: ENST00000415325   ⟹   ENSP00000402593
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,164 - 107,919,593 (+)Ensembl
RefSeq Acc Id: ENST00000417551   ⟹   ENSP00000390667
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,164 - 107,931,730 (+)Ensembl
RefSeq Acc Id: ENST00000437604   ⟹   ENSP00000387542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,174 - 107,919,655 (+)Ensembl
RefSeq Acc Id: ENST00000440410   ⟹   ENSP00000417016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,173 - 107,919,713 (+)Ensembl
RefSeq Acc Id: ENST00000450038   ⟹   ENSP00000409590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,186 - 107,905,058 (+)Ensembl
RefSeq Acc Id: ENST00000451081   ⟹   ENSP00000388077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,186 - 107,915,595 (+)Ensembl
RefSeq Acc Id: ENST00000453354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,186 - 107,904,997 (+)Ensembl
RefSeq Acc Id: ENST00000460577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,217 - 107,903,776 (+)Ensembl
RefSeq Acc Id: ENST00000478414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,903,503 - 107,905,763 (+)Ensembl
RefSeq Acc Id: ENST00000485066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,162 - 107,893,554 (+)Ensembl
RefSeq Acc Id: ENST00000489184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,904,668 - 107,906,369 (+)Ensembl
RefSeq Acc Id: ENST00000494441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,430 - 107,905,389 (+)Ensembl
RefSeq Acc Id: ENST00000639772   ⟹   ENSP00000492159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7107,891,172 - 107,903,569 (+)Ensembl
RefSeq Acc Id: NM_000108   ⟹   NP_000099
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,891,183 - 107,921,198 (+)NCBI
GRCh377107,531,586 - 107,561,643 (+)ENTREZGENE
Build 367107,318,822 - 107,348,879 (+)NCBI Archive
HuRef7101,894,030 - 101,924,084 (+)ENTREZGENE
CHM1_17107,465,273 - 107,495,360 (+)NCBI
CRA_TCAGchr7v27106,892,712 - 106,922,768 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001289750   ⟹   NP_001276679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,891,107 - 107,921,198 (+)NCBI
CHM1_17107,465,273 - 107,495,360 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289751   ⟹   NP_001276680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,891,107 - 107,921,198 (+)NCBI
CHM1_17107,465,273 - 107,495,360 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289752   ⟹   NP_001276681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,891,107 - 107,921,198 (+)NCBI
CHM1_17107,465,273 - 107,495,360 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000099   ⟸   NM_000108
- Peptide Label: isoform 1 precursor
- UniProtKB: P09622 (UniProtKB/Swiss-Prot),   A0A024R713 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276681   ⟸   NM_001289752
- Peptide Label: isoform 4
- UniProtKB: P09622 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276680   ⟸   NM_001289751
- Peptide Label: isoform 3
- UniProtKB: P09622 (UniProtKB/Swiss-Prot),   E9PEX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276679   ⟸   NM_001289750
- Peptide Label: isoform 2
- UniProtKB: P09622 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000387542   ⟸   ENST00000437604
RefSeq Acc Id: ENSP00000409590   ⟸   ENST00000450038
RefSeq Acc Id: ENSP00000388077   ⟸   ENST00000451081
RefSeq Acc Id: ENSP00000492159   ⟸   ENST00000639772
RefSeq Acc Id: ENSP00000417016   ⟸   ENST00000440410
RefSeq Acc Id: ENSP00000402593   ⟸   ENST00000415325
RefSeq Acc Id: ENSP00000205402   ⟸   ENST00000205402
RefSeq Acc Id: ENSP00000390667   ⟸   ENST00000417551
Protein Domains
Pyr_redox_2   Pyr_redox_dim

Promoters
RGD ID:6805452
Promoter ID:HG_KWN:59237
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:OTTHUMT00000337194,   OTTHUMT00000337195,   OTTHUMT00000337196,   OTTHUMT00000337198,   OTTHUMT00000337199,   OTTHUMT00000337200,   OTTHUMT00000337201,   OTTHUMT00000337203,   OTTHUMT00000337204,   OTTHUMT00000337206,   UC010LJM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,317,981 - 107,319,057 (+)MPROMDB
RGD ID:6850878
Promoter ID:EP73234
Type:initiation region
Name:HS_DLD
Description:Dihydrolipoamide dehydrogenase (E3 component of pyruvatedehydrogenase complex, 2-oxo-glutarate complex, branched chainketo acid dehydrogenase complex).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 367107,318,841 - 107,318,901EPD
RGD ID:7211643
Promoter ID:EPDNEW_H11567
Type:initiation region
Name:DLD_1
Description:dihydrolipoamide dehydrogenase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387107,891,183 - 107,891,243EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) single nucleotide variant Maple syrup urine disease, type 3 [RCV000033216] Chr7:107919071 [GRCh38]
Chr7:107559516 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly) single nucleotide variant Maple syrup urine disease, type 3 [RCV000033217] Chr7:107919079 [GRCh38]
Chr7:107559524 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.140T>C (p.Ile47Thr) single nucleotide variant Maple syrup urine disease, type 3 [RCV000033218] Chr7:107901759 [GRCh38]
Chr7:107542204 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.214A>G (p.Lys72Glu) single nucleotide variant Maple syrup urine disease, type 3 [RCV000012742] Chr7:107902340 [GRCh38]
Chr7:107542785 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) single nucleotide variant Maple syrup urine disease, type 3 [RCV000012743] Chr7:107919098 [GRCh38]
Chr7:107559543 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) single nucleotide variant DLD-Related Disorders [RCV000301987]|Inborn genetic diseases [RCV000624277]|Maple syrup urine disease, type 3 [RCV000012744]|not provided [RCV000185853] Chr7:107915506 [GRCh38]
Chr7:107555951 [GRCh37]
Chr7:7q31.1
pathogenic
DLD, 1-BP INS, 105A insertion Maple syrup urine disease, type 3 [RCV000012745] Chr7:7q31-q32 pathogenic
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly) single nucleotide variant Maple syrup urine disease, type 3 [RCV000012746] Chr7:107919212 [GRCh38]
Chr7:107559657 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.1178T>C (p.Ile393Thr) single nucleotide variant Maple syrup urine disease, type 3 [RCV000012747] Chr7:107917404 [GRCh38]
Chr7:107557849 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.875+1G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000012749] Chr7:107915697 [GRCh38]
Chr7:107556142 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) single nucleotide variant DLD-Related Disorders [RCV000778816]|Inborn genetic diseases [RCV001266054]|Maple syrup urine disease, type 3 [RCV000012751]|not provided [RCV000185859] Chr7:107917349 [GRCh38]
Chr7:107557794 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000108.5(DLD):c.1081A>G (p.Met361Val) single nucleotide variant Maple syrup urine disease, type 3 [RCV000012752] Chr7:107917307 [GRCh38]
Chr7:107557752 [GRCh37]
Chr7:7q31.1
pathogenic
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1 copy number loss See cases [RCV000054158] Chr7:106261939..111228036 [GRCh38]
Chr7:105902385..110868092 [GRCh37]
Chr7:105689621..110655328 [NCBI36]
Chr7:7q22.3-31.1
pathogenic
NM_000108.5(DLD):c.249T>C (p.Val83=) single nucleotide variant Leigh syndrome [RCV000344385]|Maple syrup urine disease, type 3 [RCV000999961]|Pyruvate dehydrogenase complex deficiency [RCV000393062]|not provided [RCV000676798]|not specified [RCV000124687] Chr7:107902375 [GRCh38]
Chr7:107542820 [GRCh37]
Chr7:7q31.1
benign|likely benign|uncertain significance
NM_000108.5(DLD):c.338-18T>A single nucleotide variant not specified [RCV000124688] Chr7:107904940 [GRCh38]
Chr7:107545385 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.439-7T>C single nucleotide variant Leigh syndrome [RCV000355848]|Maple syrup urine disease, type 3 [RCV000611867]|Pyruvate dehydrogenase complex deficiency [RCV000264516]|not provided [RCV000676799]|not specified [RCV000179713] Chr7:107905354 [GRCh38]
Chr7:107545799 [GRCh37]
Chr7:7q31.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_000108.5(DLD):c.543A>T (p.Ile181=) single nucleotide variant Leigh syndrome [RCV000261104]|Maple syrup urine disease, type 3 [RCV000999887]|Pyruvate dehydrogenase complex deficiency [RCV000388010]|not provided [RCV000676800]|not specified [RCV000179714] Chr7:107905465 [GRCh38]
Chr7:107545910 [GRCh37]
Chr7:7q31.1
benign|likely benign|uncertain significance
NM_000108.5(DLD):c.684+7G>A single nucleotide variant Leigh syndrome [RCV000345292]|Maple syrup urine disease, type 3 [RCV000381208]|Pyruvate dehydrogenase complex deficiency [RCV000290221]|not provided [RCV000676801]|not specified [RCV000124691] Chr7:107906375 [GRCh38]
Chr7:107546820 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.685-14T>A single nucleotide variant Leigh syndrome [RCV000341290]|Maple syrup urine disease, type 3 [RCV001001841]|Pyruvate dehydrogenase complex deficiency [RCV000286283]|not specified [RCV000124692] Chr7:107915492 [GRCh38]
Chr7:107555937 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.777A>G (p.Lys259=) single nucleotide variant Leigh syndrome [RCV001161964]|Maple syrup urine disease, type 3 [RCV001081205]|Pyruvate dehydrogenase complex deficiency [RCV001161963]|not provided [RCV000676802]|not specified [RCV000124693] Chr7:107915598 [GRCh38]
Chr7:107556043 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.1236+13A>G single nucleotide variant not specified [RCV000124694] Chr7:107917475 [GRCh38]
Chr7:107557920 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.1351C>T (p.Leu451=) single nucleotide variant Leigh syndrome [RCV000270612]|Maple syrup urine disease, type 3 [RCV000325649]|Pyruvate dehydrogenase complex deficiency [RCV000383620]|not provided [RCV000676804]|not specified [RCV000124695] Chr7:107918038 [GRCh38]
Chr7:107558483 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.1422A>C (p.Gly474=) single nucleotide variant Leigh syndrome [RCV001159069]|Maple syrup urine disease, type 3 [RCV001000277]|Pyruvate dehydrogenase complex deficiency [RCV001159068]|not provided [RCV000676805]|not specified [RCV000124696] Chr7:107919057 [GRCh38]
Chr7:107559502 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.*18A>T single nucleotide variant Leigh syndrome [RCV000279168]|Maple syrup urine disease, type 3 [RCV000616747]|Pyruvate dehydrogenase complex deficiency [RCV000350587]|not provided [RCV000590748]|not specified [RCV000124697] Chr7:107919277 [GRCh38]
Chr7:107559722 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) single nucleotide variant Leigh syndrome [RCV000269642]|Maple syrup urine disease, type 3 [RCV001085257]|Pyruvate dehydrogenase complex deficiency [RCV000324743]|not provided [RCV000676797]|not specified [RCV000124698] Chr7:107891284 [GRCh38]
Chr7:107531729 [GRCh37]
Chr7:7q31.1
benign|likely benign|uncertain significance
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr) single nucleotide variant Maple syrup urine disease, type 3 [RCV001332192] Chr7:107919074 [GRCh38]
Chr7:107559519 [GRCh37]
Chr7:7q31.1
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 copy number loss See cases [RCV000142628] Chr7:105575647..107949294 [GRCh38]
Chr7:105216094..107589739 [GRCh37]
Chr7:105003330..107376975 [NCBI36]
Chr7:7q22.3-31.1
uncertain significance
NM_000108.5(DLD):c.675T>C (p.Gly225=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000947058]|not specified [RCV000185844] Chr7:107906359 [GRCh38]
Chr7:107546804 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.869A>G (p.Asp290Gly) single nucleotide variant not specified [RCV000185845] Chr7:107915690 [GRCh38]
Chr7:107556135 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) single nucleotide variant Leigh syndrome [RCV000281549]|Maple syrup urine disease, type 3 [RCV000376021]|Pyruvate dehydrogenase complex deficiency [RCV000317845]|not provided [RCV000487629]|not specified [RCV000367820] Chr7:107893260 [GRCh38]
Chr7:107533705 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.*18del deletion not specified [RCV000185847] Chr7:107919277 [GRCh38]
Chr7:107559722 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.306T>A (p.His102Gln) single nucleotide variant not provided [RCV000185851] Chr7:107903516 [GRCh38]
Chr7:107543961 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.4(DLD):c.494C>T (p.Thr165Met) single nucleotide variant not specified [RCV000185852] Chr7:107905416 [GRCh38]
Chr7:107545861 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.722C>T (p.Ala241Val) single nucleotide variant not specified [RCV000185854] Chr7:107915543 [GRCh38]
Chr7:107555988 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.763A>C (p.Met255Leu) single nucleotide variant Leigh syndrome [RCV000408335]|Maple syrup urine disease, type 3 [RCV001086796]|Pyruvate dehydrogenase complex deficiency [RCV000298315]|not provided [RCV000185855] Chr7:107915584 [GRCh38]
Chr7:107556029 [GRCh37]
Chr7:7q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000108.5(DLD):c.788G>A (p.Arg263His) single nucleotide variant Leigh syndrome [RCV001161965]|Maple syrup urine disease, type 3 [RCV000653827]|Pyruvate dehydrogenase complex deficiency [RCV001161966]|not provided [RCV000676803] Chr7:107915609 [GRCh38]
Chr7:107556054 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) single nucleotide variant Maple syrup urine disease, type 3 [RCV001086452]|not provided [RCV000185857] Chr7:107915647 [GRCh38]
Chr7:107556092 [GRCh37]
Chr7:7q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000108.5(DLD):c.82T>C (p.Ser28Pro) single nucleotide variant not provided [RCV000185858] Chr7:107893242 [GRCh38]
Chr7:107533687 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1291A>G (p.Thr431Ala) single nucleotide variant not provided [RCV000185860] Chr7:107917978 [GRCh38]
Chr7:107558423 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.182C>T (p.Ala61Val) single nucleotide variant not provided [RCV000185848] Chr7:107901801 [GRCh38]
Chr7:107542246 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.185A>G (p.Gln62Arg) single nucleotide variant not provided [RCV000185849] Chr7:107901804 [GRCh38]
Chr7:107542249 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.4(DLD):c.217A>C (p.Asn73His) single nucleotide variant not provided [RCV000185850] Chr7:107902343 [GRCh38]
Chr7:107542788 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) single nucleotide variant Maple syrup urine disease, type 3 [RCV001277173]|not provided [RCV000185861] Chr7:107919017 [GRCh38]
Chr7:107559462 [GRCh37]
Chr7:7q31.1
likely pathogenic|uncertain significance
NM_000108.5(DLD):c.1236+7C>T single nucleotide variant not specified [RCV000600483] Chr7:107917469 [GRCh38]
Chr7:107557914 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.*1736T>C single nucleotide variant Leigh syndrome [RCV000380454]|Maple syrup urine disease, type 3 [RCV000283475]|Pyruvate dehydrogenase complex deficiency [RCV000340859] Chr7:107920995 [GRCh38]
Chr7:107561440 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.*947G>T single nucleotide variant Leigh syndrome [RCV000332301]|Maple syrup urine disease, type 3 [RCV000275277]|Pyruvate dehydrogenase complex deficiency [RCV000386065] Chr7:107920206 [GRCh38]
Chr7:107560651 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.105C>T (p.Tyr35=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000937022]|not specified [RCV000252044] Chr7:107893265 [GRCh38]
Chr7:107533710 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.*1688G>A single nucleotide variant Leigh syndrome [RCV000329448]|Maple syrup urine disease, type 3 [RCV000272023]|Pyruvate dehydrogenase complex deficiency [RCV000369006] Chr7:107920947 [GRCh38]
Chr7:107561392 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.*1451T>C single nucleotide variant Leigh syndrome [RCV000370203]|Maple syrup urine disease, type 3 [RCV000312034]|Pyruvate dehydrogenase complex deficiency [RCV000276849] Chr7:107920710 [GRCh38]
Chr7:107561155 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*207G>A single nucleotide variant Leigh syndrome [RCV000358247]|Maple syrup urine disease, type 3 [RCV000267242]|Pyruvate dehydrogenase complex deficiency [RCV000324559] Chr7:107919466 [GRCh38]
Chr7:107559911 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*1092C>T single nucleotide variant Leigh syndrome [RCV000339878]|Maple syrup urine disease, type 3 [RCV000300180]|Pyruvate dehydrogenase complex deficiency [RCV000399965] Chr7:107920351 [GRCh38]
Chr7:107560796 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*978T>C single nucleotide variant Leigh syndrome [RCV000328083]|Maple syrup urine disease, type 3 [RCV000288290]|Pyruvate dehydrogenase complex deficiency [RCV000384986] Chr7:107920237 [GRCh38]
Chr7:107560682 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*487C>T single nucleotide variant Leigh syndrome [RCV000393003]|Maple syrup urine disease, type 3 [RCV000347564]|Pyruvate dehydrogenase complex deficiency [RCV000290158] Chr7:107919746 [GRCh38]
Chr7:107560191 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.677T>C (p.Val226Ala) single nucleotide variant Leigh syndrome [RCV000329949]|Maple syrup urine disease, type 3 [RCV000384659]|Pyruvate dehydrogenase complex deficiency [RCV000274781] Chr7:107906361 [GRCh38]
Chr7:107546806 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.-8G>T single nucleotide variant Leigh syndrome [RCV000367380]|Maple syrup urine disease, type 3 [RCV000405448]|Pyruvate dehydrogenase complex deficiency [RCV000309229] Chr7:107891243 [GRCh38]
Chr7:107531688 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.117G>A (p.Pro39=) single nucleotide variant Leigh syndrome [RCV000386565]|Maple syrup urine disease, type 3 [RCV000293134]|Pyruvate dehydrogenase complex deficiency [RCV000348029] Chr7:107893277 [GRCh38]
Chr7:107533722 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*855C>T single nucleotide variant Leigh syndrome [RCV000353302]|Maple syrup urine disease, type 3 [RCV000260770]|Pyruvate dehydrogenase complex deficiency [RCV000319444] Chr7:107920114 [GRCh38]
Chr7:107560559 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.*648G>A single nucleotide variant Leigh syndrome [RCV000359139]|Maple syrup urine disease, type 3 [RCV000262043]|Pyruvate dehydrogenase complex deficiency [RCV000302064] Chr7:107919907 [GRCh38]
Chr7:107560352 [GRCh37]
Chr7:7q31.1
benign|uncertain significance
NM_000108.5(DLD):c.860G>A (p.Gly287Glu) single nucleotide variant Leigh syndrome [RCV000313980]|Maple syrup urine disease, type 3 [RCV000277653]|Pyruvate dehydrogenase complex deficiency [RCV000353225] Chr7:107915681 [GRCh38]
Chr7:107556126 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*28G>T single nucleotide variant Leigh syndrome [RCV000313165]|Maple syrup urine disease, type 3 [RCV000365418]|Pyruvate dehydrogenase complex deficiency [RCV000392922] Chr7:107919287 [GRCh38]
Chr7:107559732 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*1877A>G single nucleotide variant Leigh syndrome [RCV000366005]|Maple syrup urine disease, type 3 [RCV000308860]|Pyruvate dehydrogenase complex deficiency [RCV000391649] Chr7:107921136 [GRCh38]
Chr7:107561581 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.116C>T (p.Pro39Leu) single nucleotide variant Leigh syndrome [RCV000371459]|Maple syrup urine disease, type 3 [RCV000295703]|Pyruvate dehydrogenase complex deficiency [RCV000350667] Chr7:107893276 [GRCh38]
Chr7:107533721 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*470G>A single nucleotide variant Leigh syndrome [RCV000348657]|Maple syrup urine disease, type 3 [RCV000401807]|Pyruvate dehydrogenase complex deficiency [RCV000296036] Chr7:107919729 [GRCh38]
Chr7:107560174 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.*1857A>C single nucleotide variant Leigh syndrome [RCV000352477]|Maple syrup urine disease, type 3 [RCV000313976]|Pyruvate dehydrogenase complex deficiency [RCV000398521] Chr7:107921116 [GRCh38]
Chr7:107561561 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*225C>T single nucleotide variant Leigh syndrome [RCV000318777]|Maple syrup urine disease, type 3 [RCV000265942]|Pyruvate dehydrogenase complex deficiency [RCV000375475] Chr7:107919484 [GRCh38]
Chr7:107559929 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.74A>C (p.Gln25Pro) single nucleotide variant Leigh syndrome [RCV000266066]|Maple syrup urine disease, type 3 [RCV000321362]|Pyruvate dehydrogenase complex deficiency [RCV000360727] Chr7:107893234 [GRCh38]
Chr7:107533679 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1791_*1794del deletion Leigh syndrome [RCV000282155]|Maple syrup urine disease [RCV000374539]|Pyruvate dehydrogenase complex deficiency [RCV000335124] Chr7:107921050..107921053 [GRCh38]
Chr7:107561495..107561498 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1307C>T single nucleotide variant Leigh syndrome [RCV000338714]|Maple syrup urine disease, type 3 [RCV000408008]|Pyruvate dehydrogenase complex deficiency [RCV000299103] Chr7:107920566 [GRCh38]
Chr7:107561011 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1503G>A (p.Ala501=) single nucleotide variant Leigh syndrome [RCV000282664]|Maple syrup urine disease, type 3 [RCV000376969]|Pyruvate dehydrogenase complex deficiency [RCV000337641] Chr7:107919232 [GRCh38]
Chr7:107559677 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1724C>G single nucleotide variant Leigh syndrome [RCV000270720]|Maple syrup urine disease, type 3 [RCV000381646]|Pyruvate dehydrogenase complex deficiency [RCV000323562] Chr7:107920983 [GRCh38]
Chr7:107561428 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln) single nucleotide variant Leigh syndrome [RCV000274169]|Maple syrup urine disease, type 3 [RCV000368770]|Pyruvate dehydrogenase complex deficiency [RCV000329018] Chr7:107917454 [GRCh38]
Chr7:107557899 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*355A>G single nucleotide variant Leigh syndrome [RCV000278861]|Maple syrup urine disease, type 3 [RCV000317557]|Pyruvate dehydrogenase complex deficiency [RCV000388349] Chr7:107919614 [GRCh38]
Chr7:107560059 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.267+15del deletion Leigh syndrome [RCV000304750]|Maple syrup urine disease [RCV000359444]|Pyruvate dehydrogenase complex deficiency [RCV000393088] Chr7:107902405 [GRCh38]
Chr7:107542850 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*167T>C single nucleotide variant Leigh syndrome [RCV000307241]|Maple syrup urine disease, type 3 [RCV000364131]|Pyruvate dehydrogenase complex deficiency [RCV000404165] Chr7:107919426 [GRCh38]
Chr7:107559871 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*498T>G single nucleotide variant Leigh syndrome [RCV000360355]|Maple syrup urine disease, type 3 [RCV000392998]|Pyruvate dehydrogenase complex deficiency [RCV000307920] Chr7:107919757 [GRCh38]
Chr7:107560202 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1465-7C>G single nucleotide variant Leigh syndrome [RCV000286136]|Maple syrup urine disease, type 3 [RCV000380507]|Pyruvate dehydrogenase complex deficiency [RCV000322294] Chr7:107919187 [GRCh38]
Chr7:107559632 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1088A>G single nucleotide variant Leigh syndrome [RCV000345560]|Maple syrup urine disease, type 3 [RCV000287023]|Pyruvate dehydrogenase complex deficiency [RCV000379115] Chr7:107920347 [GRCh38]
Chr7:107560792 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_002291.3(LAMB1):c.5225-7C>T single nucleotide variant Leigh syndrome [RCV000363636]|Maple syrup urine disease [RCV000276408]|Pyruvate dehydrogenase complex deficiency [RCV000325321]|not specified [RCV000423681] Chr7:107924094 [GRCh38]
Chr7:107564539 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) duplication Maple syrup urine disease, type 3 [RCV000409901] Chr7:107893263..107893264 [GRCh38]
Chr7:107533708..107533709 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
NM_000108.5(DLD):c.39+1G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000411628] Chr7:107891290 [GRCh38]
Chr7:107531735 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.82del (p.Ser28fs) deletion Maple syrup urine disease, type 3 [RCV000410571] Chr7:107893240 [GRCh38]
Chr7:107533685 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.223dup (p.Thr75fs) duplication Maple syrup urine disease, type 3 [RCV000410633] Chr7:107902346..107902347 [GRCh38]
Chr7:107542791..107542792 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1516_1519TCAA[1] (p.Ile507fs) microsatellite Maple syrup urine disease, type 3 [RCV000411445] Chr7:107919243..107919246 [GRCh38]
Chr7:107559688..107559691 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.112C>T (p.Gln38Ter) single nucleotide variant DLD-Related Disorders [RCV000778815]|Maple syrup urine disease, type 3 [RCV000411685] Chr7:107893272 [GRCh38]
Chr7:107533717 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic|uncertain significance
NM_000108.5(DLD):c.633dup (p.Val212fs) duplication Maple syrup urine disease, type 3 [RCV000411898] Chr7:107906310..107906311 [GRCh38]
Chr7:107546755..107546756 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000108.5(DLD):c.1395T>C (p.Asn465=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000884996]|not specified [RCV000423802] Chr7:107919030 [GRCh38]
Chr7:107559475 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.-42C>T single nucleotide variant not specified [RCV000418096] Chr7:107891209 [GRCh38]
Chr7:107531654 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.282C>T (p.Asn94=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000969527]|not specified [RCV000428347] Chr7:107903492 [GRCh38]
Chr7:107543937 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) single nucleotide variant not specified [RCV000440748] Chr7:107917408 [GRCh38]
Chr7:107557853 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.321A>G (p.Ala107=) single nucleotide variant Leigh syndrome [RCV001160216]|Maple syrup urine disease, type 3 [RCV000898845]|Pyruvate dehydrogenase complex deficiency [RCV001163571]|not specified [RCV000444255] Chr7:107903531 [GRCh38]
Chr7:107543976 [GRCh37]
Chr7:7q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000108.5(DLD):c.-7C>G single nucleotide variant not specified [RCV000434105] Chr7:107891244 [GRCh38]
Chr7:107531689 [GRCh37]
Chr7:7q31.1
likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_000108.5(DLD):c.803_804del (p.Gln268fs) deletion Maple syrup urine disease, type 3 [RCV000984256]|not provided [RCV000482561] Chr7:107915624..107915625 [GRCh38]
Chr7:107556069..107556070 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
NM_000108.5(DLD):c.236C>T (p.Thr79Ile) single nucleotide variant not specified [RCV000481326] Chr7:107902362 [GRCh38]
Chr7:107542807 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys) single nucleotide variant Maple syrup urine disease, type 3 [RCV000675101]|not provided [RCV000484591] Chr7:107901780 [GRCh38]
Chr7:107542225 [GRCh37]
Chr7:7q31.1
likely pathogenic|uncertain significance
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV000984255]|not provided [RCV000479643] Chr7:107893265 [GRCh38]
Chr7:107533710 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.209T>C (p.Ile70Thr) single nucleotide variant not specified [RCV000487126] Chr7:107902335 [GRCh38]
Chr7:107542780 [GRCh37]
Chr7:7q31.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000108.5(DLD):c.119-4G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000907139]|not specified [RCV000604076] Chr7:107901734 [GRCh38]
Chr7:107542179 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.198+1G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000672274] Chr7:107901818 [GRCh38]
Chr7:107542263 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.507C>T (p.Gly169=) single nucleotide variant Leigh syndrome [RCV001163901]|Maple syrup urine disease, type 3 [RCV000973950]|Pyruvate dehydrogenase complex deficiency [RCV001163900]|not specified [RCV000613642] Chr7:107905429 [GRCh38]
Chr7:107545874 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.-31G>A single nucleotide variant not specified [RCV000609368] Chr7:107891220 [GRCh38]
Chr7:107531665 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.345del (p.Val116fs) deletion Maple syrup urine disease, type 3 [RCV000664881] Chr7:107904964 [GRCh38]
Chr7:107545409 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg) single nucleotide variant Maple syrup urine disease, type 3 [RCV000673550] Chr7:107919257 [GRCh38]
Chr7:107559702 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.865dup (p.Ile289fs) duplication Maple syrup urine disease, type 3 [RCV000674045] Chr7:107915681..107915682 [GRCh38]
Chr7:107556126..107556127 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer) deletion Maple syrup urine disease, type 3 [RCV000668459] Chr7:107893265 [GRCh38]
Chr7:107533710 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.1236+1G>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000668468] Chr7:107917463 [GRCh38]
Chr7:107557908 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1444_1445AG[1] (p.Arg482fs) microsatellite Maple syrup urine disease, type 3 [RCV000666030] Chr7:107919079..107919080 [GRCh38]
Chr7:107559524..107559525 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.338-2_338-1delinsT indel Maple syrup urine disease, type 3 [RCV000666189] Chr7:107904956..107904957 [GRCh38]
Chr7:107545401..107545402 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs) deletion Maple syrup urine disease, type 3 [RCV000670137] Chr7:107919064..107919067 [GRCh38]
Chr7:107559509..107559512 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.118+1G>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000673830] Chr7:107893279 [GRCh38]
Chr7:107533724 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1463del (p.Pro488fs) deletion Maple syrup urine disease, type 3 [RCV000674332] Chr7:107919097 [GRCh38]
Chr7:107559542 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.439-6G>C single nucleotide variant Maple syrup urine disease, type 3 [RCV000671120] Chr7:107905355 [GRCh38]
Chr7:107545800 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.199-1G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000667967] Chr7:107902324 [GRCh38]
Chr7:107542769 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1421del (p.Gly474fs) deletion Maple syrup urine disease, type 3 [RCV000671440] Chr7:107919055 [GRCh38]
Chr7:107559500 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.4(DLD):c.-110-307A>T single nucleotide variant not provided [RCV000676796] Chr7:107890834 [GRCh38]
Chr7:107531279 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.268-2A>G single nucleotide variant Maple syrup urine disease, type 3 [RCV000672166] Chr7:107903476 [GRCh38]
Chr7:107543921 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1440A>G (p.Ile480Met) single nucleotide variant Maple syrup urine disease, type 3 [RCV000665255] Chr7:107919075 [GRCh38]
Chr7:107559520 [GRCh37]
Chr7:7q31.1
uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) single nucleotide variant Leigh syndrome [RCV001163783]|Maple syrup urine disease, type 3 [RCV000701637]|Pyruvate dehydrogenase complex deficiency [RCV001163784] Chr7:107893215 [GRCh38]
Chr7:107533660 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.12G>A (p.Trp4Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV000693958] Chr7:107891262 [GRCh38]
Chr7:107531707 [GRCh37]
Chr7:7q31.1
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000108.5(DLD):c.1005T>C (p.Gly335=) single nucleotide variant not provided [RCV000940187] Chr7:107916923 [GRCh38]
Chr7:107557368 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.268-7C>T single nucleotide variant not provided [RCV000928667] Chr7:107903471 [GRCh38]
Chr7:107543916 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.654T>C (p.Val218=) single nucleotide variant not provided [RCV000906361] Chr7:107906338 [GRCh38]
Chr7:107546783 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.1374+9T>A single nucleotide variant not provided [RCV000982942] Chr7:107918070 [GRCh38]
Chr7:107558515 [GRCh37]
Chr7:7q31.1
likely benign
GRCh37/hg19 7q31.1(chr7:107441501-108433812)x1 copy number loss not provided [RCV001005992] Chr7:107441501..108433812 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1340_1343CAGA[1] (p.Asp448fs) microsatellite Maple syrup urine disease, type 3 [RCV001061776] Chr7:107918025..107918028 [GRCh38]
Chr7:107558470..107558473 [GRCh37]
Chr7:7q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000108.5(DLD):c.1528dup (p.Ter510LeuextTer?) duplication DLD-Related Disorders [RCV000778817] Chr7:107919253..107919254 [GRCh38]
Chr7:107559698..107559699 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.36C>T (p.Ala12=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000907984] Chr7:107891286 [GRCh38]
Chr7:107531731 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.204C>G (p.Val68=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000977225] Chr7:107902330 [GRCh38]
Chr7:107542775 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.285T>C (p.Ser95=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000983087] Chr7:107903495 [GRCh38]
Chr7:107543940 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.57A>T (p.Arg19=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000980122] Chr7:107893217 [GRCh38]
Chr7:107533662 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.1443T>G (p.Ala481=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000975669] Chr7:107919078 [GRCh38]
Chr7:107559523 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) single nucleotide variant Maple syrup urine disease, type 3 [RCV000793434] Chr7:107905392 [GRCh38]
Chr7:107545837 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.367A>G (p.Met123Val) single nucleotide variant Maple syrup urine disease, type 3 [RCV000804795] Chr7:107904987 [GRCh38]
Chr7:107545432 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.199-6T>C single nucleotide variant not provided [RCV000840128] Chr7:107902319 [GRCh38]
Chr7:107542764 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.684+1G>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000984992] Chr7:107906369 [GRCh38]
Chr7:107546814 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.597A>T (p.Thr199=) single nucleotide variant Maple syrup urine disease, type 3 [RCV001277154]|not provided [RCV000915511] Chr7:107906281 [GRCh38]
Chr7:107546726 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.337+216C>G single nucleotide variant not provided [RCV000843916] Chr7:107903763 [GRCh38]
Chr7:107544208 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.684+189G>C single nucleotide variant not provided [RCV000843919] Chr7:107906557 [GRCh38]
Chr7:107547002 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.96G>C (p.Leu32=) single nucleotide variant Maple syrup urine disease, type 3 [RCV001079031]|not provided [RCV000840745] Chr7:107893256 [GRCh38]
Chr7:107533701 [GRCh37]
Chr7:7q31.1
likely benign
NC_000007.14:g.107890834A>T single nucleotide variant not provided [RCV000834992] Chr7:107531279 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) single nucleotide variant Maple syrup urine disease, type 3 [RCV000805811] Chr7:107915635 [GRCh38]
Chr7:107556080 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1145A>T single nucleotide variant Leigh syndrome [RCV001164271]|Maple syrup urine disease, type 3 [RCV001159359]|Pyruvate dehydrogenase complex deficiency [RCV001159358] Chr7:107920404 [GRCh38]
Chr7:107560849 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.520A>G (p.Ile174Val) single nucleotide variant Leigh syndrome [RCV001163903]|Maple syrup urine disease, type 3 [RCV001158971]|Pyruvate dehydrogenase complex deficiency [RCV001163902] Chr7:107905442 [GRCh38]
Chr7:107545887 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*739G>A single nucleotide variant Leigh syndrome [RCV001164167]|Maple syrup urine disease, type 3 [RCV001164168]|Pyruvate dehydrogenase complex deficiency [RCV001164166] Chr7:107919998 [GRCh38]
Chr7:107560443 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*845G>A single nucleotide variant Leigh syndrome [RCV001159268]|Maple syrup urine disease, type 3 [RCV001164169]|Pyruvate dehydrogenase complex deficiency [RCV001164170] Chr7:107920104 [GRCh38]
Chr7:107560549 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.267+235C>T single nucleotide variant not provided [RCV000830553] Chr7:107902628 [GRCh38]
Chr7:107543073 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.1047-13_1047-5del deletion Maple syrup urine disease, type 3 [RCV000982061] Chr7:107917258..107917266 [GRCh38]
Chr7:107557703..107557711 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.199-7G>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000939799] Chr7:107902318 [GRCh38]
Chr7:107542763 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.337+105A>G single nucleotide variant not provided [RCV000837913] Chr7:107903652 [GRCh38]
Chr7:107544097 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.684+124A>G single nucleotide variant not provided [RCV000835515] Chr7:107906492 [GRCh38]
Chr7:107546937 [GRCh37]
Chr7:7q31.1
benign
NC_000007.14:g.(?_107901728)_(107906378_?)del deletion Maple syrup urine disease, type 3 [RCV001031606] Chr7:107542173..107546823 [GRCh37]
Chr7:7q31.1
pathogenic
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32
pathogenic
NM_000108.5(DLD):c.*1505C>T single nucleotide variant Leigh syndrome [RCV001164386]|Maple syrup urine disease, type 3 [RCV001162344]|Pyruvate dehydrogenase complex deficiency [RCV001164387] Chr7:107920764 [GRCh38]
Chr7:107561209 [GRCh37]
Chr7:7q31.1
uncertain significance
GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1 copy number loss not provided [RCV000846765] Chr7:107410314..117825549 [GRCh37]
Chr7:7q31.1-31.31
pathogenic
NM_000108.5(DLD):c.-10C>T single nucleotide variant Leigh syndrome [RCV001160119]|Maple syrup urine disease, type 3 [RCV001160118]|Pyruvate dehydrogenase complex deficiency [RCV001163464] Chr7:107891241 [GRCh38]
Chr7:107531686 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.30C>A (p.Ser10=) single nucleotide variant Leigh syndrome [RCV001163467]|Maple syrup urine disease, type 3 [RCV001163465]|Pyruvate dehydrogenase complex deficiency [RCV001163466] Chr7:107891280 [GRCh38]
Chr7:107531725 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*394A>G single nucleotide variant Leigh syndrome [RCV001159168]|Maple syrup urine disease, type 3 [RCV001159167]|Pyruvate dehydrogenase complex deficiency [RCV001159166] Chr7:107919653 [GRCh38]
Chr7:107560098 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*470G>T single nucleotide variant Leigh syndrome [RCV001160519]|Maple syrup urine disease, type 3 [RCV001160520]|Pyruvate dehydrogenase complex deficiency [RCV001160521] Chr7:107919729 [GRCh38]
Chr7:107560174 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*1640A>G single nucleotide variant Leigh syndrome [RCV001164390]|Maple syrup urine disease, type 3 [RCV001164388]|Pyruvate dehydrogenase complex deficiency [RCV001164389] Chr7:107920899 [GRCh38]
Chr7:107561344 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.1011T>C (p.Ile337=) single nucleotide variant not provided [RCV000982804] Chr7:107916929 [GRCh38]
Chr7:107557374 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.1266A>G (p.Pro422=) single nucleotide variant Maple syrup urine disease, type 3 [RCV001277155]|not provided [RCV000945008] Chr7:107917953 [GRCh38]
Chr7:107558398 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.903T>C (p.Ala301=) single nucleotide variant not provided [RCV000907109] Chr7:107916821 [GRCh38]
Chr7:107557266 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.583-3C>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000974754] Chr7:107906264 [GRCh38]
Chr7:107546709 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.519T>G (p.Val173=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000974781] Chr7:107905441 [GRCh38]
Chr7:107545886 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.267+9G>A single nucleotide variant Maple syrup urine disease, type 3 [RCV000907295] Chr7:107902402 [GRCh38]
Chr7:107542847 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.375G>A (p.Glu125=) single nucleotide variant Leigh syndrome [RCV001163573]|Maple syrup urine disease, type 3 [RCV000928867]|Pyruvate dehydrogenase complex deficiency [RCV001163572] Chr7:107904995 [GRCh38]
Chr7:107545440 [GRCh37]
Chr7:7q31.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000108.5(DLD):c.1452T>C (p.Cys484=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000898842] Chr7:107919087 [GRCh38]
Chr7:107559532 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.1492A>C (p.Asn498His) single nucleotide variant Maple syrup urine disease, type 3 [RCV001242217] Chr7:107919221 [GRCh38]
Chr7:107559666 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs) indel Maple syrup urine disease, type 3 [RCV001245168] Chr7:107903518..107903520 [GRCh38]
Chr7:107543963..107543965 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.*1401G>T single nucleotide variant Leigh syndrome [RCV001160728]|Maple syrup urine disease, type 3 [RCV001160730]|Pyruvate dehydrogenase complex deficiency [RCV001160729] Chr7:107920660 [GRCh38]
Chr7:107561105 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.583-1G>C single nucleotide variant Maple syrup urine disease, type 3 [RCV001243773] Chr7:107906266 [GRCh38]
Chr7:107546711 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1500T>C (p.Ala500=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000913851] Chr7:107919229 [GRCh38]
Chr7:107559674 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.549G>A (p.Thr183=) single nucleotide variant Maple syrup urine disease, type 3 [RCV000911789] Chr7:107905471 [GRCh38]
Chr7:107545916 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.876-6A>T single nucleotide variant Maple syrup urine disease, type 3 [RCV000912663] Chr7:107916788 [GRCh38]
Chr7:107557233 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.471T>G (p.Thr157=) single nucleotide variant not provided [RCV000912887] Chr7:107905393 [GRCh38]
Chr7:107545838 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.951C>G (p.Pro317=) single nucleotide variant not provided [RCV000889217] Chr7:107916869 [GRCh38]
Chr7:107557314 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.226C>T (p.Leu76Phe) single nucleotide variant Leigh syndrome [RCV001160214]|Maple syrup urine disease, type 3 [RCV001160213]|Pyruvate dehydrogenase complex deficiency [RCV001160215] Chr7:107902352 [GRCh38]
Chr7:107542797 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*887T>C single nucleotide variant Leigh syndrome [RCV001159270]|Maple syrup urine disease, type 3 [RCV001159271]|Pyruvate dehydrogenase complex deficiency [RCV001159269] Chr7:107920146 [GRCh38]
Chr7:107560591 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.*374G>T single nucleotide variant Leigh syndrome [RCV001159164]|Maple syrup urine disease, type 3 [RCV001159165]|Pyruvate dehydrogenase complex deficiency [RCV001159163] Chr7:107919633 [GRCh38]
Chr7:107560078 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1300A>G single nucleotide variant Leigh syndrome [RCV001159365]|Maple syrup urine disease, type 3 [RCV001159364]|Pyruvate dehydrogenase complex deficiency [RCV001159363] Chr7:107920559 [GRCh38]
Chr7:107561004 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.*474T>C single nucleotide variant Leigh syndrome [RCV001160523]|Maple syrup urine disease, type 3 [RCV001160522]|Pyruvate dehydrogenase complex deficiency [RCV001160524] Chr7:107919733 [GRCh38]
Chr7:107560178 [GRCh37]
Chr7:7q31.1
benign|likely benign
NM_000108.5(DLD):c.*1876G>A single nucleotide variant Leigh syndrome [RCV001160821]|Maple syrup urine disease, type 3 [RCV001160823]|Pyruvate dehydrogenase complex deficiency [RCV001160822] Chr7:107921135 [GRCh38]
Chr7:107561580 [GRCh37]
Chr7:7q31.1
likely benign|uncertain significance
NM_000108.5(DLD):c.*1027T>G single nucleotide variant Leigh syndrome [RCV001162242]|Maple syrup urine disease, type 3 [RCV001162244]|Pyruvate dehydrogenase complex deficiency [RCV001162243] Chr7:107920286 [GRCh38]
Chr7:107560731 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1422C>T single nucleotide variant Leigh syndrome [RCV001162343]|Maple syrup urine disease, type 3 [RCV001160732]|Pyruvate dehydrogenase complex deficiency [RCV001160731] Chr7:107920681 [GRCh38]
Chr7:107561126 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.857A>G (p.Asp286Gly) single nucleotide variant Maple syrup urine disease, type 3 [RCV001197744] Chr7:107915678 [GRCh38]
Chr7:107556123 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.821dup (p.Leu274fs) duplication Maple syrup urine disease, type 3 [RCV001233616] Chr7:107915640..107915641 [GRCh38]
Chr7:107556085..107556086 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.946C>T (p.Arg316Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001059731] Chr7:107916864 [GRCh38]
Chr7:107557309 [GRCh37]
Chr7:7q31.1
pathogenic
NM_000108.5(DLD):c.*898C>T single nucleotide variant Leigh syndrome [RCV001160630]|Maple syrup urine disease, type 3 [RCV001160631]|Pyruvate dehydrogenase complex deficiency [RCV001159272] Chr7:107920157 [GRCh38]
Chr7:107560602 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1231A>G single nucleotide variant Leigh syndrome [RCV001159362]|Maple syrup urine disease, type 3 [RCV001159361]|Pyruvate dehydrogenase complex deficiency [RCV001159360] Chr7:107920490 [GRCh38]
Chr7:107560935 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1313T>C (p.Met438Thr) single nucleotide variant Leigh syndrome [RCV001163988]|Maple syrup urine disease, type 3 [RCV001163989]|Pyruvate dehydrogenase complex deficiency [RCV001163990] Chr7:107918000 [GRCh38]
Chr7:107558445 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs) deletion Maple syrup urine disease, type 3 [RCV001042237] Chr7:107919047..107919053 [GRCh38]
Chr7:107559492..107559498 [GRCh37]
Chr7:7q31.1
pathogenic|likely pathogenic
NM_000108.5(DLD):c.305A>T (p.His102Leu) single nucleotide variant Maple syrup urine disease, type 3 [RCV001038724] Chr7:107903515 [GRCh38]
Chr7:107543960 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.*1074C>G single nucleotide variant Leigh syndrome [RCV001162245]|Maple syrup urine disease, type 3 [RCV001162246]|Pyruvate dehydrogenase complex deficiency [RCV001164270] Chr7:107920333 [GRCh38]
Chr7:107560778 [GRCh37]
Chr7:7q31.1
benign
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001264097] Chr7:107917331 [GRCh38]
Chr7:107557776 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001264098] Chr7:107917345 [GRCh38]
Chr7:107557790 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.325A>T (p.Arg109Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001263933] Chr7:107903535 [GRCh38]
Chr7:107543980 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.748G>T (p.Gly250Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001263934] Chr7:107915569 [GRCh38]
Chr7:107556014 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.802C>T (p.Gln268Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001263935] Chr7:107915623 [GRCh38]
Chr7:107556068 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.936C>A (p.Cys312Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001263937] Chr7:107916854 [GRCh38]
Chr7:107557299 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.904G>T (p.Glu302Ter) single nucleotide variant Maple syrup urine disease, type 3 [RCV001263936] Chr7:107916822 [GRCh38]
Chr7:107557267 [GRCh37]
Chr7:7q31.1
likely pathogenic
NM_000108.5(DLD):c.191G>C (p.Gly64Ala) single nucleotide variant Maple syrup urine disease, type 3 [RCV001278048] Chr7:107901810 [GRCh38]
Chr7:107542255 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro) single nucleotide variant Maple syrup urine disease, type 3 [RCV001329026] Chr7:107919200 [GRCh38]
Chr7:107559645 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.508G>A (p.Gly170Ser) single nucleotide variant Maple syrup urine disease, type 3 [RCV001278049] Chr7:107905430 [GRCh38]
Chr7:107545875 [GRCh37]
Chr7:7q31.1
likely benign
NM_000108.5(DLD):c.597A>G (p.Thr199=) single nucleotide variant Maple syrup urine disease, type 3 [RCV001278050] Chr7:107906281 [GRCh38]
Chr7:107546726 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.656T>C (p.Ile219Thr) single nucleotide variant Maple syrup urine disease, type 3 [RCV001329027] Chr7:107906340 [GRCh38]
Chr7:107546785 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.316T>A (p.Phe106Ile) single nucleotide variant not provided [RCV001358276] Chr7:107903526 [GRCh38]
Chr7:107543971 [GRCh37]
Chr7:7q31.1
uncertain significance
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu) single nucleotide variant Maple syrup urine disease, type 3 [RCV001278051] Chr7:107918020 [GRCh38]
Chr7:107558465 [GRCh37]
Chr7:7q31.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2898 AgrOrtholog
COSMIC DLD COSMIC
Ensembl Genes ENSG00000091140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000205402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000387542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388077 UniProtKB/TrEMBL
  ENSP00000390667 UniProtKB/Swiss-Prot
  ENSP00000402593 UniProtKB/TrEMBL
  ENSP00000409590 UniProtKB/TrEMBL
  ENSP00000417016 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000492159 UniProtKB/TrEMBL
Ensembl Transcript ENST00000205402 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415325 UniProtKB/TrEMBL
  ENST00000417551 UniProtKB/Swiss-Prot
  ENST00000437604 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000440410 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000450038 UniProtKB/TrEMBL
  ENST00000451081 UniProtKB/TrEMBL
  ENST00000639772 UniProtKB/TrEMBL
Gene3D-CATH 3.30.390.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091140 GTEx
HGNC ID HGNC:2898 ENTREZGENE
Human Proteome Map DLD Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-linked_Rdtase_dimer_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipoamide_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_nuc-diS_OxRdtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_nucl-diS_OxRdtase_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_OxRdtase_I_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1738 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1738 ENTREZGENE
OMIM 238331 OMIM
  246900 OMIM
Pfam Pyr_redox_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_redox_dim UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27352 PharmGKB
PIRSF Mercury_reductase_MerA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PYRIDINE_REDOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs lipoamide_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R713 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PR83_HUMAN UniProtKB/TrEMBL
  DLDH_HUMAN UniProtKB/Swiss-Prot
  E9PEX6 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2E3_HUMAN UniProtKB/TrEMBL
  F8WDM5_HUMAN UniProtKB/TrEMBL
  F8WDY5_HUMAN UniProtKB/TrEMBL
  P09622 ENTREZGENE
UniProt Secondary B2R5X0 UniProtKB/Swiss-Prot
  B4DHG0 UniProtKB/Swiss-Prot
  B4DT69 UniProtKB/Swiss-Prot
  Q14131 UniProtKB/Swiss-Prot
  Q14167 UniProtKB/Swiss-Prot
  Q59EV8 UniProtKB/Swiss-Prot
  Q8WTS4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 DLD  dihydrolipoamide dehydrogenase  GCSL  glycine cleavage system protein L  Data Merged 737654 PROVISIONAL
2011-08-16 DLD  dihydrolipoamide dehydrogenase  DLD  dihydrolipoamide dehydrogenase  Symbol and/or name change 5135510 APPROVED