PDHX (pyruvate dehydrogenase complex component X) - Rat Genome Database

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Gene: PDHX (pyruvate dehydrogenase complex component X) Homo sapiens
Analyze
Symbol: PDHX
Name: pyruvate dehydrogenase complex component X
RGD ID: 1352009
HGNC Page HGNC:21350
Description: Contributes to pyruvate dehydrogenase (NAD+) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrial pyruvate dehydrogenase complex. Part of pyruvate dehydrogenase complex. Implicated in pyruvate decarboxylase deficiency and sarcoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; DLDBP; E3BP; lipoyl-containing pyruvate dehydrogenase complex component X; OPDX; PDHXD; PDX1; proX; pyruvate dehydrogenase complex, component X; pyruvate dehydrogenase complex, E3-binding protein subunit; pyruvate dehydrogenase complex, lipoyl-containing component X; pyruvate dehydrogenase protein X component, mitochondrial
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
GRCh381134,915,920 - 34,996,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1134,915,829 - 35,020,591 (+)EnsemblGRCh38hg38GRCh38
GRCh371134,937,985 - 35,017,675 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361134,894,741 - 34,974,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341134,894,740 - 34,974,092NCBI
Celera1135,085,014 - 35,165,000 (+)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1134,636,155 - 34,716,134 (+)NCBIHuRef
CHM1_11134,935,934 - 35,015,929 (+)NCBICHM1_1
T2T-CHM13v2.01135,054,373 - 35,134,137 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Regulation of mammalian pyruvate dehydrogenase complex by phosphorylation: complexity of multiple phosphorylation sites and kinases. Patel MS and Korotchkina LG, Exp Mol Med. 2001 Dec 31;33(4):191-7.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. A phase II study of ENMD-2076 in advanced soft tissue sarcoma (STS). Veitch Z, etal., Sci Rep. 2019 May 14;9(1):7390. doi: 10.1038/s41598-019-43222-6.
Additional References at PubMed
PMID:2112155   PMID:7273846   PMID:7864652   PMID:8584393   PMID:8619474   PMID:9110174   PMID:9242632   PMID:9399911   PMID:9467010   PMID:10568747   PMID:11756538   PMID:11935326  
PMID:12372595   PMID:12477932   PMID:12573248   PMID:12676647   PMID:12816949   PMID:14638692   PMID:14702039   PMID:15489334   PMID:16189514   PMID:16263718   PMID:16344560   PMID:16442803  
PMID:16566017   PMID:16629643   PMID:16843025   PMID:16904023   PMID:19240034   PMID:20800603   PMID:20877624   PMID:21194677   PMID:21516116   PMID:21873635   PMID:21988832   PMID:22496890  
PMID:22658674   PMID:22766002   PMID:22939629   PMID:23443559   PMID:24534072   PMID:24639526   PMID:24755837   PMID:24935220   PMID:25087164   PMID:25416956   PMID:25525879   PMID:25544563  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26549023   PMID:28380382   PMID:28514442   PMID:28718761   PMID:29511261   PMID:29568061   PMID:30012170   PMID:30196744   PMID:30997501  
PMID:31091453   PMID:31515488   PMID:31536960   PMID:31753913   PMID:31871319   PMID:32129710   PMID:32296183   PMID:32628020   PMID:32707033   PMID:32877691   PMID:32994395   PMID:33378683  
PMID:33845483   PMID:33957083   PMID:33961781   PMID:33964039   PMID:34079125   PMID:34138529   PMID:34709727   PMID:34728620   PMID:35012549   PMID:35124280   PMID:35831314   PMID:35944360  
PMID:36114006   PMID:36215168   PMID:36307841   PMID:36889194   PMID:37931956  


Genomics

Comparative Map Data
PDHX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381134,915,920 - 34,996,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1134,915,829 - 35,020,591 (+)EnsemblGRCh38hg38GRCh38
GRCh371134,937,985 - 35,017,675 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361134,894,741 - 34,974,095 (+)NCBINCBI36Build 36hg18NCBI36
Build 341134,894,740 - 34,974,092NCBI
Celera1135,085,014 - 35,165,000 (+)NCBICelera
Cytogenetic Map11p13NCBI
HuRef1134,636,155 - 34,716,134 (+)NCBIHuRef
CHM1_11134,935,934 - 35,015,929 (+)NCBICHM1_1
T2T-CHM13v2.01135,054,373 - 35,134,137 (+)NCBIT2T-CHM13v2.0
Pdhx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392102,851,400 - 102,903,858 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2102,851,420 - 102,903,858 (-)EnsemblGRCm39 Ensembl
GRCm382103,021,055 - 103,073,513 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2103,021,075 - 103,073,513 (-)EnsemblGRCm38mm10GRCm38
MGSCv372102,861,212 - 102,913,670 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362102,821,916 - 102,874,350 (-)NCBIMGSCv36mm8
Celera2104,263,925 - 104,317,607 (-)NCBICelera
Cytogenetic Map2E2NCBI
cM Map254.25NCBI
Pdhx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83109,826,579 - 109,886,869 (-)NCBIGRCr8
mRatBN7.2389,372,248 - 89,431,779 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl389,371,497 - 89,431,773 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx392,871,545 - 92,931,032 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03101,470,579 - 101,530,066 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0399,294,402 - 99,359,002 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0392,910,300 - 92,933,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl392,909,725 - 92,969,050 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0399,552,950 - 99,576,700 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4388,240,250 - 88,270,914 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera388,451,544 - 88,474,645 (-)NCBICelera
Cytogenetic Map3q32NCBI
Pdhx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542211,335,766 - 11,405,565 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542211,335,766 - 11,405,565 (-)NCBIChiLan1.0ChiLan1.0
PDHX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2937,137,062 - 37,216,510 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11137,141,767 - 37,221,219 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01134,889,242 - 34,968,886 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11134,764,450 - 34,844,166 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1134,764,450 - 34,844,166 (+)Ensemblpanpan1.1panPan2
PDHX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11832,947,883 - 33,011,845 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1832,917,858 - 33,011,819 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1832,553,818 - 32,617,646 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01833,558,412 - 33,622,940 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1833,555,858 - 33,622,903 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11833,118,411 - 33,182,904 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01832,703,851 - 32,774,181 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01833,345,081 - 33,409,593 (-)NCBIUU_Cfam_GSD_1.0
Pdhx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494730,028,955 - 30,091,172 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365333,154,314 - 3,215,819 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365333,153,461 - 3,215,891 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDHX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl226,014,970 - 26,103,402 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1226,014,954 - 26,094,895 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2228,381,683 - 28,461,798 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDHX
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1130,270,567 - 30,344,929 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl130,269,957 - 30,344,494 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038127,384,875 - 127,458,466 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdhx
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476712,178,505 - 12,257,457 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDHX
308 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003477.3(PDHX):c.44G>A (p.Arg15His) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000023731]|not provided [RCV000198591]|not specified [RCV003330399] Chr11:34916699 [GRCh38]
Chr11:34938246 [GRCh37]
Chr11:11p13
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003477.2(PDHX):c.78_162del deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002192] Chr11:34916733..34931405 [GRCh38]
Chr11:34938280..34952952 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs) deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002193] Chr11:34978124..34978182 [GRCh38]
Chr11:34999671..34999729 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.88_91del (p.Lys30fs) deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002194] Chr11:34916742..34916745 [GRCh38]
Chr11:34938289..34938292 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.641+1G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002195] Chr11:34960519 [GRCh38]
Chr11:34982066 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.1024-1G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002196] Chr11:34984569 [GRCh38]
Chr11:35006116 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.620del (p.Pro207fs) deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002197] Chr11:34960495 [GRCh38]
Chr11:34982042 [GRCh37]
Chr11:11p13
pathogenic
NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519] deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002198] Chr11:11p13 pathogenic
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002199] Chr11:34966740 [GRCh38]
Chr11:34988287 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.1183-3088_1247+760del deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV000002200] Chr11:34989224..34993136 [GRCh38]
Chr11:35010771..35014683 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.1239A>T (p.Gly413=) single nucleotide variant not provided [RCV000520073] Chr11:34992371 [GRCh38]
Chr11:35013918 [GRCh37]
Chr11:11p13
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3 copy number gain See cases [RCV000053617] Chr11:34161694..36799127 [GRCh38]
Chr11:34183241..36820677 [GRCh37]
Chr11:34139817..36777253 [NCBI36]
Chr11:11p13-12
pathogenic
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000281607]|not provided [RCV000676188]|not specified [RCV000127408] Chr11:34916725 [GRCh38]
Chr11:34938272 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.160+15C>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV002477337]|not provided [RCV001509934]|not specified [RCV000127409] Chr11:34916830 [GRCh38]
Chr11:34938377 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.241+3G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000304012]|not provided [RCV000676190]|not specified [RCV000127410] Chr11:34931487 [GRCh38]
Chr11:34953034 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.339C>T (p.Ile113=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000307758]|not provided [RCV000676193]|not specified [RCV000127411] Chr11:34947603 [GRCh38]
Chr11:34969150 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.438C>T (p.Asp146=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000364720]|not provided [RCV000676194]|not specified [RCV000127412] Chr11:34957479 [GRCh38]
Chr11:34979026 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.507C>T (p.Ile169=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000330463]|not provided [RCV000676195]|not specified [RCV000127413] Chr11:34957548 [GRCh38]
Chr11:34979095 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.531C>T (p.Pro177=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000276511]|not provided [RCV000676196]|not specified [RCV000127414] Chr11:34957572 [GRCh38]
Chr11:34979119 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.566G>A (p.Arg189His) single nucleotide variant not provided [RCV000422923]|not specified [RCV000127415] Chr11:34960443 [GRCh38]
Chr11:34981990 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.798T>C (p.Pro266=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000408410]|not provided [RCV000676198]|not specified [RCV000127416] Chr11:34966796 [GRCh38]
Chr11:34988343 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.957G>A (p.Leu319=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001001914]|not provided [RCV000967794]|not specified [RCV000127417] Chr11:34970279 [GRCh38]
Chr11:34991826 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000988526]|Pyruvate dehydrogenase E3-binding protein deficiency [RCV001000245]|not provided [RCV000224806]|not specified [RCV000127418] Chr11:34978135 [GRCh38]
Chr11:34999682 [GRCh37]
Chr11:11p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001108392]|not provided [RCV000967681]|not specified [RCV000127419] Chr11:34992320 [GRCh38]
Chr11:35013867 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000366782]|not provided [RCV000970671]|not specified [RCV000127420] Chr11:34994997 [GRCh38]
Chr11:35016544 [GRCh37]
Chr11:11p13
benign|uncertain significance
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000149582]|not provided [RCV001091950] Chr11:34995002 [GRCh38]
Chr11:35016549 [GRCh37]
Chr11:11p13
pathogenic|likely pathogenic|not provided
NM_003477.2:c.-180delC deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV001332269] Chr11:34916476 [GRCh38]
Chr11:34938023 [GRCh37]
Chr11:11p13
pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_003477.3(PDHX):c.1024-9T>G single nucleotide variant not provided [RCV001493945] Chr11:34984561 [GRCh38]
Chr11:35006108 [GRCh37]
Chr11:11p13
likely benign
GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1 copy number loss See cases [RCV000135295] Chr11:26368962..35252976 [GRCh38]
Chr11:26390509..35274523 [GRCh37]
Chr11:26347085..35231099 [NCBI36]
Chr11:11p14.2-13
pathogenic
GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3 copy number gain See cases [RCV000142987] Chr11:34168931..36820798 [GRCh38]
Chr11:34190478..36842348 [GRCh37]
Chr11:34147054..36798924 [NCBI36]
Chr11:11p13-12
uncertain significance
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000406992]|not provided [RCV000676187]|not specified [RCV000342110] Chr11:34916722 [GRCh38]
Chr11:34938269 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly) single nucleotide variant Inborn genetic diseases [RCV002519109]|Pyruvate dehydrogenase E3-binding protein deficiency [RCV000405597]|not provided [RCV000398695] Chr11:34947581 [GRCh38]
Chr11:34969128 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000680150]|not provided [RCV000676200] Chr11:34984675 [GRCh38]
Chr11:35006222 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000763736]|not provided [RCV000200463]|not specified [RCV003387799] Chr11:34960466 [GRCh38]
Chr11:34982013 [GRCh37]
Chr11:11p13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003477.3(PDHX):c.623G>A (p.Arg208Gln) single nucleotide variant not provided [RCV000196868] Chr11:34960500 [GRCh38]
Chr11:34982047 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.579A>G (p.Glu193=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001105022]|not provided [RCV000973143]|not specified [RCV000200783] Chr11:34960456 [GRCh38]
Chr11:34982003 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) single nucleotide variant Inborn genetic diseases [RCV002515423]|Pyruvate dehydrogenase E3-binding protein deficiency [RCV001420534]|not provided [RCV000197092] Chr11:34984598 [GRCh38]
Chr11:35006145 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000390708]|not provided [RCV000676201] Chr11:34994999 [GRCh38]
Chr11:35016546 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.1256A>G (p.Asn419Ser) single nucleotide variant not provided [RCV000197652] Chr11:34994922 [GRCh38]
Chr11:35016469 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.160G>A (p.Gly54Ser) single nucleotide variant not specified [RCV000198199] Chr11:34916815 [GRCh38]
Chr11:34938362 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1023+18A>G single nucleotide variant not provided [RCV001512965]|not specified [RCV000198312] Chr11:34978200 [GRCh38]
Chr11:34999747 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003333963]|not provided [RCV000198953] Chr11:34984607 [GRCh38]
Chr11:35006154 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000340991]|not provided [RCV000195913] Chr11:34966747 [GRCh38]
Chr11:34988294 [GRCh37]
Chr11:11p13
conflicting interpretations of pathogenicity|uncertain significance
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln) single nucleotide variant Inborn genetic diseases [RCV002515422]|Pyruvate dehydrogenase E3-binding protein deficiency [RCV001105023]|not provided [RCV000884220] Chr11:34960517 [GRCh38]
Chr11:34982064 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.644A>G (p.Asp215Gly) single nucleotide variant not provided [RCV003091281] Chr11:34966642 [GRCh38]
Chr11:34988189 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter) single nucleotide variant not provided [RCV003069742] Chr11:34992363 [GRCh38]
Chr11:35013910 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.-23C>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000293664]|not specified [RCV000196329] Chr11:34916633 [GRCh38]
Chr11:34938180 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.674C>T (p.Thr225Met) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106179]|not provided [RCV000487875] Chr11:34966672 [GRCh38]
Chr11:34988219 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.479G>A (p.Arg160His) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000579179]|not provided [RCV001860019] Chr11:34957520 [GRCh38]
Chr11:34979067 [GRCh37]
Chr11:11p13
uncertain significance|not provided
NM_003477.3(PDHX):c.63C>T (p.Pro21=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000335880]|not provided [RCV000676186]|not specified [RCV000376293] Chr11:34916718 [GRCh38]
Chr11:34938265 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.108T>C (p.Ser36=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000338943]|not provided [RCV000676189]|not specified [RCV000297676] Chr11:34916763 [GRCh38]
Chr11:34938310 [GRCh37]
Chr11:11p13
benign
GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1 copy number loss See cases [RCV000240268] Chr11:30615127..40606139 [GRCh37]
Chr11:11p14.1-12
pathogenic
NM_003477.2(PDHX):c.-271G>T single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV000302285] Chr11:34916385 [GRCh38]
Chr11:34937932 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.858T>C (p.Val286=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000344720]|not provided [RCV000676199]|not specified [RCV001529030] Chr11:34970180 [GRCh38]
Chr11:34991727 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.511G>A (p.Val171Ile) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000368684]|not provided [RCV002522196] Chr11:34957552 [GRCh38]
Chr11:34979099 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*200T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000368861]|not provided [RCV001683230] Chr11:34995372 [GRCh38]
Chr11:35016919 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.702T>C (p.Thr234=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000283691] Chr11:34966700 [GRCh38]
Chr11:34988247 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*114A>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000370344] Chr11:34995286 [GRCh38]
Chr11:35016833 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.2(PDHX):c.-202A>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000266950]|not provided [RCV001675788] Chr11:34916454 [GRCh38]
Chr11:34938001 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.542+10T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000372013]|not provided [RCV000926536]|not specified [RCV000611737] Chr11:34957593 [GRCh38]
Chr11:34979140 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.*644C>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000270716] Chr11:34995816 [GRCh38]
Chr11:35017363 [GRCh37]
Chr11:11p13
benign
NM_003477.2(PDHX):c.-129C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000270554]|not provided [RCV001711781] Chr11:34916527 [GRCh38]
Chr11:34938074 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.57+77C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000348341]|not provided [RCV000830756] Chr11:34916151 [GRCh38]
Chr11:34937698 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.57+78A>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000290955]|not provided [RCV001712012] Chr11:34916150 [GRCh38]
Chr11:34937697 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.*331G>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000329223] Chr11:34995503 [GRCh38]
Chr11:35017050 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*259G>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000274261] Chr11:34995431 [GRCh38]
Chr11:35016978 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.474G>A (p.Glu158=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000273005]|not provided [RCV000969377] Chr11:34957515 [GRCh38]
Chr11:34979062 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000333759]|not provided [RCV000959058] Chr11:34957573 [GRCh38]
Chr11:34979120 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.*486G>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000383839] Chr11:34995658 [GRCh38]
Chr11:35017205 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.-1C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000313390] Chr11:34916285 [GRCh38]
Chr11:34937832 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.2(PDHX):c.-208C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000359422] Chr11:34916448 [GRCh38]
Chr11:34937995 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.2(PDHX):c.-88C>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000385759]|not provided [RCV001612960] Chr11:34916568 [GRCh38]
Chr11:34938115 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.161-6T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000406999]|not provided [RCV000922039] Chr11:34931398 [GRCh38]
Chr11:34952945 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.-4C>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000389336]|not provided [RCV000676185]|not specified [RCV000284713] Chr11:34916652 [GRCh38]
Chr11:34938199 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000361091]|not provided [RCV000676191]|not specified [RCV001529101] Chr11:34947565 [GRCh38]
Chr11:34969112 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000279881] Chr11:34960454 [GRCh38]
Chr11:34982001 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*123A>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000277893]|not provided [RCV001711906] Chr11:34995295 [GRCh38]
Chr11:35016842 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.*890T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000340754] Chr11:34996062 [GRCh38]
Chr11:35017609 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000278575]|not provided [RCV000907114] Chr11:34916702 [GRCh38]
Chr11:34938249 [GRCh37]
Chr11:11p13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003477.2(PDHX):c.-272G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000263590]|not provided [RCV001672447] Chr11:34916384 [GRCh38]
Chr11:34937931 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.-53C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000298899]|not provided [RCV001642943] Chr11:34916337 [GRCh38]
Chr11:34937884 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.19C>T (p.Arg7Trp) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000393521]|not provided [RCV001711905] Chr11:34916266 [GRCh38]
Chr11:34937813 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.160+9C>T single nucleotide variant not provided [RCV000337168] Chr11:34916824 [GRCh38]
Chr11:34938371 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.2(PDHX):c.-124G>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000328825]|not provided [RCV000830837] Chr11:34916532 [GRCh38]
Chr11:34938079 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.641+4T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000375898]|not provided [RCV000676197] Chr11:34960522 [GRCh38]
Chr11:34982069 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.-18G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000404120] Chr11:34916302 [GRCh38]
Chr11:34937849 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.-7C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000332206] Chr11:34916649 [GRCh38]
Chr11:34938196 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.-70T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000356024]|not provided [RCV000767328] Chr11:34916354 [GRCh38]
Chr11:34937901 [GRCh37]
Chr11:11p13
benign|not provided
NM_003477.3(PDHX):c.*743G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000380152] Chr11:34995915 [GRCh38]
Chr11:35017462 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*27A>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000313313]|not provided [RCV001559749] Chr11:34995199 [GRCh38]
Chr11:35016746 [GRCh37]
Chr11:11p13
benign|likely benign|uncertain significance
NM_003477.3(PDHX):c.*173G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000314209]|not provided [RCV001642944] Chr11:34995345 [GRCh38]
Chr11:35016892 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.2(PDHX):c.-129_-127delCGG deletion Pyruvate dehydrogenase complex deficiency [RCV000362815]|not provided [RCV000833767] Chr11:34916525..34916527 [GRCh38]
Chr11:34938072..34938074 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.767C>T (p.Pro256Leu) single nucleotide variant not provided [RCV002285964] Chr11:34966765 [GRCh38]
Chr11:34988312 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.709C>A (p.Pro237Thr) single nucleotide variant Inborn genetic diseases [RCV002528240]|not provided [RCV000523230] Chr11:34966707 [GRCh38]
Chr11:34988254 [GRCh37]
Chr11:11p13
uncertain significance
NC_000011.9:g.(34938363_34952950)_(34953032_34969052)dup duplication not specified [RCV002281850] Chr11:34952950..34953032 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1324G>T (p.Val442Phe) single nucleotide variant not provided [RCV000488258] Chr11:34994990 [GRCh38]
Chr11:35016537 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.585C>G (p.His195Gln) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000318607] Chr11:34960462 [GRCh38]
Chr11:34982009 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.-14C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000351901] Chr11:34916298 [GRCh38]
Chr11:34937845 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*763G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000285733] Chr11:34995935 [GRCh38]
Chr11:35017482 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000287345] Chr11:34970163 [GRCh38]
Chr11:34991710 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.2(PDHX):c.-155G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000324363] Chr11:34916501 [GRCh38]
Chr11:34938048 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*650G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000325728] Chr11:34995822 [GRCh38]
Chr11:35017369 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.462A>G (p.Ser154=) single nucleotide variant not provided [RCV001719018] Chr11:34957503 [GRCh38]
Chr11:34979050 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.793dup (p.Thr265fs) duplication Pyruvate dehydrogenase E3-binding protein deficiency [RCV001782890]|not provided [RCV000413565] Chr11:34966789..34966790 [GRCh38]
Chr11:34988336..34988337 [GRCh37]
Chr11:11p13
pathogenic|likely pathogenic
GRCh37/hg19 11p13(chr11:31210842-35436121)x1 copy number loss See cases [RCV000446864] Chr11:31210842..35436121 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.160+12G>C single nucleotide variant not provided [RCV002061654]|not specified [RCV000417644] Chr11:34916827 [GRCh38]
Chr11:34938374 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.526A>G (p.Ile176Val) single nucleotide variant not provided [RCV002521531]|not specified [RCV000429025] Chr11:34957567 [GRCh38]
Chr11:34979114 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.642-19A>G single nucleotide variant not provided [RCV001521410]|not specified [RCV000443142] Chr11:34966621 [GRCh38]
Chr11:34988168 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.1503C>T (p.Ala501=) single nucleotide variant not provided [RCV001518039]|not specified [RCV000422796] Chr11:34995169 [GRCh38]
Chr11:35016716 [GRCh37]
Chr11:11p13
benign
GRCh37/hg19 11p14.1-11.2(chr11:29238811-45494063)x1 copy number loss See cases [RCV000445800] Chr11:29238811..45494063 [GRCh37]
Chr11:11p14.1-11.2
pathogenic
NM_003477.3(PDHX):c.618C>G (p.Gly206=) single nucleotide variant not provided [RCV000968154]|not specified [RCV000440580] Chr11:34960495 [GRCh38]
Chr11:34982042 [GRCh37]
Chr11:11p13
benign|likely benign
GRCh37/hg19 11p13-12(chr11:34189942-36857171)x3 copy number gain See cases [RCV000448252] Chr11:34189942..36857171 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p13-12(chr11:32782607-36404823)x3 copy number gain See cases [RCV000448055] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12
uncertain significance
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12
pathogenic
NM_003477.3(PDHX):c.161-10dup duplication not provided [RCV002525911]|not specified [RCV000484650] Chr11:34931387..34931388 [GRCh38]
Chr11:34952934..34952935 [GRCh37]
Chr11:11p13
benign|likely benign
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000762841]|not provided [RCV000486323] Chr11:34916789 [GRCh38]
Chr11:34938336 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.711dup (p.Thr238fs) duplication Pyruvate dehydrogenase E3-binding protein deficiency [RCV001782961]|not provided [RCV000479613] Chr11:34966704..34966705 [GRCh38]
Chr11:34988251..34988252 [GRCh37]
Chr11:11p13
pathogenic
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1 copy number loss See cases [RCV000512014] Chr11:25771208..35614978 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1 copy number loss See cases [RCV000511434] Chr11:27588560..41770792 [GRCh37]
Chr11:11p14.1-12
pathogenic|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_003477.3(PDHX):c.769C>A (p.Arg257=) single nucleotide variant not specified [RCV000606952] Chr11:34966767 [GRCh38]
Chr11:34988314 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1351C>A (p.Leu451Ile) single nucleotide variant Inborn genetic diseases [RCV003256722] Chr11:34995017 [GRCh38]
Chr11:35016564 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.828T>G (p.Thr276=) single nucleotide variant not specified [RCV000609522] Chr11:34970150 [GRCh38]
Chr11:34991697 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.241+15T>A single nucleotide variant not provided [RCV002065377]|not specified [RCV000610112] Chr11:34931499 [GRCh38]
Chr11:34953046 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.789A>G (p.Val263=) single nucleotide variant not provided [RCV000935123]|not specified [RCV000607936] Chr11:34966787 [GRCh38]
Chr11:34988334 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.-27C>G single nucleotide variant not specified [RCV000611489] Chr11:34916629 [GRCh38]
Chr11:34938176 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.675G>A (p.Thr225=) single nucleotide variant not specified [RCV000614731] Chr11:34966673 [GRCh38]
Chr11:34988220 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1248-15T>C single nucleotide variant not specified [RCV000609395] Chr11:34994899 [GRCh38]
Chr11:35016446 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.319G>A (p.Asp107Asn) single nucleotide variant not provided [RCV000676192] Chr11:34947583 [GRCh38]
Chr11:34969130 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.2(PDHX):c.-197delT deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000721986] Chr11:34916459 [GRCh38]
Chr11:34938006 [GRCh37]
Chr11:11p13
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.3-12(chr11:24469451-37524085)x1 copy number loss not provided [RCV000737457] Chr11:24469451..37524085 [GRCh37]
Chr11:11p14.3-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p13(chr11:34937813-34938269)x0 copy number loss not provided [RCV000750012] Chr11:34937813..34938269 [GRCh37]
Chr11:11p13
benign
GRCh37/hg19 11p13(chr11:34975111-35004696)x1 copy number loss not provided [RCV000750013] Chr11:34975111..35004696 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1247+210G>A single nucleotide variant not provided [RCV001583777] Chr11:34992589 [GRCh38]
Chr11:35014136 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.507C>G (p.Ile169Met) single nucleotide variant not provided [RCV003239051] Chr11:34957548 [GRCh38]
Chr11:34979095 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.114C>T (p.Ser38=) single nucleotide variant not provided [RCV000921481] Chr11:34916769 [GRCh38]
Chr11:34938316 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.758C>G (p.Pro253Arg) single nucleotide variant Inborn genetic diseases [RCV002553931]|not provided [RCV001063032] Chr11:34966756 [GRCh38]
Chr11:34988303 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1286C>G (p.Thr429Ser) single nucleotide variant not provided [RCV001049608] Chr11:34994952 [GRCh38]
Chr11:35016499 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV000779059] Chr11:34957444 [GRCh38]
Chr11:34978991 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.741A>G (p.Leu247=) single nucleotide variant not provided [RCV000978480] Chr11:34966739 [GRCh38]
Chr11:34988286 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.211G>T (p.Gly71Ter) single nucleotide variant not provided [RCV000818222] Chr11:34931454 [GRCh38]
Chr11:34953001 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.1024-53C>T single nucleotide variant not provided [RCV000832959] Chr11:34984517 [GRCh38]
Chr11:35006064 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.57+412G>A single nucleotide variant not provided [RCV000843578] Chr11:34915816 [GRCh38]
Chr11:34937363 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.57+359C>T single nucleotide variant not provided [RCV000843581] Chr11:34915869 [GRCh38]
Chr11:34937416 [GRCh37]
Chr11:11p13
benign
NM_015957.4(APIP):c.57+289C>G single nucleotide variant not provided [RCV000843584] Chr11:34915939 [GRCh38]
Chr11:34937486 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.160+189A>G single nucleotide variant not provided [RCV000843585] Chr11:34917004 [GRCh38]
Chr11:34938551 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001332271]|not provided [RCV000791553] Chr11:34960499 [GRCh38]
Chr11:34982046 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1024-215A>T single nucleotide variant not provided [RCV000830776] Chr11:34984355 [GRCh38]
Chr11:35005902 [GRCh37]
Chr11:11p13
benign
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13
pathogenic
NM_003477.3(PDHX):c.565C>T (p.Arg189Cys) single nucleotide variant not provided [RCV000818665] Chr11:34960442 [GRCh38]
Chr11:34981989 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.809A>G (p.Asn270Ser) single nucleotide variant not provided [RCV000994599] Chr11:34966807 [GRCh38]
Chr11:34988354 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13(chr11:34955907-35000983)x1 copy number loss not provided [RCV000846103] Chr11:34955907..35000983 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.160+94A>G single nucleotide variant not provided [RCV000830757] Chr11:34916909 [GRCh38]
Chr11:34938456 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.241+24C>A single nucleotide variant not provided [RCV000830758] Chr11:34931508 [GRCh38]
Chr11:34953055 [GRCh37]
Chr11:11p13
benign
GRCh37/hg19 11p13(chr11:34940981-34962229)x3 copy number gain not provided [RCV000847356] Chr11:34940981..34962229 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.241+173G>A single nucleotide variant not provided [RCV000833036] Chr11:34931657 [GRCh38]
Chr11:34953204 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1182+245A>G single nucleotide variant not provided [RCV000833037] Chr11:34984973 [GRCh38]
Chr11:35006520 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.542+192C>T single nucleotide variant not provided [RCV000843589] Chr11:34957775 [GRCh38]
Chr11:34979322 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.641+168A>G single nucleotide variant not provided [RCV000843592] Chr11:34960686 [GRCh38]
Chr11:34982233 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.965-187G>T single nucleotide variant not provided [RCV000843593] Chr11:34977937 [GRCh38]
Chr11:34999484 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1182+190A>T single nucleotide variant not provided [RCV000843597] Chr11:34984918 [GRCh38]
Chr11:35006465 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.850C>T (p.Arg284Ter) single nucleotide variant not provided [RCV000805839] Chr11:34970172 [GRCh38]
Chr11:34991719 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.411T>C (p.Asp137=) single nucleotide variant not provided [RCV000841365] Chr11:34957452 [GRCh38]
Chr11:34978999 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.884A>C (p.Lys295Thr) single nucleotide variant not provided [RCV001059350] Chr11:34970206 [GRCh38]
Chr11:34991753 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13(chr11:34987136-35039841)x3 copy number gain not provided [RCV000847454] Chr11:34987136..35039841 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13(chr11:34839227-35031978)x3 copy number gain not provided [RCV000849507] Chr11:34839227..35031978 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3 copy number gain not provided [RCV000845975] Chr11:34183318..36860753 [GRCh37]
Chr11:11p13-12
uncertain significance
NM_003477.3(PDHX):c.97C>T (p.Leu33Phe) single nucleotide variant not provided [RCV001052882] Chr11:34916752 [GRCh38]
Chr11:34938299 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.2(PDHX):c.-162C>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001104918] Chr11:34916494 [GRCh38]
Chr11:34938041 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*783G>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001105136] Chr11:34995955 [GRCh38]
Chr11:35017502 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.-30T>C single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001103013] Chr11:34916314 [GRCh38]
Chr11:34937861 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106180] Chr11:34970262 [GRCh38]
Chr11:34991809 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*874A>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106260] Chr11:34996046 [GRCh38]
Chr11:35017593 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.242G>A (p.Gly81Asp) single nucleotide variant not provided [RCV003105009] Chr11:34947506 [GRCh38]
Chr11:34969053 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.57+174T>A single nucleotide variant not provided [RCV001658652] Chr11:34916054 [GRCh38]
Chr11:34937601 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.343-49G>A single nucleotide variant not provided [RCV001572327] Chr11:34957335 [GRCh38]
Chr11:34978882 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.641+33A>G single nucleotide variant not provided [RCV001592106] Chr11:34960551 [GRCh38]
Chr11:34982098 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.342+119dup duplication not provided [RCV001680039] Chr11:34947724..34947725 [GRCh38]
Chr11:34969271..34969272 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1426C>T (p.Arg476Ter) single nucleotide variant not provided [RCV001562663] Chr11:34995092 [GRCh38]
Chr11:35016639 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.642-283_642-281dup duplication not provided [RCV001563344] Chr11:34966355..34966356 [GRCh38]
Chr11:34987902..34987903 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.241+55_241+56dup duplication not provided [RCV001559817] Chr11:34931536..34931537 [GRCh38]
Chr11:34953083..34953084 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.241+57G>T single nucleotide variant not provided [RCV001620979] Chr11:34931541 [GRCh38]
Chr11:34953088 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.*821A>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106259] Chr11:34995993 [GRCh38]
Chr11:35017540 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.970A>G (p.Ile324Val) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003449703]|not provided [RCV001222861] Chr11:34978129 [GRCh38]
Chr11:34999676 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.57+57C>G single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001103012] Chr11:34916171 [GRCh38]
Chr11:34937718 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.838G>A (p.Ala280Thr) single nucleotide variant not provided [RCV001054224] Chr11:34970160 [GRCh38]
Chr11:34991707 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV002479348]|not provided [RCV001057301] Chr11:34984580 [GRCh38]
Chr11:35006127 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*662A>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001105134] Chr11:34995834 [GRCh38]
Chr11:35017381 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*742C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001105135] Chr11:34995914 [GRCh38]
Chr11:35017461 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.242-4G>A single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001108317]|not provided [RCV000913726] Chr11:34947502 [GRCh38]
Chr11:34969049 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.1183-297A>G single nucleotide variant not provided [RCV001565350] Chr11:34992018 [GRCh38]
Chr11:35013565 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1266G>A (p.Met422Ile) single nucleotide variant not provided [RCV001732665] Chr11:34994932 [GRCh38]
Chr11:35016479 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.241+68dup duplication not provided [RCV001608213] Chr11:34931541..34931542 [GRCh38]
Chr11:34953088..34953089 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001108393] Chr11:34995116 [GRCh38]
Chr11:35016663 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.-27C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106081] Chr11:34916629 [GRCh38]
Chr11:34938176 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.*904G>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106261] Chr11:34996076 [GRCh38]
Chr11:35017623 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.402A>G (p.Glu134=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001103109]|not provided [RCV002556060] Chr11:34957443 [GRCh38]
Chr11:34978990 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.1164A>G (p.Glu388=) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001108391] Chr11:34984710 [GRCh38]
Chr11:35006257 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.161-280dup duplication not provided [RCV001585230] Chr11:34931115..34931116 [GRCh38]
Chr11:34952662..34952663 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1248-76A>G single nucleotide variant not provided [RCV001567531] Chr11:34994838 [GRCh38]
Chr11:35016385 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1024-38C>T single nucleotide variant not provided [RCV001533910] Chr11:34984532 [GRCh38]
Chr11:35006079 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.817-43A>G single nucleotide variant not provided [RCV001546140] Chr11:34970096 [GRCh38]
Chr11:34991643 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.343-39G>A single nucleotide variant not provided [RCV001539915] Chr11:34957345 [GRCh38]
Chr11:34978892 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.241+59_241+60insG insertion not provided [RCV001583980] Chr11:34931543..34931544 [GRCh38]
Chr11:34953090..34953091 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001106082] Chr11:34916690 [GRCh38]
Chr11:34938237 [GRCh37]
Chr11:11p13
uncertain significance
NM_015957.4(APIP):c.57+91G>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001108210] Chr11:34916137 [GRCh38]
Chr11:34937684 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001197626] Chr11:34994958 [GRCh38]
Chr11:35016505 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV001196807] Chr11:34992336 [GRCh38]
Chr11:35013883 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.25T>C (p.Cys9Arg) single nucleotide variant not provided [RCV001304472] Chr11:34916680 [GRCh38]
Chr11:34938227 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.542+97A>G single nucleotide variant not provided [RCV001581355] Chr11:34957680 [GRCh38]
Chr11:34979227 [GRCh37]
Chr11:11p13
likely benign
NM_015957.4(APIP):c.-95G>C single nucleotide variant not specified [RCV001797904] Chr11:34916379 [GRCh38]
Chr11:34937926 [GRCh37]
Chr11:11p13
pathogenic|uncertain significance
NM_003477.3(PDHX):c.389T>G (p.Leu130Trp) single nucleotide variant not provided [RCV001295030] Chr11:34957430 [GRCh38]
Chr11:34978977 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1096G>A (p.Ala366Thr) single nucleotide variant Inborn genetic diseases [RCV002547872]|not provided [RCV001367587] Chr11:34984642 [GRCh38]
Chr11:35006189 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1391G>A (p.Arg464His) single nucleotide variant not provided [RCV001327318] Chr11:34995057 [GRCh38]
Chr11:35016604 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.734C>T (p.Ser245Leu) single nucleotide variant not provided [RCV001870717] Chr11:34966732 [GRCh38]
Chr11:34988279 [GRCh37]
Chr11:11p13
conflicting interpretations of pathogenicity|uncertain significance
NM_003477.3(PDHX):c.1040A>T (p.Asn347Ile) single nucleotide variant not provided [RCV001365926] Chr11:34984586 [GRCh38]
Chr11:35006133 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1023+16C>G single nucleotide variant not provided [RCV001515577]|not specified [RCV001530156] Chr11:34978198 [GRCh38]
Chr11:34999745 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle) duplication not provided [RCV001528235] Chr11:34947562..34947563 [GRCh38]
Chr11:34969109..34969110 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.343-7A>C single nucleotide variant not provided [RCV001427908] Chr11:34957377 [GRCh38]
Chr11:34978924 [GRCh37]
Chr11:11p13
likely benign|conflicting interpretations of pathogenicity
NM_003477.3(PDHX):c.1278C>T (p.Asp426=) single nucleotide variant not provided [RCV001444043] Chr11:34994944 [GRCh38]
Chr11:35016491 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.816+1G>A single nucleotide variant not provided [RCV001378315] Chr11:34966815 [GRCh38]
Chr11:34988362 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.241+8G>A single nucleotide variant not provided [RCV001445611] Chr11:34931492 [GRCh38]
Chr11:34953039 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.543-6T>C single nucleotide variant not provided [RCV001461502] Chr11:34960414 [GRCh38]
Chr11:34981961 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.641+76G>A single nucleotide variant not provided [RCV001617357] Chr11:34960594 [GRCh38]
Chr11:34982141 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.542+157del deletion not provided [RCV001710974] Chr11:34957730 [GRCh38]
Chr11:34979277 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.343-15_343-13del microsatellite not provided [RCV001666886] Chr11:34957366..34957368 [GRCh38]
Chr11:34978913..34978915 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.241+56dup duplication not provided [RCV001716127] Chr11:34931536..34931537 [GRCh38]
Chr11:34953083..34953084 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.641+83C>A single nucleotide variant not provided [RCV001649926] Chr11:34960601 [GRCh38]
Chr11:34982148 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.641+81T>G single nucleotide variant not provided [RCV001716830] Chr11:34960599 [GRCh38]
Chr11:34982146 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1023+132G>A single nucleotide variant not provided [RCV001716840] Chr11:34978314 [GRCh38]
Chr11:34999861 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1218G>A (p.Leu406=) single nucleotide variant not provided [RCV001457486] Chr11:34992350 [GRCh38]
Chr11:35013897 [GRCh37]
Chr11:11p13
likely benign
NM_003477.2(PDHX):c.-178T>C single nucleotide variant not specified [RCV001733600] Chr11:34916478 [GRCh38]
Chr11:34938025 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.248C>T (p.Ala83Val) single nucleotide variant not provided [RCV001806684]|not specified [RCV001844414] Chr11:34947512 [GRCh38]
Chr11:34969059 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.28G>T (p.Asp10Tyr) single nucleotide variant not specified [RCV001806785] Chr11:34916683 [GRCh38]
Chr11:34938230 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.22G>T (p.Gly8Cys) single nucleotide variant Inborn genetic diseases [RCV003355589]|not provided [RCV001874513] Chr11:34916677 [GRCh38]
Chr11:34938224 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.548G>A (p.Arg183His) single nucleotide variant not provided [RCV001892833] Chr11:34960425 [GRCh38]
Chr11:34981972 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.583C>T (p.His195Tyr) single nucleotide variant not provided [RCV001964638] Chr11:34960460 [GRCh38]
Chr11:34982007 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13-12(chr11:34189942-36857171) copy number gain not specified [RCV002052922] Chr11:34189942..36857171 [GRCh37]
Chr11:11p13-12
uncertain significance
NM_003477.3(PDHX):c.1441G>A (p.Glu481Lys) single nucleotide variant not provided [RCV002005003] Chr11:34995107 [GRCh38]
Chr11:35016654 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.374G>T (p.Gly125Val) single nucleotide variant not provided [RCV002003069] Chr11:34957415 [GRCh38]
Chr11:34978962 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.886A>G (p.Ser296Gly) single nucleotide variant not provided [RCV001985638] Chr11:34970208 [GRCh38]
Chr11:34991755 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.151T>A (p.Trp51Arg) single nucleotide variant not provided [RCV002039914] Chr11:34916806 [GRCh38]
Chr11:34938353 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13-12(chr11:32782607-36404823) copy number gain not specified [RCV002052921] Chr11:32782607..36404823 [GRCh37]
Chr11:11p13-12
uncertain significance
NM_003477.3(PDHX):c.707C>A (p.Ala236Asp) single nucleotide variant Inborn genetic diseases [RCV002543349]|not provided [RCV001847416] Chr11:34966705 [GRCh38]
Chr11:34988252 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.766C>T (p.Pro256Ser) single nucleotide variant not provided [RCV002038858] Chr11:34966764 [GRCh38]
Chr11:34988311 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1300C>G (p.Pro434Ala) single nucleotide variant not provided [RCV001995268] Chr11:34994966 [GRCh38]
Chr11:35016513 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.742C>G (p.Gln248Glu) single nucleotide variant not provided [RCV001903613] Chr11:34966740 [GRCh38]
Chr11:34988287 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.794C>G (p.Thr265Ser) single nucleotide variant not provided [RCV001982044] Chr11:34966792 [GRCh38]
Chr11:34988339 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.368G>A (p.Arg123Gln) single nucleotide variant not provided [RCV002016692] Chr11:34957409 [GRCh38]
Chr11:34978956 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1285A>G (p.Thr429Ala) single nucleotide variant not provided [RCV002035814] Chr11:34994951 [GRCh38]
Chr11:35016498 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.157C>T (p.Arg53Trp) single nucleotide variant not provided [RCV001898797] Chr11:34916812 [GRCh38]
Chr11:34938359 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1323G>A (p.Ala441=) single nucleotide variant not provided [RCV001901925] Chr11:34994989 [GRCh38]
Chr11:35016536 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.851G>A (p.Arg284Gln) single nucleotide variant not provided [RCV001870405] Chr11:34970173 [GRCh38]
Chr11:34991720 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.997A>G (p.Ile333Val) single nucleotide variant not provided [RCV001931113] Chr11:34978156 [GRCh38]
Chr11:34999703 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003130650]|not provided [RCV001976693] Chr11:34957583 [GRCh38]
Chr11:34979130 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1007C>G (p.Ala336Gly) single nucleotide variant not provided [RCV001951765] Chr11:34978166 [GRCh38]
Chr11:34999713 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.837C>T (p.Pro279=) single nucleotide variant not provided [RCV001922492] Chr11:34970159 [GRCh38]
Chr11:34991706 [GRCh37]
Chr11:11p13
likely benign
NC_000011.9:g.(?_34969033)_(34969173_?)dup duplication not provided [RCV002017699] Chr11:34969033..34969173 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.27T>G (p.Cys9Trp) single nucleotide variant not provided [RCV002050932] Chr11:34916682 [GRCh38]
Chr11:34938229 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.32C>A (p.Pro11Gln) single nucleotide variant not provided [RCV001932673] Chr11:34916687 [GRCh38]
Chr11:34938234 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.688G>A (p.Glu230Lys) single nucleotide variant not provided [RCV001936274] Chr11:34966686 [GRCh38]
Chr11:34988233 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1495C>T (p.Arg499Ter) single nucleotide variant not provided [RCV001900327] Chr11:34995161 [GRCh38]
Chr11:35016708 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV001907134] Chr11:34916692 [GRCh38]
Chr11:34938239 [GRCh37]
Chr11:11p13
likely benign
NC_000011.9:g.(?_34969033)_(34969173_?)del deletion not provided [RCV001958804] Chr11:34969033..34969173 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.1288G>A (p.Ala430Thr) single nucleotide variant not provided [RCV001884950] Chr11:34994954 [GRCh38]
Chr11:35016501 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1126C>T (p.Pro376Ser) single nucleotide variant not provided [RCV001878068] Chr11:34984672 [GRCh38]
Chr11:35006219 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1057G>C (p.Glu353Gln) single nucleotide variant not provided [RCV001955565] Chr11:34984603 [GRCh38]
Chr11:35006150 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.434A>C (p.Lys145Thr) single nucleotide variant not provided [RCV002030100] Chr11:34957475 [GRCh38]
Chr11:34979022 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1182+16G>C single nucleotide variant not provided [RCV002106457] Chr11:34984744 [GRCh38]
Chr11:35006291 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1258T>C (p.Leu420=) single nucleotide variant not provided [RCV002197567] Chr11:34994924 [GRCh38]
Chr11:35016471 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.285T>C (p.Thr95=) single nucleotide variant not provided [RCV002078988] Chr11:34947549 [GRCh38]
Chr11:34969096 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.161-10del deletion not provided [RCV002134320] Chr11:34931388 [GRCh38]
Chr11:34952935 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV002206769] Chr11:34995162 [GRCh38]
Chr11:35016709 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.225A>G (p.Lys75=) single nucleotide variant not provided [RCV002199381] Chr11:34931468 [GRCh38]
Chr11:34953015 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1182+13A>G single nucleotide variant not provided [RCV002201446] Chr11:34984741 [GRCh38]
Chr11:35006288 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.817-4G>T single nucleotide variant not provided [RCV002084180] Chr11:34970135 [GRCh38]
Chr11:34991682 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.160+11G>A single nucleotide variant not provided [RCV002198411] Chr11:34916826 [GRCh38]
Chr11:34938373 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.160+15C>T single nucleotide variant not provided [RCV002082468] Chr11:34916830 [GRCh38]
Chr11:34938377 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.242-17C>T single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV002494317]|not provided [RCV002155165] Chr11:34947489 [GRCh38]
Chr11:34969036 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.82C>T (p.Leu28=) single nucleotide variant not provided [RCV002142060] Chr11:34916737 [GRCh38]
Chr11:34938284 [GRCh37]
Chr11:11p13
likely benign
NC_000011.9:g.(?_34978911)_(34979150_?)del deletion not provided [RCV003113266] Chr11:34978911..34979150 [GRCh37]
Chr11:11p13
pathogenic
NC_000011.9:g.(?_34952931)_(34953051_?)dup duplication not provided [RCV003113267] Chr11:34952931..34953051 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.474G>T (p.Glu158Asp) single nucleotide variant not specified [RCV002271924] Chr11:34957515 [GRCh38]
Chr11:34979062 [GRCh37]
Chr11:11p13
uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_003477.3(PDHX):c.1012dup (p.Val338fs) duplication Pyruvate dehydrogenase E3-binding protein deficiency [RCV003148160] Chr11:34978170..34978171 [GRCh38]
Chr11:34999717..34999718 [GRCh37]
Chr11:11p13
likely pathogenic
GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1 copy number loss not provided [RCV002472502] Chr11:31372721..38259316 [GRCh37]
Chr11:11p13-12
pathogenic
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV002302498] Chr11:34969052..34999730 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.1261G>T (p.Gly421Trp) single nucleotide variant not provided [RCV002303369] Chr11:34994927 [GRCh38]
Chr11:35016474 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs) indel not specified [RCV002308563] Chr11:34966796..34966798 [GRCh38]
Chr11:34988343..34988345 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.921_922del (p.Cys307_Asp308delinsTer) microsatellite not provided [RCV002862400] Chr11:34970241..34970242 [GRCh38]
Chr11:34991788..34991789 [GRCh37]
Chr11:11p13
pathogenic
NM_003477.3(PDHX):c.498G>T (p.Gln166His) single nucleotide variant Inborn genetic diseases [RCV002687400] Chr11:34957539 [GRCh38]
Chr11:34979086 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.769C>T (p.Arg257Trp) single nucleotide variant Inborn genetic diseases [RCV002688033] Chr11:34966767 [GRCh38]
Chr11:34988314 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.191T>G (p.Leu64Arg) single nucleotide variant not provided [RCV002614019] Chr11:34931434 [GRCh38]
Chr11:34952981 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1182+8T>G single nucleotide variant not provided [RCV002909105] Chr11:34984736 [GRCh38]
Chr11:35006283 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.520G>A (p.Glu174Lys) single nucleotide variant Inborn genetic diseases [RCV002748766] Chr11:34957561 [GRCh38]
Chr11:34979108 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.366A>G (p.Ile122Met) single nucleotide variant not provided [RCV002794961] Chr11:34957407 [GRCh38]
Chr11:34978954 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.518A>G (p.Lys173Arg) single nucleotide variant not provided [RCV002972336] Chr11:34957559 [GRCh38]
Chr11:34979106 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.701C>T (p.Thr234Ile) single nucleotide variant not provided [RCV003074899] Chr11:34966699 [GRCh38]
Chr11:34988246 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1046G>A (p.Ser349Asn) single nucleotide variant not provided [RCV002815448] Chr11:34984592 [GRCh38]
Chr11:35006139 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1093G>A (p.Val365Met) single nucleotide variant not provided [RCV002775494] Chr11:34984639 [GRCh38]
Chr11:35006186 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.917A>G (p.Asp306Gly) single nucleotide variant Inborn genetic diseases [RCV002836678] Chr11:34970239 [GRCh38]
Chr11:34991786 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.80G>A (p.Gly27Glu) single nucleotide variant not provided [RCV002995178] Chr11:34916735 [GRCh38]
Chr11:34938282 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.854G>A (p.Arg285Lys) single nucleotide variant Inborn genetic diseases [RCV002840841] Chr11:34970176 [GRCh38]
Chr11:34991723 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1032A>G (p.Pro344=) single nucleotide variant not provided [RCV002947652] Chr11:34984578 [GRCh38]
Chr11:35006125 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1233A>G (p.Gln411=) single nucleotide variant not provided [RCV002953012] Chr11:34992365 [GRCh38]
Chr11:35013912 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1276G>A (p.Asp426Asn) single nucleotide variant not provided [RCV002889457] Chr11:34994942 [GRCh38]
Chr11:35016489 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1436A>G (p.Asp479Gly) single nucleotide variant not provided [RCV003019025] Chr11:34995102 [GRCh38]
Chr11:35016649 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.951A>G (p.Gln317=) single nucleotide variant not provided [RCV002866718] Chr11:34970273 [GRCh38]
Chr11:34991820 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.202A>G (p.Met68Val) single nucleotide variant Inborn genetic diseases [RCV002692316] Chr11:34931445 [GRCh38]
Chr11:34952992 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1305dup (p.Gln436fs) duplication Inborn genetic diseases [RCV002692586] Chr11:34994970..34994971 [GRCh38]
Chr11:35016517..35016518 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.543-19C>T single nucleotide variant not provided [RCV002913037] Chr11:34960401 [GRCh38]
Chr11:34981948 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.1024-7T>C single nucleotide variant not provided [RCV003053234] Chr11:34984563 [GRCh38]
Chr11:35006110 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV003038123] Chr11:34916660 [GRCh38]
Chr11:34938207 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.974A>C (p.Lys325Thr) single nucleotide variant Inborn genetic diseases [RCV002661556] Chr11:34978133 [GRCh38]
Chr11:34999680 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1075C>T (p.Pro359Ser) single nucleotide variant not provided [RCV002795444] Chr11:34984621 [GRCh38]
Chr11:35006168 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.155T>G (p.Leu52Arg) single nucleotide variant Inborn genetic diseases [RCV002888279] Chr11:34916810 [GRCh38]
Chr11:34938357 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1455G>A (p.Arg485=) single nucleotide variant not provided [RCV002592114] Chr11:34995121 [GRCh38]
Chr11:35016668 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.320A>T (p.Asp107Val) single nucleotide variant not provided [RCV003085884] Chr11:34947584 [GRCh38]
Chr11:34969131 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.323G>A (p.Gly108Glu) single nucleotide variant not provided [RCV003043244] Chr11:34947587 [GRCh38]
Chr11:34969134 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.794C>T (p.Thr265Ile) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV002509005] Chr11:34966792 [GRCh38]
Chr11:34988339 [GRCh37]
Chr11:11p13
not provided
NM_003477.3(PDHX):c.173A>C (p.Lys58Thr) single nucleotide variant not provided [RCV002805626] Chr11:34931416 [GRCh38]
Chr11:34952963 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.691T>A (p.Ser231Thr) single nucleotide variant not provided [RCV002765808] Chr11:34966689 [GRCh38]
Chr11:34988236 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1182+21_1182+22del microsatellite not provided [RCV002929179] Chr11:34984746..34984747 [GRCh38]
Chr11:35006293..35006294 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.776T>A (p.Val259Glu) single nucleotide variant not provided [RCV002741523] Chr11:34966774 [GRCh38]
Chr11:34988321 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1077A>G (p.Pro359=) single nucleotide variant not provided [RCV002666808] Chr11:34984623 [GRCh38]
Chr11:35006170 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.367C>T (p.Arg123Trp) single nucleotide variant not provided [RCV002766054] Chr11:34957408 [GRCh38]
Chr11:34978955 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.501T>A (p.Ile167=) single nucleotide variant not provided [RCV003083644] Chr11:34957542 [GRCh38]
Chr11:34979089 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.919T>C (p.Cys307Arg) single nucleotide variant not provided [RCV002982671] Chr11:34970241 [GRCh38]
Chr11:34991788 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.682A>T (p.Ile228Phe) single nucleotide variant Inborn genetic diseases [RCV002787830] Chr11:34966680 [GRCh38]
Chr11:34988227 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1351C>G (p.Leu451Val) single nucleotide variant not provided [RCV002712017] Chr11:34995017 [GRCh38]
Chr11:35016564 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.310G>A (p.Ala104Thr) single nucleotide variant Inborn genetic diseases [RCV002803593] Chr11:34947574 [GRCh38]
Chr11:34969121 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.933T>C (p.Ala311=) single nucleotide variant not provided [RCV003083742] Chr11:34970255 [GRCh38]
Chr11:34991802 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.817-3C>T single nucleotide variant Inborn genetic diseases [RCV002835398] Chr11:34970136 [GRCh38]
Chr11:34991683 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.250G>A (p.Val84Met) single nucleotide variant Inborn genetic diseases [RCV002989627]|not provided [RCV003227093]|not specified [RCV003324085] Chr11:34947514 [GRCh38]
Chr11:34969061 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.786A>G (p.Pro262=) single nucleotide variant not provided [RCV002629342] Chr11:34966784 [GRCh38]
Chr11:34988331 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1182+7C>G single nucleotide variant not provided [RCV003086565] Chr11:34984735 [GRCh38]
Chr11:35006282 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.434A>G (p.Lys145Arg) single nucleotide variant not provided [RCV003091709] Chr11:34957475 [GRCh38]
Chr11:34979022 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1070A>G (p.Gln357Arg) single nucleotide variant Inborn genetic diseases [RCV002959711] Chr11:34984616 [GRCh38]
Chr11:35006163 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.905A>G (p.Tyr302Cys) single nucleotide variant Inborn genetic diseases [RCV002746826] Chr11:34970227 [GRCh38]
Chr11:34991774 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.161-15T>G single nucleotide variant not provided [RCV002746607] Chr11:34931389 [GRCh38]
Chr11:34952936 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.480C>T (p.Arg160=) single nucleotide variant not provided [RCV002877324] Chr11:34957521 [GRCh38]
Chr11:34979068 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.28G>A (p.Asp10Asn) single nucleotide variant not provided [RCV003010177] Chr11:34916683 [GRCh38]
Chr11:34938230 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1182+4T>A single nucleotide variant Inborn genetic diseases [RCV002702869] Chr11:34984732 [GRCh38]
Chr11:35006279 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1048T>C (p.Trp350Arg) single nucleotide variant not provided [RCV003009376] Chr11:34984594 [GRCh38]
Chr11:35006141 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.557del (p.Pro186fs) deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV002810036] Chr11:34960433 [GRCh38]
Chr11:34981980 [GRCh37]
Chr11:11p13
pathogenic|likely pathogenic
NM_003477.3(PDHX):c.535A>G (p.Thr179Ala) single nucleotide variant not provided [RCV002598808] Chr11:34957576 [GRCh38]
Chr11:34979123 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.359A>G (p.Lys120Arg) single nucleotide variant not provided [RCV003043967] Chr11:34957400 [GRCh38]
Chr11:34978947 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.883A>G (p.Lys295Glu) single nucleotide variant Inborn genetic diseases [RCV002921698] Chr11:34970205 [GRCh38]
Chr11:34991752 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.744G>A (p.Gln248=) single nucleotide variant not provided [RCV002599607] Chr11:34966742 [GRCh38]
Chr11:34988289 [GRCh37]
Chr11:11p13
likely benign|uncertain significance
NM_003477.3(PDHX):c.161-2A>G single nucleotide variant not provided [RCV002579081] Chr11:34931402 [GRCh38]
Chr11:34952949 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.1089T>G (p.Ile363Met) single nucleotide variant not provided [RCV003049172] Chr11:34984635 [GRCh38]
Chr11:35006182 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1440C>T (p.Asp480=) single nucleotide variant not provided [RCV003051366] Chr11:34995106 [GRCh38]
Chr11:35016653 [GRCh37]
Chr11:11p13
likely benign
NM_003477.3(PDHX):c.47A>G (p.Tyr16Cys) single nucleotide variant not provided [RCV003072749] Chr11:34916702 [GRCh38]
Chr11:34938249 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.295G>C (p.Val99Leu) single nucleotide variant not provided [RCV003072889] Chr11:34947559 [GRCh38]
Chr11:34969106 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.800G>C (p.Gly267Ala) single nucleotide variant not provided [RCV002942548] Chr11:34966798 [GRCh38]
Chr11:34988345 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.653A>G (p.Lys218Arg) single nucleotide variant not provided [RCV002587158] Chr11:34966651 [GRCh38]
Chr11:34988198 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.166C>G (p.Pro56Ala) single nucleotide variant not provided [RCV002613258] Chr11:34931409 [GRCh38]
Chr11:34952956 [GRCh37]
Chr11:11p13
uncertain significance
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del deletion Pyruvate dehydrogenase E3-binding protein deficiency [RCV003155838] Chr11:34991685..34991834 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003131895] Chr11:34966791 [GRCh38]
Chr11:34988338 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003227587] Chr11:34966789 [GRCh38]
Chr11:34988336 [GRCh37]
Chr11:11p13
likely pathogenic
NM_003477.3(PDHX):c.19C>G (p.Leu7Val) single nucleotide variant Inborn genetic diseases [RCV003204043] Chr11:34916674 [GRCh38]
Chr11:34938221 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1279G>A (p.Glu427Lys) single nucleotide variant Inborn genetic diseases [RCV003186557] Chr11:34994945 [GRCh38]
Chr11:35016492 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003134784] Chr11:34916678 [GRCh38]
Chr11:34938225 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003134785] Chr11:34995084 [GRCh38]
Chr11:35016631 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.293C>T (p.Ala98Val) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003134787] Chr11:34947557 [GRCh38]
Chr11:34969104 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.965-319A>T single nucleotide variant not provided [RCV003222720] Chr11:34977805 [GRCh38]
Chr11:34999352 [GRCh37]
Chr11:11p13
benign
NM_003477.3(PDHX):c.623G>C (p.Arg208Pro) single nucleotide variant Inborn genetic diseases [RCV003265947] Chr11:34960500 [GRCh38]
Chr11:34982047 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro) single nucleotide variant Pyruvate dehydrogenase E3-binding protein deficiency [RCV003333453] Chr11:34916693 [GRCh38]
Chr11:34938240 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.870A>T (p.Arg290Ser) single nucleotide variant Inborn genetic diseases [RCV003359846] Chr11:34970192 [GRCh38]
Chr11:34991739 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.116G>C (p.Arg39Pro) single nucleotide variant Inborn genetic diseases [RCV003371883] Chr11:34916771 [GRCh38]
Chr11:34938318 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.199A>G (p.Thr67Ala) single nucleotide variant not provided [RCV003482011] Chr11:34931442 [GRCh38]
Chr11:34952989 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1432G>C (p.Val478Leu) single nucleotide variant not specified [RCV003388518] Chr11:34995098 [GRCh38]
Chr11:35016645 [GRCh37]
Chr11:11p13
uncertain significance
NM_003477.3(PDHX):c.1373del (p.Asn458fs) deletion not provided [RCV003713736] Chr11:34995037 [GRCh38]
Chr11:35016584 [GRCh37]
Chr11:11p13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1227
Count of miRNA genes:495
Interacting mature miRNAs:567
Transcripts:ENST00000227868, ENST00000430469, ENST00000448838, ENST00000477173, ENST00000526309, ENST00000532159, ENST00000533262, ENST00000533550
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.

Markers in Region
A008X12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371135,016,078 - 35,016,181UniSTSGRCh37
Build 361134,972,654 - 34,972,757RGDNCBI36
Celera1135,163,403 - 35,163,506RGD
Cytogenetic Map11p13UniSTS
HuRef1134,714,537 - 34,714,640UniSTS
GeneMap99-GB4 RH Map11131.29UniSTS
NCBI RH Map11209.7UniSTS
A003A07  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371135,017,234 - 35,017,339UniSTSGRCh37
Build 361134,973,810 - 34,973,915RGDNCBI36
Celera1135,164,559 - 35,164,664RGD
Cytogenetic Map11p13UniSTS
HuRef1134,715,693 - 34,715,798UniSTS
GeneMap99-GB4 RH Map11131.02UniSTS
NCBI RH Map11209.7UniSTS
PDHX_3485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371135,016,715 - 35,017,589UniSTSGRCh37
Build 361134,973,291 - 34,974,165RGDNCBI36
Celera1135,164,040 - 35,164,914RGD
HuRef1134,715,174 - 34,716,048UniSTS
RH65281  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p13UniSTS


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 2
Medium 2332 2096 1635 549 1047 395 4278 2064 3172 359 1434 1563 171 1 1181 2761 5 1
Low 105 863 91 75 872 70 79 133 562 59 26 50 4 23 27 1 1
Below cutoff 32 32 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA282215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF001437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ298105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI915296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA573433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ831669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000227868   ⟹   ENSP00000227868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,916,618 - 34,996,128 (+)Ensembl
RefSeq Acc Id: ENST00000430469   ⟹   ENSP00000415695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,916,632 - 34,995,275 (+)Ensembl
RefSeq Acc Id: ENST00000448838   ⟹   ENSP00000389404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,916,130 - 34,996,128 (+)Ensembl
RefSeq Acc Id: ENST00000477173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,984,633 - 35,020,591 (+)Ensembl
RefSeq Acc Id: ENST00000526309   ⟹   ENSP00000433204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,977,784 - 34,995,177 (+)Ensembl
RefSeq Acc Id: ENST00000532159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,977,935 - 34,984,881 (+)Ensembl
RefSeq Acc Id: ENST00000533262   ⟹   ENSP00000432277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,916,641 - 34,960,504 (+)Ensembl
RefSeq Acc Id: ENST00000533550   ⟹   ENSP00000431281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1134,915,829 - 34,960,511 (+)Ensembl
RefSeq Acc Id: NM_001135024   ⟹   NP_001128496
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,916,438 - 34,996,128 (+)NCBI
GRCh371134,937,677 - 35,017,675 (+)ENTREZGENE
HuRef1134,636,155 - 34,716,134 (+)ENTREZGENE
CHM1_11134,935,934 - 35,015,929 (+)NCBI
T2T-CHM13v2.01135,054,373 - 35,134,137 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166158   ⟹   NP_001159630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,916,618 - 34,996,128 (+)NCBI
GRCh371134,937,677 - 35,017,675 (+)ENTREZGENE
HuRef1134,636,155 - 34,716,134 (+)ENTREZGENE
CHM1_11134,935,934 - 35,015,929 (+)NCBI
T2T-CHM13v2.01135,054,550 - 35,134,137 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003477   ⟹   NP_003468
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,916,618 - 34,996,128 (+)NCBI
GRCh371134,937,677 - 35,017,675 (+)ENTREZGENE
Build 361134,894,741 - 34,974,095 (+)NCBI Archive
HuRef1134,636,155 - 34,716,134 (+)ENTREZGENE
CHM1_11134,935,934 - 35,015,929 (+)NCBI
T2T-CHM13v2.01135,054,550 - 35,134,137 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011520390   ⟹   XP_011518692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381134,915,920 - 34,996,128 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003468   ⟸   NM_003477
- Peptide Label: isoform 1 precursor
- UniProtKB: Q96FV8 (UniProtKB/Swiss-Prot),   O60221 (UniProtKB/Swiss-Prot),   E9PBP7 (UniProtKB/Swiss-Prot),   E9PB14 (UniProtKB/Swiss-Prot),   D3DR11 (UniProtKB/Swiss-Prot),   B4DW62 (UniProtKB/Swiss-Prot),   Q99783 (UniProtKB/Swiss-Prot),   O00330 (UniProtKB/Swiss-Prot),   B2R673 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159630   ⟸   NM_001166158
- Peptide Label: isoform 3 precursor
- UniProtKB: O00330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001128496   ⟸   NM_001135024
- Peptide Label: isoform 2
- UniProtKB: A0A8C8MSB2 (UniProtKB/TrEMBL),   B2R673 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518692   ⟸   XM_011520390
- Peptide Label: isoform X1
- UniProtKB: A0A8C8MSB2 (UniProtKB/TrEMBL),   B2R673 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000227868   ⟸   ENST00000227868
RefSeq Acc Id: ENSP00000432277   ⟸   ENST00000533262
RefSeq Acc Id: ENSP00000431281   ⟸   ENST00000533550
RefSeq Acc Id: ENSP00000415695   ⟸   ENST00000430469
RefSeq Acc Id: ENSP00000433204   ⟸   ENST00000526309
RefSeq Acc Id: ENSP00000389404   ⟸   ENST00000448838
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00330-F1-model_v2 AlphaFold O00330 1-501 view protein structure

Promoters
RGD ID:6789222
Promoter ID:HG_KWN:12621
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_001135024,   NM_001166158,   NM_003477
Position:
Human AssemblyChrPosition (strand)Source
Build 361134,893,991 - 34,894,912 (+)MPROMDB
RGD ID:6851652
Promoter ID:EP73628
Type:initiation region
Name:HS_PDHX
Description:Pyruvate dehydrogenase complex, lipoyl-containing component X;E3-binding protein.
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 361134,894,728 - 34,894,788EPD
RGD ID:7220055
Promoter ID:EPDNEW_H15773
Type:initiation region
Name:PDHX_1
Description:pyruvate dehydrogenase complex component X
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
GRCh381134,916,650 - 34,916,710EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21350 AgrOrtholog
COSMIC PDHX COSMIC
Ensembl Genes ENSG00000110435 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000227868 ENTREZGENE
  ENST00000227868.9 UniProtKB/Swiss-Prot
  ENST00000430469 ENTREZGENE
  ENST00000430469.6 UniProtKB/Swiss-Prot
  ENST00000448838 ENTREZGENE
  ENST00000448838.8 UniProtKB/TrEMBL
  ENST00000526309.1 UniProtKB/TrEMBL
  ENST00000533262.1 UniProtKB/TrEMBL
  ENST00000533550.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.559.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.320.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110435 GTEx
HGNC ID HGNC:21350 ENTREZGENE
Human Proteome Map PDHX Human Proteome Map
InterPro 2-oxoA_DH_lipoyl-BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2-oxoacid_DH_actylTfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAT-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E2/Pdx1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single_hybrid_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8050 UniProtKB/Swiss-Prot
NCBI Gene 8050 ENTREZGENE
OMIM 608769 OMIM
PANTHER PTHR23151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYRUVATE DEHYDROGENASE PROTEIN X COMPONENT, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 2-oxoacid_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Biotin_lipoyl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134976445 PharmGKB
PROSITE BIOTINYL_LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIPOYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PSBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP CoA-dependent acyltransferases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47005 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8C8MSB2 ENTREZGENE, UniProtKB/TrEMBL
  B2R673 ENTREZGENE, UniProtKB/TrEMBL
  B4DW62 ENTREZGENE
  D3DR11 ENTREZGENE
  E9PB14 ENTREZGENE
  E9PBP7 ENTREZGENE
  E9PLU0_HUMAN UniProtKB/TrEMBL
  E9PRI6_HUMAN UniProtKB/TrEMBL
  H0YD97_HUMAN UniProtKB/TrEMBL
  O00330 ENTREZGENE
  O60221 ENTREZGENE
  ODPX_HUMAN UniProtKB/Swiss-Prot
  Q96FV8 ENTREZGENE
  Q99783 ENTREZGENE
UniProt Secondary B4DW62 UniProtKB/Swiss-Prot
  D3DR11 UniProtKB/Swiss-Prot
  E9PB14 UniProtKB/Swiss-Prot
  E9PBP7 UniProtKB/Swiss-Prot
  O60221 UniProtKB/Swiss-Prot
  Q96FV8 UniProtKB/Swiss-Prot
  Q99783 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PDHX  pyruvate dehydrogenase complex component X    pyruvate dehydrogenase complex, component X  Symbol and/or name change 5135510 APPROVED