PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) - Rat Genome Database

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Gene: PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1) Homo sapiens
Analyze
Symbol: PDHA1
Name: pyruvate dehydrogenase E1 subunit alpha 1
RGD ID: 736556
HGNC Page HGNC
Description: Exhibits pyruvate dehydrogenase (acetyl-transferring) activity. Involved in acetyl-CoA biosynthetic process from pyruvate. Localizes to mitochondrion; nucleolus; and pyruvate dehydrogenase complex. Implicated in pyruvate decarboxylase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: PDHA; PDHAD; PDHCE1A; PDHE1-A type I; PHE1A; pyruvate dehydrogenase (lipoamide) alpha 1; pyruvate dehydrogenase alpha 1; pyruvate dehydrogenase complex, E1-alpha polypeptide 1; pyruvate dehydrogenase E1 alpha 1 subunit; pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial; pyruvate dehydrogenase E1 subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PDHA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX19,343,893 - 19,361,718 (+)EnsemblGRCh38hg38GRCh38
GRCh38X19,343,906 - 19,361,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,362,045 - 19,379,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,271,972 - 19,287,886 (+)NCBINCBI36hg18NCBI36
Build 34X19,121,707 - 19,137,622NCBI
CeleraX23,483,337 - 23,501,163 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,111,170 - 17,129,001 (+)NCBIHuRef
CHM1_1X19,393,050 - 19,410,882 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bezafibrate  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
ciguatoxin CTX1B  (ISO)
cobalt dichloride  (EXP)
D-glucose  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dichloroacetic acid  (EXP)
dinophysistoxin 1  (EXP)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
duvoglustat  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
Fusaric acid  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP)
hydrogen peroxide  (ISO)
isotretinoin  (EXP)
kojic acid  (EXP)
maneb  (ISO)
metformin  (EXP)
methamphetamine  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylmercury chloride  (EXP)
methylparaben  (EXP)
N-acetyl-L-cysteine  (EXP)
nefazodone  (ISO)
okadaic acid  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctanoic acid  (EXP,ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quinoline  (EXP)
resveratrol  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
superoxide  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal CSF pyruvate family amino acid concentration  (IAGP)
Abnormal facial shape  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of medullary pyramid morphology  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anemia  (IAGP)
Anteverted nares  (IAGP)
Apnea  (IAGP)
Apneic episodes precipitated by illness, fatigue, stress  (IAGP)
Ataxia  (IAGP)
Basal ganglia cysts  (IAGP)
Basal ganglia gliosis  (IAGP)
Basal ganglia necrosis  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar gliosis  (IAGP)
Cerebral atrophy  (IAGP)
Choreoathetosis  (IAGP)
Chronic lactic acidosis  (IAGP)
Congenital lactic acidosis  (IAGP)
Decreased activity of mitochondrial respiratory chain  (IAGP)
Decreased activity of the pyruvate dehydrogenase complex  (IAGP)
Dilation of lateral ventricles  (IAGP)
Drowsiness  (IAGP)
Dysarthria  (IAGP)
Dystonia  (IAGP)
EEG with focal sharp waves  (IAGP)
EEG with focal spikes  (IAGP)
EEG with generalized sharp slow waves  (IAGP)
Emotional lability  (IAGP)
Epileptic encephalopathy  (IAGP)
Episodic ataxia  (IAGP)
Failure to thrive  (IAGP)
Flared nostrils  (IAGP)
Flexion contracture  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hyperalaninemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertrichosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Hypsarrhythmia  (IAGP)
Inability to walk  (IAGP)
Increased CSF lactate  (IAGP)
Increased serum lactate  (IAGP)
Increased serum pyruvate  (IAGP)
Infantile onset  (IAGP)
Infantile spasms  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Lethargy  (IAGP)
Leukodystrophy  (IAGP)
Limb undergrowth  (IAGP)
Long philtrum  (IAGP)
Low APGAR score  (IAGP)
Microcephaly  (IAGP)
Neonatal respiratory distress  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nystagmus  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral neuropathy  (IAGP)
Periventricular leukomalacia  (IAGP)
Pes cavus  (IAGP)
Pigmentary retinopathy  (IAGP)
Polymicrogyria  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive spastic paraplegia  (IAGP)
Psychomotor retardation  (IAGP)
Ptosis  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent infections  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Severe lactic acidosis  (IAGP)
Single transverse palmar crease  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Talipes  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:1293379   PMID:1301207   PMID:1338114   PMID:1551669   PMID:1907799   PMID:1909401   PMID:2227443   PMID:2377599   PMID:2537010   PMID:2737678   PMID:2745444   PMID:2748588  
PMID:2828359   PMID:3034892   PMID:3422424   PMID:7273846   PMID:7545958   PMID:7573035   PMID:7757088   PMID:7782287   PMID:7853374   PMID:7864652   PMID:7887409   PMID:7967473  
PMID:8032855   PMID:8125298   PMID:8199595   PMID:8498846   PMID:8504306   PMID:8664900   PMID:8844217   PMID:9003499   PMID:9029794   PMID:9671272   PMID:9686362   PMID:9799265  
PMID:10077682   PMID:11485553   PMID:11486000   PMID:12477932   PMID:12651851   PMID:12676647   PMID:14638692   PMID:14708897   PMID:15302935   PMID:15489334   PMID:15861126   PMID:16169070  
PMID:16196087   PMID:16344560   PMID:16713755   PMID:16967364   PMID:17065338   PMID:17081983   PMID:17353931   PMID:17947500   PMID:17957032   PMID:18023225   PMID:18398624   PMID:19081061  
PMID:19517265   PMID:19586787   PMID:19615732   PMID:20562859   PMID:20833797   PMID:20958858   PMID:21081503   PMID:21139048   PMID:21145461   PMID:21470495   PMID:21630459   PMID:21723463  
PMID:21809123   PMID:21852536   PMID:21873635   PMID:21890473   PMID:21895644   PMID:21914562   PMID:21963094   PMID:22142326   PMID:22195962   PMID:22496890   PMID:22586326   PMID:22623428  
PMID:22750801   PMID:22863883   PMID:22939629   PMID:23798571   PMID:23842279   PMID:24366813   PMID:24486017   PMID:24816145   PMID:25060325   PMID:25104357   PMID:25147182   PMID:25544563  
PMID:25659154   PMID:25865307   PMID:25921289   PMID:26107902   PMID:26186194   PMID:26217791   PMID:26309161   PMID:26344197   PMID:26408721   PMID:26496610   PMID:26638075   PMID:26972000  
PMID:27025967   PMID:27474170   PMID:27684187   PMID:27871875   PMID:28076853   PMID:28378594   PMID:28410146   PMID:28495245   PMID:28514442   PMID:28564592   PMID:28581483   PMID:29117863  
PMID:29128334   PMID:29229926   PMID:29335542   PMID:29444744   PMID:29467282   PMID:29509190   PMID:29509794   PMID:29511261   PMID:29568061   PMID:29700317   PMID:29715546   PMID:29859926  
PMID:29955894   PMID:29970614   PMID:30226812   PMID:30442662   PMID:30463901   PMID:30611622   PMID:30619736   PMID:30631154   PMID:30948266   PMID:30997501   PMID:31059266   PMID:31091453  
PMID:31100640   PMID:31471554   PMID:31536960   PMID:31586073   PMID:32129710   PMID:32203420   PMID:32457219   PMID:32694731   PMID:32780723   PMID:32877691   PMID:33022274  


Genomics

Comparative Map Data
PDHA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX19,343,893 - 19,361,718 (+)EnsemblGRCh38hg38GRCh38
GRCh38X19,343,906 - 19,361,718 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X19,362,045 - 19,379,836 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,271,972 - 19,287,886 (+)NCBINCBI36hg18NCBI36
Build 34X19,121,707 - 19,137,622NCBI
CeleraX23,483,337 - 23,501,163 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX17,111,170 - 17,129,001 (+)NCBIHuRef
CHM1_1X19,393,050 - 19,410,882 (+)NCBICHM1_1
Pdha1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,905,215 - 158,921,426 (-)NCBIGRCm39mm39
GRCm39 EnsemblX158,905,205 - 158,921,409 (-)Ensembl
GRCm38X160,122,219 - 160,138,430 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX160,122,209 - 160,138,413 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X156,560,151 - 156,576,268 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X155,466,324 - 155,482,441 (-)NCBImm8
CeleraX143,366,647 - 143,382,812 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Pdha1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X34,700,481 - 34,714,309 (+)NCBI
Rnor_6.0 EnsemblX37,329,779 - 37,343,410 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X37,329,779 - 37,343,410 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X37,640,725 - 37,654,356 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,899,491 - 55,913,319 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X55,952,967 - 55,966,789 (+)NCBI
CeleraX35,373,056 - 35,386,884 (+)NCBICelera
Cytogenetic MapXq14NCBI
Pdha1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495558697,172 - 114,928 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495558698,492 - 114,927 (-)NCBIChiLan1.0ChiLan1.0
PDHA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X19,330,622 - 19,348,443 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX19,330,508 - 19,348,443 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X11,967,944 - 11,985,837 (+)NCBIMhudiblu_PPA_v0panPan3
PDHA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,338,364 - 15,354,011 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,338,202 - 15,387,458 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X15,298,232 - 15,314,012 (+)NCBI
UMICH_Zoey_3.1X15,346,993 - 15,362,754 (+)NCBI
UNSW_CanFamBas_1.0X15,348,770 - 15,364,534 (+)NCBI
UU_Cfam_GSD_1.0X15,416,047 - 15,431,830 (+)NCBI
Pdha1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X8,400,113 - 8,416,930 (+)NCBI
SpeTri2.0NW_004936844889,720 - 906,631 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDHA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,700,050 - 15,718,904 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,699,924 - 15,718,908 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,947,200 - 16,966,053 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PDHA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,804,123 - 17,820,087 (+)NCBI
Vero_WHO_p1.0NW_02366605619,671,536 - 19,689,681 (+)NCBI
Pdha1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248294,154,143 - 4,170,726 (+)NCBI

Position Markers
RH65815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,789 - 19,377,927UniSTSGRCh37
Build 36X19,287,710 - 19,287,848RGDNCBI36
CeleraX23,499,125 - 23,499,263RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,965 - 17,127,103UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH81017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,379,556 - 19,379,780UniSTSGRCh37
Build 36X19,289,477 - 19,289,701RGDNCBI36
CeleraX23,500,894 - 23,501,118RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,128,732 - 17,128,956UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
RH93821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,379,375 - 19,379,541UniSTSGRCh37
Build 36X19,289,296 - 19,289,462RGDNCBI36
CeleraX23,500,713 - 23,500,879RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,128,551 - 17,128,717UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
GDB:677354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,529 - 19,377,935UniSTSGRCh37
Build 36X19,287,450 - 19,287,856RGDNCBI36
CeleraX23,498,865 - 23,499,271RGD
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,705 - 17,127,111UniSTS
GDB:438035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,700 - 19,377,780UniSTSGRCh37
Build 36X19,287,621 - 19,287,701RGDNCBI36
CeleraX23,499,036 - 23,499,116RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,876 - 17,126,956UniSTS
GDB:192510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,362,065 - 19,362,135UniSTSGRCh37
Build 36X19,271,986 - 19,272,056RGDNCBI36
CeleraX23,483,391 - 23,483,461RGD
Cytogenetic MapXp22.1UniSTS
HuRefX17,111,224 - 17,111,294UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS
GDB:180536  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,375,781 - 19,377,794UniSTSGRCh37
Build 36X19,285,702 - 19,287,715RGDNCBI36
CeleraX23,497,117 - 23,499,130RGD
Cytogenetic MapXp22.1UniSTS
HuRefX17,124,957 - 17,126,970UniSTS
GDB:186145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,360,729 - 19,360,857UniSTSGRCh37
Build 36X19,270,650 - 19,270,778RGDNCBI36
CeleraX23,482,055 - 23,482,183RGD
Cytogenetic MapXp22.1UniSTS
HuRefX17,109,888 - 17,110,016UniSTS
DXS9734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,778 - 19,377,868UniSTSGRCh37
Build 36X19,287,699 - 19,287,789RGDNCBI36
CeleraX23,499,114 - 23,499,204RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,954 - 17,127,044UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS
Pdha1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X18,962,882 - 18,963,051UniSTSGRCh37
GRCh37X19,368,055 - 19,368,228UniSTSGRCh37
GRCh37X19,368,056 - 19,368,170UniSTSGRCh37
Build 36X19,277,976 - 19,278,149RGDNCBI36
CeleraX23,082,878 - 23,083,047UniSTS
CeleraX23,489,393 - 23,489,566RGD
CeleraX23,489,394 - 23,489,508UniSTS
HuRefX17,117,232 - 17,117,346UniSTS
HuRefX17,117,231 - 17,117,404UniSTS
HuRefX16,715,831 - 16,716,000UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:8392
Count of miRNA genes:1286
Interacting mature miRNAs:1622
Transcripts:ENST00000355808, ENST00000379804, ENST00000379805, ENST00000379806, ENST00000417819, ENST00000422285, ENST00000423505, ENST00000478795, ENST00000479146, ENST00000481733, ENST00000492364, ENST00000540249, ENST00000545074
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2438 2461 1719 617 1464 458 4357 2153 3519 417 1453 1613 175 1 1204 2788 6 2
Low 1 530 7 7 487 7 44 215 2 7
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF085457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU170389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA075402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF576990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF590116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF590117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L48690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R49470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S89908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355808   ⟹   ENSP00000348062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,950 - 19,354,570 (+)Ensembl
RefSeq Acc Id: ENST00000379804   ⟹   ENSP00000369132
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,355,582 - 19,359,844 (+)Ensembl
RefSeq Acc Id: ENST00000379805   ⟹   ENSP00000369133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,968 - 19,353,327 (+)Ensembl
RefSeq Acc Id: ENST00000379806   ⟹   ENSP00000369134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,893 - 19,361,705 (+)Ensembl
RefSeq Acc Id: ENST00000417819   ⟹   ENSP00000404616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,930 - 19,350,098 (+)Ensembl
RefSeq Acc Id: ENST00000422285   ⟹   ENSP00000394382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,927 - 19,361,718 (+)Ensembl
RefSeq Acc Id: ENST00000423505   ⟹   ENSP00000406473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,922 - 19,353,164 (+)Ensembl
RefSeq Acc Id: ENST00000478795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,357,382 - 19,359,832 (+)Ensembl
RefSeq Acc Id: ENST00000479146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,352,829 - 19,355,445 (+)Ensembl
RefSeq Acc Id: ENST00000481733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,355,318 - 19,359,025 (+)Ensembl
RefSeq Acc Id: ENST00000492364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,936 - 19,351,498 (+)Ensembl
RefSeq Acc Id: ENST00000540249   ⟹   ENSP00000440761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,893 - 19,361,705 (+)Ensembl
RefSeq Acc Id: ENST00000545074   ⟹   ENSP00000438550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX19,343,893 - 19,361,705 (+)Ensembl
RefSeq Acc Id: NM_000284   ⟹   NP_000275
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,343,927 - 19,361,718 (+)NCBI
GRCh37X19,362,011 - 19,379,825 (+)ENTREZGENE
Build 36X19,271,972 - 19,287,886 (+)NCBI Archive
HuRefX17,111,170 - 17,129,001 (+)ENTREZGENE
CHM1_1X19,393,050 - 19,410,882 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001173454   ⟹   NP_001166925
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,343,927 - 19,361,685 (+)NCBI
GRCh37X19,362,011 - 19,379,825 (+)ENTREZGENE
HuRefX17,111,170 - 17,129,001 (+)ENTREZGENE
CHM1_1X19,393,050 - 19,410,882 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001173455   ⟹   NP_001166926
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,343,927 - 19,361,685 (+)NCBI
GRCh37X19,362,011 - 19,379,825 (+)ENTREZGENE
HuRefX17,111,170 - 17,129,001 (+)ENTREZGENE
CHM1_1X19,393,050 - 19,410,882 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001173456   ⟹   NP_001166927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,343,927 - 19,361,685 (+)NCBI
GRCh37X19,362,011 - 19,379,825 (+)ENTREZGENE
HuRefX17,111,170 - 17,129,001 (+)ENTREZGENE
CHM1_1X19,393,050 - 19,410,882 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029574   ⟹   XP_016885063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,343,906 - 19,359,844 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000275 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166925 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166926 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166927 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885063 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA31853 (Get FASTA)   NCBI Sequence Viewer  
  AAA36533 (Get FASTA)   NCBI Sequence Viewer  
  AAA60050 (Get FASTA)   NCBI Sequence Viewer  
  AAA60055 (Get FASTA)   NCBI Sequence Viewer  
  AAA60227 (Get FASTA)   NCBI Sequence Viewer  
  AAB21863 (Get FASTA)   NCBI Sequence Viewer  
  AAB32351 (Get FASTA)   NCBI Sequence Viewer  
  AAB39723 (Get FASTA)   NCBI Sequence Viewer  
  AAB39724 (Get FASTA)   NCBI Sequence Viewer  
  AAB39725 (Get FASTA)   NCBI Sequence Viewer  
  AAB39726 (Get FASTA)   NCBI Sequence Viewer  
  AAB39727 (Get FASTA)   NCBI Sequence Viewer  
  AAB39728 (Get FASTA)   NCBI Sequence Viewer  
  AAB39729 (Get FASTA)   NCBI Sequence Viewer  
  AAB39730 (Get FASTA)   NCBI Sequence Viewer  
  AAB59581 (Get FASTA)   NCBI Sequence Viewer  
  AAD16047 (Get FASTA)   NCBI Sequence Viewer  
  AAD23841 (Get FASTA)   NCBI Sequence Viewer  
  AAD23842 (Get FASTA)   NCBI Sequence Viewer  
  AAD23843 (Get FASTA)   NCBI Sequence Viewer  
  AAD23844 (Get FASTA)   NCBI Sequence Viewer  
  AAD23845 (Get FASTA)   NCBI Sequence Viewer  
  AAD23846 (Get FASTA)   NCBI Sequence Viewer  
  AAD23847 (Get FASTA)   NCBI Sequence Viewer  
  AAD23848 (Get FASTA)   NCBI Sequence Viewer  
  AAD23849 (Get FASTA)   NCBI Sequence Viewer  
  AAD23850 (Get FASTA)   NCBI Sequence Viewer  
  AAD23851 (Get FASTA)   NCBI Sequence Viewer  
  AAD23852 (Get FASTA)   NCBI Sequence Viewer  
  AAD23853 (Get FASTA)   NCBI Sequence Viewer  
  AAD23854 (Get FASTA)   NCBI Sequence Viewer  
  AAD23855 (Get FASTA)   NCBI Sequence Viewer  
  AAD23856 (Get FASTA)   NCBI Sequence Viewer  
  AAD23857 (Get FASTA)   NCBI Sequence Viewer  
  AAD23858 (Get FASTA)   NCBI Sequence Viewer  
  AAD23859 (Get FASTA)   NCBI Sequence Viewer  
  AAD23860 (Get FASTA)   NCBI Sequence Viewer  
  AAD23861 (Get FASTA)   NCBI Sequence Viewer  
  AAD23862 (Get FASTA)   NCBI Sequence Viewer  
  AAD23863 (Get FASTA)   NCBI Sequence Viewer  
  AAD23864 (Get FASTA)   NCBI Sequence Viewer  
  AAD23866 (Get FASTA)   NCBI Sequence Viewer  
  AAD23867 (Get FASTA)   NCBI Sequence Viewer  
  AAD23868 (Get FASTA)   NCBI Sequence Viewer  
  AAD23869 (Get FASTA)   NCBI Sequence Viewer  
  AAD23870 (Get FASTA)   NCBI Sequence Viewer  
  AAD23871 (Get FASTA)   NCBI Sequence Viewer  
  AAD23872 (Get FASTA)   NCBI Sequence Viewer  
  AAD23873 (Get FASTA)   NCBI Sequence Viewer  
  AAD23874 (Get FASTA)   NCBI Sequence Viewer  
  AAD23875 (Get FASTA)   NCBI Sequence Viewer  
  AAD23876 (Get FASTA)   NCBI Sequence Viewer  
  AAH02406 (Get FASTA)   NCBI Sequence Viewer  
  ABQ58815 (Get FASTA)   NCBI Sequence Viewer  
  ABQ59099 (Get FASTA)   NCBI Sequence Viewer  
  BAA14121 (Get FASTA)   NCBI Sequence Viewer  
  BAD96460 (Get FASTA)   NCBI Sequence Viewer  
  BAD96708 (Get FASTA)   NCBI Sequence Viewer  
  BAG35194 (Get FASTA)   NCBI Sequence Viewer  
  BAH11476 (Get FASTA)   NCBI Sequence Viewer  
  BAH12323 (Get FASTA)   NCBI Sequence Viewer  
  BAH12361 (Get FASTA)   NCBI Sequence Viewer  
  CAA36933 (Get FASTA)   NCBI Sequence Viewer  
  CAA36934 (Get FASTA)   NCBI Sequence Viewer  
  EAW98960 (Get FASTA)   NCBI Sequence Viewer  
  EAW98961 (Get FASTA)   NCBI Sequence Viewer  
  P08559 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001166925   ⟸   NM_001173454
- Peptide Label: isoform 2 precursor
- UniProtKB: P08559 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166926   ⟸   NM_001173455
- Peptide Label: isoform 3 precursor
- UniProtKB: P08559 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000275   ⟸   NM_000284
- Peptide Label: isoform 1 precursor
- UniProtKB: P08559 (UniProtKB/Swiss-Prot),   A0A024RBX9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166927   ⟸   NM_001173456
- Peptide Label: isoform 4 precursor
- UniProtKB: P08559 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885063   ⟸   XM_017029574
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000406473   ⟸   ENST00000423505
RefSeq Acc Id: ENSP00000438550   ⟸   ENST00000545074
RefSeq Acc Id: ENSP00000404616   ⟸   ENST00000417819
RefSeq Acc Id: ENSP00000369132   ⟸   ENST00000379804
RefSeq Acc Id: ENSP00000369133   ⟸   ENST00000379805
RefSeq Acc Id: ENSP00000369134   ⟸   ENST00000379806
RefSeq Acc Id: ENSP00000348062   ⟸   ENST00000355808
RefSeq Acc Id: ENSP00000440761   ⟸   ENST00000540249
RefSeq Acc Id: ENSP00000394382   ⟸   ENST00000422285
Protein Domains
E1_dh

Promoters
RGD ID:6808724
Promoter ID:HG_KWN:66176
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:ENST00000379805,   ENST00000379815,   NM_000284,   NM_001173454,   NM_001173455,   NM_001173456,   OTTHUMT00000055980,   OTTHUMT00000055981,   OTTHUMT00000055982,   OTTHUMT00000055983,   UC010NFK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,271,171 - 19,272,062 (+)MPROMDB
RGD ID:6850434
Promoter ID:EP73008
Type:initiation region
Name:HS_PDHA1
Description:Pyruvate dehydrogenase (lipoamide) alpha 1.
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 36X19,271,967 - 19,272,027EPD
RGD ID:6808720
Promoter ID:HG_KWN:66178
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000379804,   OTTHUMT00000055978,   UC010NFL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,282,806 - 19,283,306 (+)MPROMDB
RGD ID:6809108
Promoter ID:HG_KWN:66179
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000055979
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,284,856 - 19,285,712 (+)MPROMDB
RGD ID:13604884
Promoter ID:EPDNEW_H28627
Type:initiation region
Name:PDHA1_1
Description:pyruvate dehydrogenase alpha 1
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
GRCh38X19,343,950 - 19,344,010EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000284.4(PDHA1):c.1163_1166CAGT[1] (p.Ser390fs) microsatellite Pyruvate dehydrogenase E1-alpha deficiency [RCV000011618] ChrX:19359640..19359643 [GRCh38]
ChrX:19377758..19377761 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs) microsatellite Pyruvate dehydrogenase E1-alpha deficiency [RCV000011619]|not provided [RCV001092567] ChrX:19358941..19358947 [GRCh38]
ChrX:19377059..19377065 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000011622] ChrX:19359639..19359640 [GRCh38]
ChrX:19377757..19377758 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000011623] ChrX:19359550..19359569 [GRCh38]
ChrX:19377668..19377687 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.900-3_917dup duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000011624] ChrX:19358911..19358912 [GRCh38]
ChrX:19377029..19377030 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011625]|not provided [RCV000196576] ChrX:19355713 [GRCh38]
ChrX:19373831 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) duplication Inborn genetic diseases [RCV000624104]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011627]|not provided [RCV000199126] ChrX:19359619..19359620 [GRCh38]
ChrX:19377737..19377738 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs) insertion Pyruvate dehydrogenase E1-alpha deficiency [RCV000011633] ChrX:19357681..19357682 [GRCh38]
ChrX:19375799..19375800 [GRCh37]
ChrX:Xp22.12
pathogenic
PDHA1, 13-BP INS, EX10 insertion Pyruvate dehydrogenase E1-alpha deficiency [RCV000011635] ChrX:Xp22.2-p22.1 pathogenic
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000011636] ChrX:19359553..19359554 [GRCh38]
ChrX:19377671..19377672 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*79_*90dup duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000011638] ChrX:19359731..19359732 [GRCh38]
ChrX:19377849..19377850 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs) duplication not provided [RCV000522649] ChrX:19359513..19359514 [GRCh38]
ChrX:19377631..19377632 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000578270] ChrX:19353118 [GRCh38]
ChrX:19371236 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011620]|not provided [RCV001267918] ChrX:19359613 [GRCh38]
ChrX:19377731 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.938_940del (p.Lys313del) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000011621] ChrX:19358953..19358955 [GRCh38]
ChrX:19377071..19377073 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) single nucleotide variant Inborn genetic diseases [RCV000622696]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011626]|not provided [RCV000199671] ChrX:19358920 [GRCh38]
ChrX:19377038 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011628] ChrX:19355699 [GRCh38]
ChrX:19373817 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011629] ChrX:19355360 [GRCh38]
ChrX:19373478 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011630] ChrX:19355472 [GRCh38]
ChrX:19373590 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011631]|not provided [RCV001268860] ChrX:19358959 [GRCh38]
ChrX:19377077 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000715720]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000011632]|Pyruvate dehydrogenase complex deficiency [RCV001271289]|not provided [RCV000224670]|not specified [RCV000127400] ChrX:19357664 [GRCh38]
ChrX:19375782 [GRCh37]
ChrX:Xp22.12
pathogenic|benign
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011634] ChrX:19344066 [GRCh38]
ChrX:19362184 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.863G>A (p.Arg288His) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011637] ChrX:19357683 [GRCh38]
ChrX:19375801 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.3(PDHA1):c.787C>G (p.Arg263Gly) single nucleotide variant X-linked Leigh syndrome [RCV000011639] ChrX:19355713 [GRCh38]
ChrX:19373831 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000011640] ChrX:19355393 [GRCh38]
ChrX:19373511 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001218777]|not provided [RCV000078557] ChrX:19353146 [GRCh38]
ChrX:19371264 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000284.4(PDHA1):c.760-15C>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166389]|not specified [RCV000078558] ChrX:19355671 [GRCh38]
ChrX:19373789 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) single nucleotide variant History of neurodevelopmental disorder [RCV000715236]|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166390]|Pyruvate dehydrogenase complex deficiency [RCV001271288]|not provided [RCV000676882]|not specified [RCV000078559] ChrX:19355721 [GRCh38]
ChrX:19373839 [GRCh37]
ChrX:Xp22.12
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000284.4(PDHA1):c.604-15C>T single nucleotide variant not specified [RCV000127396] ChrX:19355334 [GRCh38]
ChrX:19373452 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.831+15C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166392]|not specified [RCV000127399] ChrX:19355772 [GRCh38]
ChrX:19373890 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.899+12G>A single nucleotide variant not specified [RCV000127401] ChrX:19357731 [GRCh38]
ChrX:19375849 [GRCh37]
ChrX:Xp22.12
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) single nucleotide variant Inborn genetic diseases [RCV000190809]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000960645]|not specified [RCV000200145] ChrX:19355710 [GRCh38]
ChrX:19373828 [GRCh37]
ChrX:Xp22.12
likely pathogenic|benign|likely benign|uncertain significance
NM_000284.4(PDHA1):c.57+2410dup duplication not provided [RCV000515065] ChrX:19346494..19346495 [GRCh38]
ChrX:19364612..19364613 [GRCh37]
ChrX:Xp22.12
pathogenic|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.*1193_*1194CA[1] microsatellite not provided [RCV000513956] ChrX:19360845..19360846 [GRCh38]
ChrX:19378963..19378964 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.13-22.12(chrX:19073372-19743908)x2 copy number gain See cases [RCV000137714] ChrX:19073372..19743908 [GRCh38]
ChrX:19091490..19762026 [GRCh37]
ChrX:19001411..19671947 [NCBI36]
ChrX:Xp22.13-22.12
uncertain significance
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.12(chrX:19346879-19351270)x3 copy number gain See cases [RCV000141153] ChrX:19346879..19351270 [GRCh38]
ChrX:19364997..19369388 [GRCh37]
ChrX:19274918..19279309 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.12(chrX:19346151-19351270)x3 copy number gain See cases [RCV000142935] ChrX:19346151..19351270 [GRCh38]
ChrX:19364269..19369388 [GRCh37]
ChrX:19274190..19279309 [NCBI36]
ChrX:Xp22.12
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) single nucleotide variant not provided [RCV000178069] ChrX:19351300 [GRCh38]
ChrX:19369418 [GRCh37]
ChrX:Xp22.12
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000899471]|not specified [RCV000194225] ChrX:19359000 [GRCh38]
ChrX:19377118 [GRCh37]
ChrX:Xp22.12
likely benign|uncertain significance
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) single nucleotide variant not provided [RCV000179743] ChrX:19355373 [GRCh38]
ChrX:19373491 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000184034] ChrX:19353085 [GRCh38]
ChrX:19371203 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000760291]|not provided [RCV000196688] ChrX:19358926 [GRCh38]
ChrX:19377044 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001079335]|not provided [RCV000200467] ChrX:19359639 [GRCh38]
ChrX:19377757 [GRCh37]
ChrX:Xp22.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000284.3(PDHA1):c.451G>A (p.Gly151Arg) single nucleotide variant not provided [RCV000200537] ChrX:19353114 [GRCh38]
ChrX:19371232 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp) single nucleotide variant not provided [RCV001091314] ChrX:19351368 [GRCh38]
ChrX:19369486 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.463A>T (p.Met155Leu) single nucleotide variant not provided [RCV000196954] ChrX:19353126 [GRCh38]
ChrX:19371244 [GRCh37]
ChrX:Xp22.12
likely pathogenic|uncertain significance
NM_000284.4(PDHA1):c.707C>A (p.Ala236Glu) single nucleotide variant not provided [RCV000197492] ChrX:19355452 [GRCh38]
ChrX:19373570 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) single nucleotide variant not provided [RCV000197779] ChrX:19357674 [GRCh38]
ChrX:19375792 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1008+1_1008+27del deletion not provided [RCV000197927] ChrX:19359024..19359050 [GRCh38]
ChrX:19377142..19377168 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.604-10C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000963408]|not specified [RCV000197964] ChrX:19355339 [GRCh38]
ChrX:19373457 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys) single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV001276605]|not provided [RCV000198050] ChrX:19349336 [GRCh38]
ChrX:19367454 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.292-1G>A single nucleotide variant not provided [RCV000198524] ChrX:19351280 [GRCh38]
ChrX:19369398 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000497402]|not provided [RCV000198575] ChrX:19359612 [GRCh38]
ChrX:19377730 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV001254096]|not provided [RCV000198854] ChrX:19358949..19358952 [GRCh38]
ChrX:19377067..19377070 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter) duplication not provided [RCV000195575] ChrX:19359637..19359638 [GRCh38]
ChrX:19377755..19377756 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) single nucleotide variant History of neurodevelopmental disorder [RCV000716572]|Pyruvate dehydrogenase E1-alpha deficiency [RCV001088112]|not provided [RCV000433475]|not specified [RCV000195613] ChrX:19349351 [GRCh38]
ChrX:19367469 [GRCh37]
ChrX:Xp22.12
benign|likely benign|uncertain significance
NM_000284.4(PDHA1):c.899+18G>A single nucleotide variant not specified [RCV000199164] ChrX:19357737 [GRCh38]
ChrX:19375855 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000640506]|not provided [RCV000199416] ChrX:19353169 [GRCh38]
ChrX:19371287 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001224932]|not provided [RCV000196049] ChrX:19358952..19358953 [GRCh38]
ChrX:19377070..19377071 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.985_998dup (p.Glu333fs) duplication not provided [RCV000199933] ChrX:19359000..19359001 [GRCh38]
ChrX:19377118..19377119 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) single nucleotide variant Inborn genetic diseases [RCV000624128]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000692713]|not provided [RCV000505722] ChrX:19350033 [GRCh38]
ChrX:19368151 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000578439] ChrX:19354516 [GRCh38]
ChrX:19372634 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.760-1G>T single nucleotide variant not provided [RCV000255781] ChrX:19355685 [GRCh38]
ChrX:19373803 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
NM_000284.4(PDHA1):c.900-2A>G single nucleotide variant not provided [RCV000520525] ChrX:19358914 [GRCh38]
ChrX:19377032 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.640T>C (p.Trp214Arg) single nucleotide variant not provided [RCV000292563] ChrX:19355385 [GRCh38]
ChrX:19373503 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.954dup (p.Leu319fs) duplication not provided [RCV000350025] ChrX:19358969..19358970 [GRCh38]
ChrX:19377087..19377088 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1133G>T (p.Arg378Leu) single nucleotide variant not provided [RCV000323139] ChrX:19359613 [GRCh38]
ChrX:19377731 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001088476]|not provided [RCV000725565]|not specified [RCV000369043] ChrX:19353170 [GRCh38]
ChrX:19371288 [GRCh37]
ChrX:Xp22.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr) single nucleotide variant not provided [RCV000407596] ChrX:19359525 [GRCh38]
ChrX:19377643 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.930_932AAG[1] (p.Arg311del) microsatellite Pyruvate dehydrogenase E1-alpha deficiency [RCV000578365] ChrX:19358946..19358948 [GRCh38]
ChrX:19377064..19377066 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000578359]|not provided [RCV001091316] ChrX:19353154 [GRCh38]
ChrX:19371272 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.832-1G>A single nucleotide variant Inborn genetic diseases [RCV000622952] ChrX:19357651 [GRCh38]
ChrX:19375769 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.929_932del (p.Val310fs) deletion not provided [RCV000598643] ChrX:19358942..19358945 [GRCh38]
ChrX:19377060..19377063 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) deletion Pyruvate dehydrogenase complex deficiency [RCV001271291]|not specified [RCV000627391] ChrX:19359652..19359656 [GRCh38]
ChrX:19377770..19377774 [GRCh37]
ChrX:Xp22.12
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000284.4(PDHA1):c.616G>C (p.Glu206Gln) single nucleotide variant Inborn genetic diseases [RCV000623785] ChrX:19355361 [GRCh38]
ChrX:19373479 [GRCh37]
ChrX:Xp22.12
likely pathogenic|uncertain significance
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) duplication Pyruvate dehydrogenase complex deficiency [RCV000587877] ChrX:19359529..19359530 [GRCh38]
ChrX:19377647..19377648 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.118-17A>G single nucleotide variant not specified [RCV000599835] ChrX:19349920 [GRCh38]
ChrX:19368038 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000415066] ChrX:19353090 [GRCh38]
ChrX:19371208 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.292-23A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000415131] ChrX:19351258 [GRCh38]
ChrX:19369376 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001196164]|Seizures [RCV000415390] ChrX:19349319 [GRCh38]
ChrX:19367437 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs) duplication not provided [RCV000413173] ChrX:19357675..19357676 [GRCh38]
ChrX:19375793..19375794 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.921_932dup (p.Arg311_Ser312insSerGlnGluVal) duplication not provided [RCV000413235] ChrX:19358936..19358937 [GRCh38]
ChrX:19377054..19377055 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.510+12C>T single nucleotide variant not specified [RCV000437755] ChrX:19353185 [GRCh38]
ChrX:19371303 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.-23G>C single nucleotide variant not specified [RCV000437774] ChrX:19344015 [GRCh38]
ChrX:19362133 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) single nucleotide variant History of neurodevelopmental disorder [RCV000719832]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000916825]|not specified [RCV000437837] ChrX:19355438 [GRCh38]
ChrX:19373556 [GRCh37]
ChrX:Xp22.12
benign|likely benign
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) single nucleotide variant History of neurodevelopmental disorder [RCV000718338]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000883866]|not specified [RCV000434853] ChrX:19359015 [GRCh38]
ChrX:19377133 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000680062] ChrX:19354503 [GRCh38]
ChrX:19372621 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) single nucleotide variant History of neurodevelopmental disorder [RCV000718121]|Pyruvate dehydrogenase E1-alpha deficiency [RCV000889181]|not specified [RCV000425015] ChrX:19355724 [GRCh38]
ChrX:19373842 [GRCh37]
ChrX:Xp22.12
benign|likely benign
NM_000284.4(PDHA1):c.57+2482G>A single nucleotide variant not provided [RCV000421566]|not specified [RCV000483743] ChrX:19346576 [GRCh38]
ChrX:19364694 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=) single nucleotide variant not specified [RCV000422060] ChrX:19357681 [GRCh38]
ChrX:19375799 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.900-10C>A single nucleotide variant not specified [RCV000439497] ChrX:19358906 [GRCh38]
ChrX:19377024 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001250113]|not provided [RCV000427505] ChrX:19357652 [GRCh38]
ChrX:19375770 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000680061] ChrX:19350084 [GRCh38]
ChrX:19368202 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1869G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166981]|not provided [RCV000430059] ChrX:19361522 [GRCh38]
ChrX:19379640 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.604-14G>A single nucleotide variant not specified [RCV000443835] ChrX:19355335 [GRCh38]
ChrX:19373453 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.117+19T>A single nucleotide variant not specified [RCV000444048] ChrX:19349390 [GRCh38]
ChrX:19367508 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.1025T>G (p.Val342Gly) single nucleotide variant not provided [RCV000435734] ChrX:19359505 [GRCh38]
ChrX:19377623 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.905G>A (p.Arg302His) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001216859]|not provided [RCV000481593] ChrX:19358921 [GRCh38]
ChrX:19377039 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*10_*12del deletion not specified [RCV000483624] ChrX:19359661..19359663 [GRCh38]
ChrX:19377779..19377781 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000887200]|not specified [RCV000481535] ChrX:19359652..19359657 [GRCh38]
ChrX:19377770..19377775 [GRCh37]
ChrX:Xp22.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000284.4(PDHA1):c.746T>G (p.Ile249Ser) single nucleotide variant not provided [RCV000486536] ChrX:19355491 [GRCh38]
ChrX:19373609 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.759+26GGCCAA[4] microsatellite not specified [RCV000482729] ChrX:19355529..19355530 [GRCh38]
ChrX:19373647..19373648 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000284.4(PDHA1):c.754C>G (p.Leu252Val) single nucleotide variant not provided [RCV000497732] ChrX:19355499 [GRCh38]
ChrX:19373617 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.364G>A (p.Gly122Ser) single nucleotide variant not provided [RCV000497889] ChrX:19351353 [GRCh38]
ChrX:19369471 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000284.4(PDHA1):c.738C>T (p.Gly246=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000995830]|not provided [RCV000498403] ChrX:19355483 [GRCh38]
ChrX:19373601 [GRCh37]
ChrX:Xp22.12
pathogenic|likely pathogenic
NM_000284.4(PDHA1):c.409G>A (p.Glu137Lys) single nucleotide variant not provided [RCV000498478] ChrX:19351398 [GRCh38]
ChrX:19369516 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV000493478] ChrX:19359526 [GRCh38]
ChrX:19377644 [GRCh37]
ChrX:Xp22.12
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.1100A>C (p.His367Pro) single nucleotide variant not provided [RCV000493915] ChrX:19359580 [GRCh38]
ChrX:19377698 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu) single nucleotide variant not provided [RCV000494486] ChrX:19355395 [GRCh38]
ChrX:19373513 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.461A>G (p.His154Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000495894] ChrX:19353124 [GRCh38]
ChrX:19371242 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.900-17C>T single nucleotide variant not specified [RCV000604536] ChrX:19358899 [GRCh38]
ChrX:19377017 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001082627]|not provided [RCV000513883] ChrX:19351395 [GRCh38]
ChrX:19369513 [GRCh37]
ChrX:Xp22.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser) single nucleotide variant Inborn genetic diseases [RCV000624811] ChrX:19355480 [GRCh38]
ChrX:19373598 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000640507] ChrX:19353097 [GRCh38]
ChrX:19371215 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Torticollis [RCV000626551] ChrX:19030055..19591281 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) single nucleotide variant not specified [RCV000616059] ChrX:19353119 [GRCh38]
ChrX:19371237 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.292-5C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000893425]|not specified [RCV000613164] ChrX:19351276 [GRCh38]
ChrX:19369394 [GRCh37]
ChrX:Xp22.12
benign|likely benign
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001088181]|not provided [RCV000933377]|not specified [RCV000611587] ChrX:19351385 [GRCh38]
ChrX:19369503 [GRCh37]
ChrX:Xp22.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000284.4(PDHA1):c.363C>T (p.His121=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000929760]|not specified [RCV000604084] ChrX:19351352 [GRCh38]
ChrX:19369470 [GRCh37]
ChrX:Xp22.12
benign|likely benign
NM_000284.4(PDHA1):c.147C>T (p.Gly49=) single nucleotide variant not specified [RCV000611954] ChrX:19349966 [GRCh38]
ChrX:19368084 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000939917]|not specified [RCV000605471] ChrX:19350071 [GRCh38]
ChrX:19368189 [GRCh37]
ChrX:Xp22.12
benign|likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_000284.4(PDHA1):c.759+26G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000640505] ChrX:19355530 [GRCh38]
ChrX:19373648 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000679875] ChrX:19359506..19359519 [GRCh38]
ChrX:19377624..19377637 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs) microsatellite Pyruvate dehydrogenase E1-alpha deficiency [RCV000721985] ChrX:19355714..19355715 [GRCh38]
ChrX:19373832..19373833 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.489C>T (p.Gly163=) single nucleotide variant not provided [RCV000676881] ChrX:19353152 [GRCh38]
ChrX:19371270 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000679874] ChrX:19353145 [GRCh38]
ChrX:19371263 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NM_000284.4(PDHA1):c.58-1G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000688120] ChrX:19349311 [GRCh38]
ChrX:19367429 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000721984] ChrX:19351288..19351289 [GRCh38]
ChrX:19369406..19369407 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) single nucleotide variant History of neurodevelopmental disorder [RCV000717370]|Pyruvate dehydrogenase E1-alpha deficiency [RCV001329774] ChrX:19358988 [GRCh38]
ChrX:19377106 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.12(chrX:19374283-19374803)x0 copy number loss not provided [RCV000753409] ChrX:19374283..19374803 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.12(chrX:19374543-19374803)x0 copy number loss not provided [RCV000753411] ChrX:19374543..19374803 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.12(chrX:19374387-19374803)x0 copy number loss not provided [RCV000753410] ChrX:19374387..19374803 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.291+1_418+1dup duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000735827] ChrX:19350109..19350110 [GRCh38]
ChrX:19368227..19368228 [GRCh37]
ChrX:Xp22.12
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.642G>A (p.Trp214Ter) single nucleotide variant not provided [RCV000760671] ChrX:19355387 [GRCh38]
ChrX:19373505 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.*319G>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166912] ChrX:19359972 [GRCh38]
ChrX:19378090 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*392G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166916] ChrX:19360045 [GRCh38]
ChrX:19378163 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.13-22.12(chrX:19167477-19595672)x3 copy number gain not provided [RCV001007270] ChrX:19167477..19595672 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000284.4(PDHA1):c.*1598G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166451] ChrX:19361251 [GRCh38]
ChrX:19379369 [GRCh37]
ChrX:Xp22.12
benign
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000928569] ChrX:19351307 [GRCh38]
ChrX:19369425 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.759+9del deletion not provided [RCV000928094] ChrX:19355513 [GRCh38]
ChrX:19373631 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.899+9A>G single nucleotide variant not provided [RCV000914858] ChrX:19357728 [GRCh38]
ChrX:19375846 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000944426] ChrX:19359590 [GRCh38]
ChrX:19377708 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000882077] ChrX:19355739 [GRCh38]
ChrX:19373857 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001007886] ChrX:19359540 [GRCh38]
ChrX:19377658 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001044643] ChrX:19357693..19357694 [GRCh38]
ChrX:19375811..19375812 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001090049] ChrX:19354502 [GRCh38]
ChrX:19372620 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1018G>A (p.Val340Met) single nucleotide variant not specified [RCV000780581] ChrX:19359498 [GRCh38]
ChrX:19377616 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1009-23T>C single nucleotide variant not specified [RCV000780583] ChrX:19359466 [GRCh38]
ChrX:19377584 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp) single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV000770934] ChrX:19350044 [GRCh38]
ChrX:19368162 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000907000]|Pyruvate dehydrogenase complex deficiency [RCV001276607] ChrX:19359594 [GRCh38]
ChrX:19377712 [GRCh37]
ChrX:Xp22.12
benign|likely benign
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000977290] ChrX:19355691 [GRCh38]
ChrX:19373809 [GRCh37]
ChrX:Xp22.12
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000284.4(PDHA1):c.759+10C>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000897720] ChrX:19355514 [GRCh38]
ChrX:19373632 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166393]|not provided [RCV000940803] ChrX:19357714 [GRCh38]
ChrX:19375832 [GRCh37]
ChrX:Xp22.12
benign|uncertain significance
NM_000284.4(PDHA1):c.899+8C>T single nucleotide variant not provided [RCV000978575] ChrX:19357727 [GRCh38]
ChrX:19375845 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.870C>T (p.His290=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000980963]|Pyruvate dehydrogenase complex deficiency [RCV001276606] ChrX:19357690 [GRCh38]
ChrX:19375808 [GRCh37]
ChrX:Xp22.12
benign|uncertain significance
NM_000284.4(PDHA1):c.1009-22_1057dup duplication not specified [RCV000780582] ChrX:19359466..19359467 [GRCh38]
ChrX:19377584..19377585 [GRCh37]
ChrX:Xp22.12
uncertain significance
NC_000023.11:g.19343843G>A single nucleotide variant not provided [RCV000835658] ChrX:19343843 [GRCh38]
ChrX:19361961 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000937027] ChrX:19359542 [GRCh38]
ChrX:19377660 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) single nucleotide variant not provided [RCV000975923] ChrX:19350059 [GRCh38]
ChrX:19368177 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV000816048] ChrX:19359597..19359608 [GRCh38]
ChrX:19377715..19377726 [GRCh37]
ChrX:Xp22.12
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000284.4(PDHA1):c.1009-211T>C single nucleotide variant not provided [RCV000843566] ChrX:19359278 [GRCh38]
ChrX:19377396 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000805497] ChrX:19355437 [GRCh38]
ChrX:19373555 [GRCh37]
ChrX:Xp22.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000811945] ChrX:19357659 [GRCh38]
ChrX:19375777 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000824394]|Pyruvate dehydrogenase complex deficiency [RCV001271287] ChrX:19351308 [GRCh38]
ChrX:19369426 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000284.4(PDHA1):c.510+187C>T single nucleotide variant not provided [RCV000833483] ChrX:19353360 [GRCh38]
ChrX:19371478 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.*432C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166917] ChrX:19360085 [GRCh38]
ChrX:19378203 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.831+2T>C single nucleotide variant not provided [RCV001091319] ChrX:19355759 [GRCh38]
ChrX:19373877 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000284.4(PDHA1):c.*1376C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166445] ChrX:19361029 [GRCh38]
ChrX:19379147 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*729G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168630] ChrX:19360382 [GRCh38]
ChrX:19378500 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1624T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166452] ChrX:19361277 [GRCh38]
ChrX:19379395 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.624dup (p.Asn209fs) duplication not provided [RCV001091317] ChrX:19355368..19355369 [GRCh38]
ChrX:19373486..19373487 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter) duplication not provided [RCV001091318] ChrX:19355464..19355465 [GRCh38]
ChrX:19373582..19373583 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000990498] ChrX:19355746..19355747 [GRCh38]
ChrX:19373864..19373865 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.-88G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169324] ChrX:19343950 [GRCh38]
ChrX:19362068 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.832-211A>G single nucleotide variant not provided [RCV000833035] ChrX:19357441 [GRCh38]
ChrX:19375559 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000982094] ChrX:19355402 [GRCh38]
ChrX:19373520 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.419-249T>C single nucleotide variant not provided [RCV000843558] ChrX:19352833 [GRCh38]
ChrX:19370951 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.510+236G>T single nucleotide variant not provided [RCV000843560] ChrX:19353409 [GRCh38]
ChrX:19371527 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.511-178G>C single nucleotide variant not provided [RCV000843561] ChrX:19354313 [GRCh38]
ChrX:19372431 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000822565] ChrX:19355452 [GRCh38]
ChrX:19373570 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000789029] ChrX:19355494 [GRCh38]
ChrX:19373612 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV000793164] ChrX:19358949..19358950 [GRCh38]
ChrX:19377067..19377068 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*1208A>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169393] ChrX:19360861 [GRCh38]
ChrX:19378979 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166388] ChrX:19355405 [GRCh38]
ChrX:19373523 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1563C>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166450] ChrX:19361216 [GRCh38]
ChrX:19379334 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*322G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166914] ChrX:19359975 [GRCh38]
ChrX:19378093 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.711_738dup (p.Asp247delinsSerGlnHisTer) duplication not provided [RCV001008886] ChrX:19355452..19355453 [GRCh38]
ChrX:19373570..19373571 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000850376] ChrX:19358923 [GRCh38]
ChrX:19377041 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001233682] ChrX:19354511 [GRCh38]
ChrX:19372629 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001204675] ChrX:19357682 [GRCh38]
ChrX:19375800 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19258311-20193960)x2 copy number gain not provided [RCV000845973] ChrX:19258311..20193960 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000990497] ChrX:19344053 [GRCh38]
ChrX:19362171 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000995601] ChrX:19355387 [GRCh38]
ChrX:19373505 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.12(chrX:19362156-19377771)x4 copy number gain not provided [RCV000996087] ChrX:19362156..19377771 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.724_727dup (p.Tyr243fs) duplication not provided [RCV001008639] ChrX:19355467..19355468 [GRCh38]
ChrX:19373585..19373586 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*614G>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168627] ChrX:19360267 [GRCh38]
ChrX:19378385 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1377G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166446] ChrX:19361030 [GRCh38]
ChrX:19379148 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.1014_1034dup (p.Glu345_Ile346insAspAspValGluValArgLys) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001199066] ChrX:19359493..19359494 [GRCh38]
ChrX:19377611..19377612 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.807T>C (p.Ala269=) single nucleotide variant not provided [RCV001200312] ChrX:19355733 [GRCh38]
ChrX:19373851 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.*525C>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166918] ChrX:19360178 [GRCh38]
ChrX:19378296 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1926G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166982] ChrX:19361579 [GRCh38]
ChrX:19379697 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.*864G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169390] ChrX:19360517 [GRCh38]
ChrX:19378635 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) single nucleotide variant not provided [RCV000978840] ChrX:19349981 [GRCh38]
ChrX:19368099 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.57+2531T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001198456] ChrX:19346625 [GRCh38]
ChrX:19364743 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=) single nucleotide variant not provided [RCV001200313] ChrX:19359626 [GRCh38]
ChrX:19377744 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.*321C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166913] ChrX:19359974 [GRCh38]
ChrX:19378092 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1779A>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166980] ChrX:19361432 [GRCh38]
ChrX:19379550 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) single nucleotide variant not provided [RCV000935750] ChrX:19359579 [GRCh38]
ChrX:19377697 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.57+6A>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV000933938] ChrX:19344100 [GRCh38]
ChrX:19362218 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) single nucleotide variant not provided [RCV000935300] ChrX:19351400 [GRCh38]
ChrX:19369518 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001028058] ChrX:19354491 [GRCh38]
ChrX:19372609 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.*857A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168632] ChrX:19360510 [GRCh38]
ChrX:19378628 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.-98C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169323] ChrX:19343940 [GRCh38]
ChrX:19362058 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.900-2dup duplication not specified [RCV001175036] ChrX:19358913..19358914 [GRCh38]
ChrX:19377031..19377032 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001045143] ChrX:19358976..19358977 [GRCh38]
ChrX:19377094..19377095 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1450C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166448] ChrX:19361103 [GRCh38]
ChrX:19379221 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*349A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166915] ChrX:19360002 [GRCh38]
ChrX:19378120 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.998_1008+20dup duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001197847] ChrX:19359010..19359011 [GRCh38]
ChrX:19377128..19377129 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*707G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168628] ChrX:19360360 [GRCh38]
ChrX:19378478 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*844A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168631] ChrX:19360497 [GRCh38]
ChrX:19378615 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*575T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168626] ChrX:19360228 [GRCh38]
ChrX:19378346 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*728C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168629] ChrX:19360381 [GRCh38]
ChrX:19378499 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.-79C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169325] ChrX:19343959 [GRCh38]
ChrX:19362077 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.69G>A (p.Val23=) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169326] ChrX:19349323 [GRCh38]
ChrX:19367441 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.291+12G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169327] ChrX:19350122 [GRCh38]
ChrX:19368240 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1347C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169397] ChrX:19361000 [GRCh38]
ChrX:19379118 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001063202]|Pyruvate dehydrogenase complex deficiency [RCV001271290] ChrX:19359511 [GRCh38]
ChrX:19377629 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1013C>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169391] ChrX:19360666 [GRCh38]
ChrX:19378784 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1297G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169394] ChrX:19360950 [GRCh38]
ChrX:19379068 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1080_1099del (p.Leu361fs) deletion not provided [RCV001092568] ChrX:19359557..19359576 [GRCh38]
ChrX:19377675..19377694 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*549A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168625] ChrX:19360202 [GRCh38]
ChrX:19378320 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) single nucleotide variant not provided [RCV001091315] ChrX:19351369 [GRCh38]
ChrX:19369487 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001067311] ChrX:19355432 [GRCh38]
ChrX:19373550 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.*1059G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169392] ChrX:19360712 [GRCh38]
ChrX:19378830 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1306G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169395] ChrX:19360959 [GRCh38]
ChrX:19379077 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1345A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169396] ChrX:19360998 [GRCh38]
ChrX:19379116 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*110C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166394] ChrX:19359763 [GRCh38]
ChrX:19377881 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1394C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166447] ChrX:19361047 [GRCh38]
ChrX:19379165 [GRCh37]
ChrX:Xp22.12
benign
NM_000284.4(PDHA1):c.*1458C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166449] ChrX:19361111 [GRCh38]
ChrX:19379229 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*198G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166911] ChrX:19359851 [GRCh38]
ChrX:19377969 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.*1682T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166979] ChrX:19361335 [GRCh38]
ChrX:19379453 [GRCh37]
ChrX:Xp22.12
benign
NC_000023.10:g.(?_18660114)_(19377781_?)del deletion Pyruvate dehydrogenase E1-alpha deficiency [RCV001033913] ChrX:18660114..19377781 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001253745] ChrX:19358964..19358965 [GRCh38]
ChrX:19377082..19377083 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs) duplication Inborn genetic diseases [RCV001265730] ChrX:19358963..19358964 [GRCh38]
ChrX:19377081..19377082 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs) duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001265577] ChrX:19358932..19358933 [GRCh38]
ChrX:19377050..19377051 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.303T>G (p.Cys101Trp) single nucleotide variant Inborn genetic diseases [RCV001267261] ChrX:19351292 [GRCh38]
ChrX:19369410 [GRCh37]
ChrX:Xp22.12
uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Unilateral renal agenesis [RCV001291960] ChrX:19183657..20215858 [GRCh37]
ChrX:Xp22.13-22.12
pathogenic
NM_000284.4(PDHA1):c.5G>C (p.Arg2Thr) single nucleotide variant Neurodevelopmental abnormality [RCV001264665] ChrX:19344042 [GRCh38]
ChrX:19362160 [GRCh37]
ChrX:Xp22.12
likely benign
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001262561] ChrX:19359578 [GRCh38]
ChrX:19377696 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.1025_1032del (p.Val342fs) deletion not provided [RCV001268185] ChrX:19359500..19359507 [GRCh38]
ChrX:19377618..19377625 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19212948-19369492)x2 copy number gain not provided [RCV001259458] ChrX:19212948..19369492 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3 copy number gain not provided [RCV001259459] ChrX:18582617..19417295 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000284.4(PDHA1):c.499G>A (p.Val167Met) single nucleotide variant Inborn genetic diseases [RCV001266517] ChrX:19353162 [GRCh38]
ChrX:19371280 [GRCh37]
ChrX:Xp22.12
likely pathogenic
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys) single nucleotide variant Seizures [RCV001281432] ChrX:19359016 [GRCh38]
ChrX:19377134 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001329772] ChrX:19355747 [GRCh38]
ChrX:19373865 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu) single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001281574] ChrX:19359580 [GRCh38]
ChrX:19377698 [GRCh37]
ChrX:Xp22.12
pathogenic
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val) single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV001279593] ChrX:19355406 [GRCh38]
ChrX:19373524 [GRCh37]
ChrX:Xp22.12
uncertain significance
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) microsatellite Pyruvate dehydrogenase E1-alpha deficiency [RCV001269298] ChrX:19359512..19359513 [GRCh38]
ChrX:19377630..19377631 [GRCh37]
ChrX:Xp22.12
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn) single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV001279594] ChrX:19355484 [GRCh38]
ChrX:19373602 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser) single nucleotide variant Pyruvate dehydrogenase complex deficiency [RCV001279595] ChrX:19359622 [GRCh38]
ChrX:19377740 [GRCh37]
ChrX:Xp22.12
uncertain significance
NM_000284.4(PDHA1):c.899+2T>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001329773] ChrX:19357721 [GRCh38]
ChrX:19375839 [GRCh37]
ChrX:Xp22.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8806 AgrOrtholog
COSMIC PDHA1 COSMIC
Ensembl Genes ENSG00000131828 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000348062 UniProtKB/TrEMBL
  ENSP00000369132 UniProtKB/TrEMBL
  ENSP00000369133 UniProtKB/TrEMBL
  ENSP00000369134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404616 UniProtKB/TrEMBL
  ENSP00000406473 UniProtKB/TrEMBL
  ENSP00000438550 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000440761 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355808 UniProtKB/TrEMBL
  ENST00000379804 UniProtKB/TrEMBL
  ENST00000379805 UniProtKB/TrEMBL
  ENST00000379806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000417819 UniProtKB/TrEMBL
  ENST00000422285 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423505 UniProtKB/TrEMBL
  ENST00000540249 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545074 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000131828 GTEx
HGNC ID HGNC:8806 ENTREZGENE
Human Proteome Map PDHA1 Human Proteome Map
InterPro DH_E1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyrv_DH_E1_asu_subgrp-y UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THDP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5160 ENTREZGENE
OMIM 300502 OMIM
  312170 OMIM
Pfam E1_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33150 PharmGKB
Superfamily-SCOP SSF52518 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs PDH_E1_alph_y UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBX9 ENTREZGENE, UniProtKB/TrEMBL
  A5YPB6_HUMAN UniProtKB/TrEMBL
  ODPA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78557_HUMAN UniProtKB/TrEMBL
  Q5JPT9_HUMAN UniProtKB/TrEMBL
  Q5JPU0_HUMAN UniProtKB/TrEMBL
  Q5JPU1_HUMAN UniProtKB/TrEMBL
  Q5JPU2_HUMAN UniProtKB/TrEMBL
  Q5JPU3_HUMAN UniProtKB/TrEMBL
  Q6LCA3_HUMAN UniProtKB/TrEMBL
  Q99724_HUMAN UniProtKB/TrEMBL
  Q99725_HUMAN UniProtKB/TrEMBL
  Q9UNV7_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5YVE9 UniProtKB/Swiss-Prot
  B2R5P7 UniProtKB/Swiss-Prot
  B7Z3T7 UniProtKB/Swiss-Prot
  B7Z3X5 UniProtKB/Swiss-Prot
  Q53H41 UniProtKB/Swiss-Prot
  Q5JPT8 UniProtKB/Swiss-Prot
  Q9NP12 UniProtKB/Swiss-Prot
  Q9UBJ8 UniProtKB/Swiss-Prot
  Q9UBU0 UniProtKB/Swiss-Prot
  Q9UNG4 UniProtKB/Swiss-Prot
  Q9UNG5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 PDHA1  pyruvate dehydrogenase E1 subunit alpha 1  PDHA1  pyruvate dehydrogenase E1 alpha 1 subunit  Symbol and/or name change 5135510 APPROVED
2017-08-15 PDHA1  pyruvate dehydrogenase E1 alpha 1 subunit    pyruvate dehydrogenase alpha 1  Symbol and/or name change 5135510 APPROVED
2017-05-30 PDHA1  pyruvate dehydrogenase alpha 1    pyruvate dehydrogenase (lipoamide) alpha 1  Symbol and/or name change 5135510 APPROVED