IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha) - Rat Genome Database

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Gene: IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha) Homo sapiens
Analyze
Symbol: IDH3A
Name: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
RGD ID: 733177
HGNC Page HGNC:5384
Description: Enables isocitrate dehydrogenase (NAD+) activity and magnesium ion binding activity. Involved in tricarboxylic acid cycle. Located in mitochondrion. Part of isocitrate dehydrogenase complex (NAD+). Implicated in retinitis pigmentosa 90.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: H-IDH alpha; isocitrate dehydrogenase (NAD(+)) 3 alpha; isocitrate dehydrogenase (NAD+) alpha chain; isocitrate dehydrogenase 3 (NAD(+)) alpha; isocitrate dehydrogenase 3 (NAD+) alpha; isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial; isocitric dehydrogenase subunit alpha; NAD(+)-specific ICDH subunit alpha; NAD(H)-specific isocitrate dehydrogenase alpha subunit; NAD+-specific ICDH; RP90
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,149,362 - 78,171,945 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,131,498 - 78,171,945 (+)EnsemblGRCh38hg38GRCh38
GRCh371578,441,704 - 78,464,287 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,228,774 - 76,249,939 (+)NCBINCBI36Build 36hg18NCBI36
Build 341576,228,773 - 76,249,938NCBI
Celera1555,378,247 - 55,399,414 (+)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,199,257 - 55,220,449 (+)NCBIHuRef
CHM1_11578,559,625 - 78,580,790 (+)NCBICHM1_1
T2T-CHM13v2.01576,011,920 - 76,034,530 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-artemisinin  (EXP)
(+)-dexrazoxane  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
apigenin  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
berberine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bleomycin A5  (EXP)
bortezomib  (EXP)
Brodifacoum  (ISO)
Butylbenzyl phthalate  (ISO)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlormidazole  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
cypermethrin  (ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
fluoxastrobin  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
inulin  (ISO)
ivermectin  (EXP)
lamivudine  (ISO)
lead(0)  (EXP)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
microcystin RR  (EXP)
mitoxantrone  (EXP,ISO)
nickel atom  (EXP)
Nutlin-3  (EXP)
oxidopamine  (EXP)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorododecanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
Propiverine  (ISO)
pyridaben  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
sulforaphane  (ISO)
T-2 toxin  (ISO)
tebufenpyrad  (EXP)
testosterone  (ISO)
thapsigargin  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (EXP,ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trifloxystrobin  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (ISO)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:4336621   PMID:7755589   PMID:8125298   PMID:8833160   PMID:10601238   PMID:10677231   PMID:12477932   PMID:12488461   PMID:12543931   PMID:12601813   PMID:14555658   PMID:14702039  
PMID:15489334   PMID:16236267   PMID:16737955   PMID:17314511   PMID:17432878   PMID:18029348   PMID:18457437   PMID:19615732   PMID:20306291   PMID:20562859   PMID:20811636   PMID:20877624  
PMID:21630459   PMID:21654808   PMID:21873635   PMID:21988832   PMID:22190034   PMID:22939629   PMID:23125841   PMID:23798571   PMID:24711643   PMID:24797263   PMID:24981860   PMID:25147182  
PMID:25531325   PMID:26186194   PMID:26344197   PMID:26618866   PMID:27637333   PMID:28098230   PMID:28302793   PMID:28380382   PMID:28514442   PMID:28712289   PMID:29128334   PMID:29509190  
PMID:29568061   PMID:29791485   PMID:30442662   PMID:30463901   PMID:30613765   PMID:30884312   PMID:30948266   PMID:31012789   PMID:31056398   PMID:31091453   PMID:31515270   PMID:31536960  
PMID:31586073   PMID:31617661   PMID:32513696   PMID:32614325   PMID:32628020   PMID:32687490   PMID:32877691   PMID:33022573   PMID:33239621   PMID:33349631   PMID:33742100   PMID:33961781  
PMID:34133714   PMID:34269949   PMID:34349018   PMID:34709727   PMID:34800366   PMID:35235311   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35463978   PMID:35509820  
PMID:35545034   PMID:35563538   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36538041   PMID:37071682   PMID:37120454   PMID:37223481   PMID:37827155   PMID:39147351  


Genomics

Comparative Map Data
IDH3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381578,149,362 - 78,171,945 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1578,131,498 - 78,171,945 (+)EnsemblGRCh38hg38GRCh38
GRCh371578,441,704 - 78,464,287 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361576,228,774 - 76,249,939 (+)NCBINCBI36Build 36hg18NCBI36
Build 341576,228,773 - 76,249,938NCBI
Celera1555,378,247 - 55,399,414 (+)NCBICelera
Cytogenetic Map15q25.1NCBI
HuRef1555,199,257 - 55,220,449 (+)NCBIHuRef
CHM1_11578,559,625 - 78,580,790 (+)NCBICHM1_1
T2T-CHM13v2.01576,011,920 - 76,034,530 (+)NCBIT2T-CHM13v2.0
Idh3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39954,493,795 - 54,511,946 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl954,493,618 - 54,511,945 (+)EnsemblGRCm39 Ensembl
GRCm38954,586,511 - 54,604,662 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl954,586,334 - 54,604,661 (+)EnsemblGRCm38mm10GRCm38
MGSCv37954,434,318 - 54,452,469 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36954,384,648 - 54,402,799 (+)NCBIMGSCv36mm8
Celera951,829,728 - 51,847,959 (+)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map929.7NCBI
Idh3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8863,867,882 - 63,887,223 (+)NCBIGRCr8
mRatBN7.2854,971,694 - 54,991,085 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl854,971,740 - 54,991,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx860,505,281 - 60,524,691 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0858,784,271 - 58,803,675 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0856,648,509 - 56,667,913 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0859,164,601 - 59,183,899 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl859,164,572 - 59,183,908 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0857,745,463 - 57,764,761 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4858,135,412 - 58,156,019 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1858,154,465 - 58,175,073 (+)NCBI
Celera854,460,353 - 54,479,655 (+)NCBICelera
Cytogenetic Map8q24NCBI
Idh3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955450685,905 - 703,586 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955450685,905 - 703,593 (+)NCBIChiLan1.0ChiLan1.0
IDH3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21667,362,996 - 67,384,370 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11571,528,667 - 71,550,063 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01557,078,588 - 57,099,934 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11576,043,311 - 76,064,634 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1576,043,311 - 76,064,634 (+)Ensemblpanpan1.1panPan2
IDH3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1358,301,982 - 58,318,925 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl358,302,001 - 58,318,248 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha360,993,181 - 61,010,332 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0358,769,639 - 58,786,830 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl358,748,159 - 58,786,830 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1358,266,135 - 58,283,304 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0358,474,154 - 58,491,092 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,823,194 - 58,840,363 (+)NCBIUU_Cfam_GSD_1.0
Idh3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640118,974,940 - 118,994,520 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647136,822,971 - 36,842,610 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647136,823,003 - 36,842,576 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDH3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl747,759,439 - 47,778,956 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1747,759,436 - 47,778,948 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2753,312,283 - 53,330,719 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IDH3A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1265,183,470 - 5,205,385 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl265,184,991 - 5,205,384 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048136,598,251 - 136,620,304 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Idh3a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248942,662,434 - 2,679,232 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248942,661,509 - 2,679,071 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IDH3A
252 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3 copy number gain See cases [RCV000050915] Chr15:77640317..78459174 [GRCh38]
Chr15:77932659..78751516 [GRCh37]
Chr15:75719714..76538571 [NCBI36]
Chr15:15q24.3-25.1		 uncertain significance
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 copy number loss See cases [RCV000137079] Chr15:76006154..79982417 [GRCh38]
Chr15:76298495..80274759 [GRCh37]
Chr15:74085550..78061814 [NCBI36]
Chr15:15q24.2-25.1		 pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_005530.3(IDH3A):c.670G>T (p.Asp224Tyr) single nucleotide variant not provided [RCV000513311] Chr15:78163565 [GRCh38]
Chr15:78455907 [GRCh37]
Chr15:15q25.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3 copy number gain not provided [RCV000683711] Chr15:78193071..78767884 [GRCh37]
Chr15:15q24.3-25.1		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) single nucleotide variant Retinitis pigmentosa 90 [RCV001255141]|Retinitis pigmentosa [RCV001003050]|not provided [RCV001862722] Chr15:78166196 [GRCh38]
Chr15:78458538 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_005530.3(IDH3A):c.27+114T>G single nucleotide variant not provided [RCV001609222] Chr15:78149544 [GRCh38]
Chr15:78441886 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.274A>C (p.Lys92Gln) single nucleotide variant not provided [RCV001069485] Chr15:78160191 [GRCh38]
Chr15:78452533 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.263T>C (p.Met88Thr) single nucleotide variant not provided [RCV001034935] Chr15:78160180 [GRCh38]
Chr15:78452522 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.530A>G (p.Lys177Arg) single nucleotide variant not provided [RCV000978453] Chr15:78162286 [GRCh38]
Chr15:78454628 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.990G>A (p.Ala330=) single nucleotide variant IDH3A-related disorder [RCV003972976]|not provided [RCV000978454] Chr15:78166275 [GRCh38]
Chr15:78458617 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_005530.3(IDH3A):c.417T>A (p.Asp139Glu) single nucleotide variant IDH3A-related disorder [RCV003940725]|not provided [RCV000892842] Chr15:78161708 [GRCh38]
Chr15:78454050 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_005530.3(IDH3A):c.175-7C>T single nucleotide variant not provided [RCV001241921] Chr15:78160085 [GRCh38]
Chr15:78452427 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.1003A>G (p.Ile335Val) single nucleotide variant not provided [RCV001233391] Chr15:78166288 [GRCh38]
Chr15:78458630 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.13G>T (p.Ala5Ser) single nucleotide variant not provided [RCV001241561]|not specified [RCV004034686] Chr15:78149416 [GRCh38]
Chr15:78441758 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.519G>A (p.Glu173=) single nucleotide variant not provided [RCV001226566] Chr15:78162275 [GRCh38]
Chr15:78454617 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.651A>C (p.Glu217Asp) single nucleotide variant not provided [RCV001238741]|not specified [RCV004034586] Chr15:78163546 [GRCh38]
Chr15:78455888 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.169G>C (p.Ala57Pro) single nucleotide variant not provided [RCV001212364] Chr15:78157626 [GRCh38]
Chr15:78449968 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.175-190T>C single nucleotide variant not provided [RCV001688301] Chr15:78159902 [GRCh38]
Chr15:78452244 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.989C>T (p.Ala330Val) single nucleotide variant not provided [RCV001889185] Chr15:78166274 [GRCh38]
Chr15:78458616 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.378A>G (p.Pro126=) single nucleotide variant not provided [RCV001208829] Chr15:78161669 [GRCh38]
Chr15:78454011 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV001205961]|not specified [RCV004033662] Chr15:78162346 [GRCh38]
Chr15:78454688 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1017+153C>T single nucleotide variant not provided [RCV001689258] Chr15:78166455 [GRCh38]
Chr15:78458797 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.611+86T>C single nucleotide variant not provided [RCV001636248] Chr15:78162453 [GRCh38]
Chr15:78454795 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.780-92A>G single nucleotide variant not provided [RCV001686305] Chr15:78164900 [GRCh38]
Chr15:78457242 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.864+130dup duplication not provided [RCV001620231] Chr15:78165195..78165196 [GRCh38]
Chr15:78457537..78457538 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.175-138C>T single nucleotide variant not provided [RCV001710198] Chr15:78159954 [GRCh38]
Chr15:78452296 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.611+196del deletion not provided [RCV001613930] Chr15:78162546 [GRCh38]
Chr15:78454888 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) single nucleotide variant Retinitis pigmentosa 90 [RCV001255142]|Retinitis pigmentosa [RCV001003051]|not provided [RCV001498042] Chr15:78166223 [GRCh38]
Chr15:78458565 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_005530.3(IDH3A):c.90+173C>G single nucleotide variant not provided [RCV001695348] Chr15:78155448 [GRCh38]
Chr15:78447790 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.289+174T>C single nucleotide variant not provided [RCV001610997] Chr15:78160380 [GRCh38]
Chr15:78452722 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.*110A>G single nucleotide variant not provided [RCV001614895] Chr15:78169115 [GRCh38]
Chr15:78461457 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.864+118G>C single nucleotide variant not provided [RCV001679424] Chr15:78165194 [GRCh38]
Chr15:78457536 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.197G>A (p.Arg66Gln) single nucleotide variant not provided [RCV001035030] Chr15:78160114 [GRCh38]
Chr15:78452456 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1010A>T (p.Asp337Val) single nucleotide variant not provided [RCV001230254] Chr15:78166295 [GRCh38]
Chr15:78458637 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.467T>C (p.Ile156Thr) single nucleotide variant not provided [RCV001214295] Chr15:78161758 [GRCh38]
Chr15:78454100 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.403del (p.Thr135fs) deletion Retinitis pigmentosa 90 [RCV001255144]|not provided [RCV001879930] Chr15:78161691 [GRCh38]
Chr15:78454033 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.524C>T (p.Ala175Val) single nucleotide variant Retinitis pigmentosa 90 [RCV001255145] Chr15:78162280 [GRCh38]
Chr15:78454622 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.946C>T (p.Arg316Cys) single nucleotide variant Retinitis pigmentosa 90 [RCV001255147]|not provided [RCV001378483] Chr15:78166231 [GRCh38]
Chr15:78458573 [GRCh37]
Chr15:15q25.1		 pathogenic|likely pathogenic
NM_005530.3(IDH3A):c.463G>T (p.Gly155Ter) single nucleotide variant Retinitis pigmentosa 90 [RCV001255146]|not provided [RCV002570583] Chr15:78161754 [GRCh38]
Chr15:78454096 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.582C>G (p.Asn194Lys) single nucleotide variant not provided [RCV001350003] Chr15:78162338 [GRCh38]
Chr15:78454680 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.716T>C (p.Met239Thr) single nucleotide variant Retinitis pigmentosa 90 [RCV001255143] Chr15:78163717 [GRCh38]
Chr15:78456059 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.612G>A (p.Met204Ile) single nucleotide variant Retinitis pigmentosa 90 [RCV001255148] Chr15:78163507 [GRCh38]
Chr15:78455849 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.364G>A (p.Ala122Thr) single nucleotide variant Retinitis pigmentosa 90 [RCV001255149]|not provided [RCV001879931] Chr15:78161655 [GRCh38]
Chr15:78453997 [GRCh37]
Chr15:15q25.1		 pathogenic|uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_005530.3(IDH3A):c.962T>C (p.Phe321Ser) single nucleotide variant not provided [RCV001295920]|not specified [RCV004036017] Chr15:78166247 [GRCh38]
Chr15:78458589 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.611+14G>A single nucleotide variant not provided [RCV001300568] Chr15:78162381 [GRCh38]
Chr15:78454723 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.185A>T (p.Gln62Leu) single nucleotide variant not provided [RCV001351156] Chr15:78160102 [GRCh38]
Chr15:78452444 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.821C>T (p.Pro274Leu) single nucleotide variant not provided [RCV001341021] Chr15:78165033 [GRCh38]
Chr15:78457375 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.550T>C (p.Phe184Leu) single nucleotide variant not provided [RCV001309978] Chr15:78162306 [GRCh38]
Chr15:78454648 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.844G>A (p.Gly282Arg) single nucleotide variant not provided [RCV001303398] Chr15:78165056 [GRCh38]
Chr15:78457398 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.12C>G (p.Pro4=) single nucleotide variant not provided [RCV001423104] Chr15:78149415 [GRCh38]
Chr15:78441757 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.947G>A (p.Arg316His) single nucleotide variant not provided [RCV001345664] Chr15:78166232 [GRCh38]
Chr15:78458574 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.427G>A (p.Val143Met) single nucleotide variant not provided [RCV001339780] Chr15:78161718 [GRCh38]
Chr15:78454060 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1079G>A (p.Arg360His) single nucleotide variant not provided [RCV001344775] Chr15:78168983 [GRCh38]
Chr15:78461325 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.365C>T (p.Ala122Val) single nucleotide variant not provided [RCV001364927] Chr15:78161656 [GRCh38]
Chr15:78453998 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.982G>A (p.Glu328Lys) single nucleotide variant not provided [RCV001342383] Chr15:78166267 [GRCh38]
Chr15:78458609 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.853A>G (p.Ile285Val) single nucleotide variant not provided [RCV001297457] Chr15:78165065 [GRCh38]
Chr15:78457407 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.587C>T (p.Thr196Met) single nucleotide variant not provided [RCV001325834]|not specified [RCV004035180] Chr15:78162343 [GRCh38]
Chr15:78454685 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.329T>C (p.Met110Thr) single nucleotide variant not provided [RCV001327768] Chr15:78161620 [GRCh38]
Chr15:78453962 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001317245] Chr15:78149405 [GRCh38]
Chr15:78441747 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.562C>T (p.Arg188Trp) single nucleotide variant not provided [RCV001321278]|not specified [RCV004035029] Chr15:78162318 [GRCh38]
Chr15:78454660 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.215A>C (p.Gln72Pro) single nucleotide variant not provided [RCV001364349] Chr15:78160132 [GRCh38]
Chr15:78452474 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.91G>T (p.Val31Phe) single nucleotide variant not provided [RCV001306938] Chr15:78157548 [GRCh38]
Chr15:78449890 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.533G>A (p.Arg178His) single nucleotide variant not provided [RCV001300338] Chr15:78162289 [GRCh38]
Chr15:78454631 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.886A>G (p.Ile296Val) single nucleotide variant not provided [RCV001316276] Chr15:78166171 [GRCh38]
Chr15:78458513 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.156G>T (p.Lys52Asn) single nucleotide variant not provided [RCV001304256] Chr15:78157613 [GRCh38]
Chr15:78449955 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.865-10C>T single nucleotide variant not provided [RCV001513984] Chr15:78166140 [GRCh38]
Chr15:78458482 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.801C>T (p.Ile267=) single nucleotide variant not provided [RCV001469836] Chr15:78165013 [GRCh38]
Chr15:78457355 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.588G>T (p.Thr196=) single nucleotide variant not provided [RCV001399477] Chr15:78162344 [GRCh38]
Chr15:78454686 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.715-1G>C single nucleotide variant not provided [RCV001378233] Chr15:78163715 [GRCh38]
Chr15:78456057 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.315C>A (p.Ala105=) single nucleotide variant not provided [RCV001484919] Chr15:78161606 [GRCh38]
Chr15:78453948 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.865-7_865-6inv inversion not provided [RCV001480235] Chr15:78166143..78166144 [GRCh38]
Chr15:78458485..78458486 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.90+12_90+14del deletion not provided [RCV001401132] Chr15:78155285..78155287 [GRCh38]
Chr15:78447627..78447629 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.120T>C (p.Asp40=) single nucleotide variant not provided [RCV001415941] Chr15:78157577 [GRCh38]
Chr15:78449919 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.444C>T (p.Asn148=) single nucleotide variant not provided [RCV001489550] Chr15:78161735 [GRCh38]
Chr15:78454077 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.918C>T (p.Ala306=) single nucleotide variant not provided [RCV001415731] Chr15:78166203 [GRCh38]
Chr15:78458545 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.714+1G>A single nucleotide variant not provided [RCV001378219] Chr15:78163610 [GRCh38]
Chr15:78455952 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.46del (p.Ala16fs) deletion not provided [RCV001380639] Chr15:78155227 [GRCh38]
Chr15:78447569 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.810C>T (p.Leu270=) single nucleotide variant not provided [RCV001402590] Chr15:78165022 [GRCh38]
Chr15:78457364 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.390C>T (p.Ile130=) single nucleotide variant not provided [RCV001432136] Chr15:78161681 [GRCh38]
Chr15:78454023 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.369T>C (p.Asn123=) single nucleotide variant not provided [RCV001432196] Chr15:78161660 [GRCh38]
Chr15:78454002 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.900C>T (p.Asp300=) single nucleotide variant IDH3A-related disorder [RCV003938743]|not provided [RCV001430062] Chr15:78166185 [GRCh38]
Chr15:78458527 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.582C>T (p.Asn194=) single nucleotide variant not provided [RCV001495895] Chr15:78162338 [GRCh38]
Chr15:78454680 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1078C>T (p.Arg360Cys) single nucleotide variant IDH3A-related disorder [RCV003980421]|not provided [RCV001486138] Chr15:78168982 [GRCh38]
Chr15:78461324 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.414C>T (p.Thr138=) single nucleotide variant not provided [RCV001451193] Chr15:78161705 [GRCh38]
Chr15:78454047 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1032T>C (p.Asp344=) single nucleotide variant IDH3A-related disorder [RCV003908834]|not provided [RCV001515975] Chr15:78168936 [GRCh38]
Chr15:78461278 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.780-6C>T single nucleotide variant IDH3A-related disorder [RCV003965962]|not provided [RCV001477280] Chr15:78164986 [GRCh38]
Chr15:78457328 [GRCh37]
Chr15:15q25.1		 likely benign
NC_000015.10:g.78149232C>G single nucleotide variant not provided [RCV001671949] Chr15:78149232 [GRCh38]
Chr15:78441574 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.91-142G>C single nucleotide variant not provided [RCV001609482] Chr15:78157406 [GRCh38]
Chr15:78449748 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.714+19_714+22del deletion not provided [RCV001456282] Chr15:78163626..78163629 [GRCh38]
Chr15:78455968..78455971 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.780-5G>A single nucleotide variant not provided [RCV001481595] Chr15:78164987 [GRCh38]
Chr15:78457329 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.201C>T (p.Asn67=) single nucleotide variant not provided [RCV001465527] Chr15:78160118 [GRCh38]
Chr15:78452460 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1047A>G (p.Ala349=) single nucleotide variant not provided [RCV001491235] Chr15:78168951 [GRCh38]
Chr15:78461293 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.609C>T (p.Ile203=) single nucleotide variant not provided [RCV001476250] Chr15:78162365 [GRCh38]
Chr15:78454707 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1026A>G (p.Thr342=) single nucleotide variant not provided [RCV001515120] Chr15:78168930 [GRCh38]
Chr15:78461272 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.906G>A (p.Ala302=) single nucleotide variant not provided [RCV001423465] Chr15:78166191 [GRCh38]
Chr15:78458533 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1011C>T (p.Asp337=) single nucleotide variant IDH3A-related disorder [RCV003921081]|not provided [RCV001511637] Chr15:78166296 [GRCh38]
Chr15:78458638 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.387T>C (p.Ser129=) single nucleotide variant not provided [RCV001418646] Chr15:78161678 [GRCh38]
Chr15:78454020 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV001488989] Chr15:78162347 [GRCh38]
Chr15:78454689 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.843T>C (p.Asn281=) single nucleotide variant not provided [RCV001466861] Chr15:78165055 [GRCh38]
Chr15:78457397 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.864+8C>T single nucleotide variant not provided [RCV001520038] Chr15:78165084 [GRCh38]
Chr15:78457426 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.24T>C (p.Ser8=) single nucleotide variant not provided [RCV001520087] Chr15:78149427 [GRCh38]
Chr15:78441769 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.865-7T>C single nucleotide variant not provided [RCV001520088] Chr15:78166143 [GRCh38]
Chr15:78458485 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.8G>T (p.Gly3Val) single nucleotide variant not provided [RCV001894921] Chr15:78149411 [GRCh38]
Chr15:78441753 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.612-3C>T single nucleotide variant not provided [RCV001914388] Chr15:78163504 [GRCh38]
Chr15:78455846 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.415G>A (p.Asp139Asn) single nucleotide variant not provided [RCV001926887] Chr15:78161706 [GRCh38]
Chr15:78454048 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.27+2T>C single nucleotide variant not provided [RCV001968764] Chr15:78149432 [GRCh38]
Chr15:78441774 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.268A>G (p.Lys90Glu) single nucleotide variant not provided [RCV001927259] Chr15:78160185 [GRCh38]
Chr15:78452527 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.893G>A (p.Gly298Asp) single nucleotide variant not provided [RCV001909870] Chr15:78166178 [GRCh38]
Chr15:78458520 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.211A>T (p.Ile71Phe) single nucleotide variant not provided [RCV001966483] Chr15:78160128 [GRCh38]
Chr15:78452470 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1082G>A (p.Arg361Gln) single nucleotide variant not provided [RCV002005941]|not specified [RCV004043255] Chr15:78168986 [GRCh38]
Chr15:78461328 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.802G>A (p.Gly268Arg) single nucleotide variant not provided [RCV001892661] Chr15:78165014 [GRCh38]
Chr15:78457356 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.665G>C (p.Cys222Ser) single nucleotide variant not provided [RCV001984254] Chr15:78163560 [GRCh38]
Chr15:78455902 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.568A>C (p.Asn190His) single nucleotide variant not provided [RCV002043757] Chr15:78162324 [GRCh38]
Chr15:78454666 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.876G>A (p.Thr292=) single nucleotide variant not provided [RCV002042623] Chr15:78166161 [GRCh38]
Chr15:78458503 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.779+1G>A single nucleotide variant not provided [RCV002022109] Chr15:78163781 [GRCh38]
Chr15:78456123 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.937A>C (p.Met313Leu) single nucleotide variant Retinitis pigmentosa 90 [RCV002226794]|not provided [RCV001985709]|not specified [RCV004044468] Chr15:78166222 [GRCh38]
Chr15:78458564 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.493G>A (p.Val165Met) single nucleotide variant not provided [RCV002041543] Chr15:78162249 [GRCh38]
Chr15:78454591 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.289+3A>G single nucleotide variant not provided [RCV002041766] Chr15:78160209 [GRCh38]
Chr15:78452551 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1081C>T (p.Arg361Ter) single nucleotide variant not provided [RCV001944791] Chr15:78168985 [GRCh38]
Chr15:78461327 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.17G>A (p.Trp6Ter) single nucleotide variant not provided [RCV001996579] Chr15:78149420 [GRCh38]
Chr15:78441762 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.842A>G (p.Asn281Ser) single nucleotide variant not provided [RCV001883384] Chr15:78165054 [GRCh38]
Chr15:78457396 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.290-4A>G single nucleotide variant not provided [RCV002029812] Chr15:78161577 [GRCh38]
Chr15:78453919 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.91-5T>C single nucleotide variant not provided [RCV001976851] Chr15:78157543 [GRCh38]
Chr15:78449885 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.901A>G (p.Met301Val) single nucleotide variant not provided [RCV001903264] Chr15:78166186 [GRCh38]
Chr15:78458528 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.379T>C (p.Cys127Arg) single nucleotide variant not provided [RCV002047225] Chr15:78161670 [GRCh38]
Chr15:78454012 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.497A>G (p.Gln166Arg) single nucleotide variant not provided [RCV002013599] Chr15:78162253 [GRCh38]
Chr15:78454595 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.742G>A (p.Val248Ile) single nucleotide variant not provided [RCV002030006] Chr15:78163743 [GRCh38]
Chr15:78456085 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.311C>T (p.Ala104Val) single nucleotide variant not provided [RCV001934408] Chr15:78161602 [GRCh38]
Chr15:78453944 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.91-18A>G single nucleotide variant not provided [RCV001875629] Chr15:78157530 [GRCh38]
Chr15:78449872 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.799A>C (p.Ile267Leu) single nucleotide variant not provided [RCV002047737] Chr15:78165011 [GRCh38]
Chr15:78457353 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.864+6G>A single nucleotide variant not provided [RCV001936209] Chr15:78165082 [GRCh38]
Chr15:78457424 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.864G>A (p.Ser288=) single nucleotide variant not provided [RCV001934634] Chr15:78165076 [GRCh38]
Chr15:78457418 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.27+8_27+9delinsGG indel not provided [RCV001878489] Chr15:78149438..78149439 [GRCh38]
Chr15:78441780..78441781 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.35G>A (p.Arg12Gln) single nucleotide variant not provided [RCV001881196] Chr15:78155220 [GRCh38]
Chr15:78447562 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1048A>G (p.Lys350Glu) single nucleotide variant not provided [RCV001980590] Chr15:78168952 [GRCh38]
Chr15:78461294 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.586A>G (p.Thr196Ala) single nucleotide variant not provided [RCV001956728] Chr15:78162342 [GRCh38]
Chr15:78454684 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.881C>T (p.Pro294Leu) single nucleotide variant not provided [RCV001990267] Chr15:78166166 [GRCh38]
Chr15:78458508 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.26A>G (p.Lys9Arg) single nucleotide variant not provided [RCV002050052]|not specified [RCV004038735] Chr15:78149429 [GRCh38]
Chr15:78441771 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.575G>A (p.Arg192Gln) single nucleotide variant not provided [RCV001961189] Chr15:78162331 [GRCh38]
Chr15:78454673 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.142G>C (p.Ala48Pro) single nucleotide variant not provided [RCV001924589] Chr15:78157599 [GRCh38]
Chr15:78449941 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.35G>C (p.Arg12Pro) single nucleotide variant not provided [RCV001960774] Chr15:78155220 [GRCh38]
Chr15:78447562 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.875C>T (p.Thr292Met) single nucleotide variant not provided [RCV001900741] Chr15:78166160 [GRCh38]
Chr15:78458502 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.583G>A (p.Val195Ile) single nucleotide variant not provided [RCV002049792] Chr15:78162339 [GRCh38]
Chr15:78454681 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.106T>G (p.Leu36Val) single nucleotide variant not provided [RCV001978011] Chr15:78157563 [GRCh38]
Chr15:78449905 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.27+5G>A single nucleotide variant not provided [RCV002049144] Chr15:78149435 [GRCh38]
Chr15:78441777 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.934G>A (p.Val312Met) single nucleotide variant not provided [RCV001883152]|not specified [RCV004040625] Chr15:78166219 [GRCh38]
Chr15:78458561 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.612-4A>G single nucleotide variant not provided [RCV002208304] Chr15:78163503 [GRCh38]
Chr15:78455845 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.611+16G>A single nucleotide variant not provided [RCV002192337] Chr15:78162383 [GRCh38]
Chr15:78454725 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.303C>A (p.Thr101=) single nucleotide variant not provided [RCV002205796] Chr15:78161594 [GRCh38]
Chr15:78453936 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.21C>T (p.Ile7=) single nucleotide variant not provided [RCV002145746] Chr15:78149424 [GRCh38]
Chr15:78441766 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.999T>C (p.Ala333=) single nucleotide variant not provided [RCV002086859] Chr15:78166284 [GRCh38]
Chr15:78458626 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.865-12C>T single nucleotide variant not provided [RCV002084958] Chr15:78166138 [GRCh38]
Chr15:78458480 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.28-10A>G single nucleotide variant not provided [RCV002075740] Chr15:78155203 [GRCh38]
Chr15:78447545 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.777T>C (p.Leu259=) single nucleotide variant not provided [RCV002209030] Chr15:78163778 [GRCh38]
Chr15:78456120 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.315C>T (p.Ala105=) single nucleotide variant not provided [RCV002187419] Chr15:78161606 [GRCh38]
Chr15:78453948 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.786G>A (p.Leu262=) single nucleotide variant not provided [RCV002188624] Chr15:78164998 [GRCh38]
Chr15:78457340 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.714+18C>T single nucleotide variant not provided [RCV002192465] Chr15:78163627 [GRCh38]
Chr15:78455969 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+19_27+41dup duplication not provided [RCV002129576] Chr15:78149439..78149440 [GRCh38]
Chr15:78441781..78441782 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.91-18A>C single nucleotide variant not provided [RCV002148337] Chr15:78157530 [GRCh38]
Chr15:78449872 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.28-4A>G single nucleotide variant not provided [RCV002124895] Chr15:78155209 [GRCh38]
Chr15:78447551 [GRCh37]
Chr15:15q25.1		 benign
NM_005530.3(IDH3A):c.573C>T (p.His191=) single nucleotide variant not provided [RCV002079697] Chr15:78162329 [GRCh38]
Chr15:78454671 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.289+20G>A single nucleotide variant not provided [RCV002174451] Chr15:78160226 [GRCh38]
Chr15:78452568 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.363C>T (p.Tyr121=) single nucleotide variant not provided [RCV002131493] Chr15:78161654 [GRCh38]
Chr15:78453996 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.574C>A (p.Arg192=) single nucleotide variant IDH3A-related disorder [RCV003978695]|not provided [RCV002115663] Chr15:78162330 [GRCh38]
Chr15:78454672 [GRCh37]
Chr15:15q25.1		 benign|likely benign
NM_005530.3(IDH3A):c.865-5T>C single nucleotide variant not provided [RCV002079328] Chr15:78166145 [GRCh38]
Chr15:78458487 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.90+14T>C single nucleotide variant not provided [RCV002194465] Chr15:78155289 [GRCh38]
Chr15:78447631 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.588G>A (p.Thr196=) single nucleotide variant not provided [RCV002216126] Chr15:78162344 [GRCh38]
Chr15:78454686 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.289+19C>T single nucleotide variant not provided [RCV002171499] Chr15:78160225 [GRCh38]
Chr15:78452567 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.289+16A>G single nucleotide variant not provided [RCV002151851] Chr15:78160222 [GRCh38]
Chr15:78452564 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.478-10T>C single nucleotide variant not provided [RCV002126891] Chr15:78162224 [GRCh38]
Chr15:78454566 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.576G>C (p.Arg192=) single nucleotide variant not provided [RCV002212330] Chr15:78162332 [GRCh38]
Chr15:78454674 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.924G>T (p.Leu308=) single nucleotide variant not provided [RCV002196431] Chr15:78166209 [GRCh38]
Chr15:78458551 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.611+7T>C single nucleotide variant not provided [RCV002093476] Chr15:78162374 [GRCh38]
Chr15:78454716 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.865-9G>A single nucleotide variant not provided [RCV002157802] Chr15:78166141 [GRCh38]
Chr15:78458483 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+14G>T single nucleotide variant not provided [RCV002141119] Chr15:78149444 [GRCh38]
Chr15:78441786 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.715-13G>A single nucleotide variant not provided [RCV002203715] Chr15:78163703 [GRCh38]
Chr15:78456045 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.290-14C>T single nucleotide variant not provided [RCV002137735] Chr15:78161567 [GRCh38]
Chr15:78453909 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.779+7C>G single nucleotide variant not provided [RCV002204623] Chr15:78163787 [GRCh38]
Chr15:78456129 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.28-5T>C single nucleotide variant not provided [RCV002216399] Chr15:78155208 [GRCh38]
Chr15:78447550 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.186G>A (p.Gln62=) single nucleotide variant not provided [RCV002198060] Chr15:78160103 [GRCh38]
Chr15:78452445 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.882A>G (p.Pro294=) single nucleotide variant not provided [RCV002161701] Chr15:78166167 [GRCh38]
Chr15:78458509 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.477+18T>G single nucleotide variant not provided [RCV002141160] Chr15:78161786 [GRCh38]
Chr15:78454128 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.945G>C (p.Leu315=) single nucleotide variant not provided [RCV002162344] Chr15:78166230 [GRCh38]
Chr15:78458572 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.477+16A>T single nucleotide variant not provided [RCV002140547] Chr15:78161784 [GRCh38]
Chr15:78454126 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+9_27+31dup duplication not provided [RCV002179685] Chr15:78149436..78149437 [GRCh38]
Chr15:78441778..78441779 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.525G>A (p.Ala175=) single nucleotide variant not provided [RCV002102301] Chr15:78162281 [GRCh38]
Chr15:78454623 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.90+11T>C single nucleotide variant not provided [RCV002204011] Chr15:78155286 [GRCh38]
Chr15:78447628 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.612-12G>A single nucleotide variant not provided [RCV002082489] Chr15:78163495 [GRCh38]
Chr15:78455837 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.865-15T>C single nucleotide variant not provided [RCV002184233] Chr15:78166135 [GRCh38]
Chr15:78458477 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.549C>T (p.Ala183=) single nucleotide variant not provided [RCV002124160] Chr15:78162305 [GRCh38]
Chr15:78454647 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.339G>A (p.Leu113=) single nucleotide variant not provided [RCV002159190] Chr15:78161630 [GRCh38]
Chr15:78453972 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.805G>A (p.Gly269Ser) single nucleotide variant Retinitis pigmentosa 90 [RCV002466861] Chr15:78165017 [GRCh38]
Chr15:78457359 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.316G>A (p.Gly106Ser) single nucleotide variant not provided [RCV002304489] Chr15:78161607 [GRCh38]
Chr15:78453949 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.517G>A (p.Glu173Lys) single nucleotide variant not provided [RCV002299143] Chr15:78162273 [GRCh38]
Chr15:78454615 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.181A>C (p.Ile61Leu) single nucleotide variant not provided [RCV003033494] Chr15:78160098 [GRCh38]
Chr15:78452440 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.175-8G>A single nucleotide variant not provided [RCV002837831] Chr15:78160084 [GRCh38]
Chr15:78452426 [GRCh37]
Chr15:15q25.1		 likely benign
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_005530.3(IDH3A):c.828C>A (p.Gly276=) single nucleotide variant not provided [RCV002842746] Chr15:78165040 [GRCh38]
Chr15:78457382 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.425T>C (p.Ile142Thr) single nucleotide variant not provided [RCV002843004] Chr15:78161716 [GRCh38]
Chr15:78454058 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.876G>C (p.Thr292=) single nucleotide variant not provided [RCV002819325] Chr15:78166161 [GRCh38]
Chr15:78458503 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.273C>T (p.Asn91=) single nucleotide variant not provided [RCV002865991] Chr15:78160190 [GRCh38]
Chr15:78452532 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.860A>T (p.Glu287Val) single nucleotide variant not specified [RCV004171463] Chr15:78165072 [GRCh38]
Chr15:78457414 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.715-4G>C single nucleotide variant not provided [RCV003033001] Chr15:78163712 [GRCh38]
Chr15:78456054 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.478-3C>T single nucleotide variant not provided [RCV002755629] Chr15:78162231 [GRCh38]
Chr15:78454573 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.612-12G>T single nucleotide variant not provided [RCV003033903] Chr15:78163495 [GRCh38]
Chr15:78455837 [GRCh37]
Chr15:15q25.1		 likely benign|uncertain significance
NM_005530.3(IDH3A):c.174+9G>A single nucleotide variant not provided [RCV002819887] Chr15:78157640 [GRCh38]
Chr15:78449982 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.629T>C (p.Leu210Pro) single nucleotide variant not provided [RCV003021489] Chr15:78163524 [GRCh38]
Chr15:78455866 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.478-18G>A single nucleotide variant not provided [RCV002871192] Chr15:78162216 [GRCh38]
Chr15:78454558 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.594G>T (p.Val198=) single nucleotide variant not provided [RCV003021447] Chr15:78162350 [GRCh38]
Chr15:78454692 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.373C>T (p.Arg125Ter) single nucleotide variant not provided [RCV002871412] Chr15:78161664 [GRCh38]
Chr15:78454006 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.558T>C (p.Tyr186=) single nucleotide variant not provided [RCV002705447] Chr15:78162314 [GRCh38]
Chr15:78454656 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.279G>A (p.Met93Ile) single nucleotide variant not provided [RCV002690940]|not specified [RCV004067628] Chr15:78160196 [GRCh38]
Chr15:78452538 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.864+9C>A single nucleotide variant not provided [RCV003019909] Chr15:78165085 [GRCh38]
Chr15:78457427 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.621A>G (p.Ser207=) single nucleotide variant not provided [RCV003054449] Chr15:78163516 [GRCh38]
Chr15:78455858 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.715-15A>G single nucleotide variant not provided [RCV002823880] Chr15:78163701 [GRCh38]
Chr15:78456043 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.289+23_289+24dup duplication not provided [RCV003038586] Chr15:78160225..78160226 [GRCh38]
Chr15:78452567..78452568 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.516C>T (p.Thr172=) single nucleotide variant not provided [RCV002626626] Chr15:78162272 [GRCh38]
Chr15:78454614 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+19G>T single nucleotide variant not provided [RCV002852864] Chr15:78149449 [GRCh38]
Chr15:78441791 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.843T>A (p.Asn281Lys) single nucleotide variant not provided [RCV002894935] Chr15:78165055 [GRCh38]
Chr15:78457397 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.438A>C (p.Arg146=) single nucleotide variant not provided [RCV002852146] Chr15:78161729 [GRCh38]
Chr15:78454071 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.592del (p.Val198fs) deletion not provided [RCV002928998] Chr15:78162347 [GRCh38]
Chr15:78454689 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.1017+5C>G single nucleotide variant not provided [RCV002852243] Chr15:78166307 [GRCh38]
Chr15:78458649 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.175-20C>T single nucleotide variant not provided [RCV003005846] Chr15:78160072 [GRCh38]
Chr15:78452414 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.914C>T (p.Thr305Ile) single nucleotide variant not provided [RCV003057450] Chr15:78166199 [GRCh38]
Chr15:78458541 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1018-5C>T single nucleotide variant not provided [RCV002852930] Chr15:78168917 [GRCh38]
Chr15:78461259 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV002581008] Chr15:78161598 [GRCh38]
Chr15:78453940 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.211A>G (p.Ile71Val) single nucleotide variant not provided [RCV002676383] Chr15:78160128 [GRCh38]
Chr15:78452470 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.865-18A>G single nucleotide variant not provided [RCV002967345] Chr15:78166132 [GRCh38]
Chr15:78458474 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.151A>G (p.Met51Val) single nucleotide variant not provided [RCV002811831] Chr15:78157608 [GRCh38]
Chr15:78449950 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.339G>C (p.Leu113=) single nucleotide variant not provided [RCV003049364] Chr15:78161630 [GRCh38]
Chr15:78453972 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.10C>T (p.Pro4Ser) single nucleotide variant not provided [RCV002938845] Chr15:78149413 [GRCh38]
Chr15:78441755 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.612-12G>C single nucleotide variant not provided [RCV002812093] Chr15:78163495 [GRCh38]
Chr15:78455837 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.780-20A>G single nucleotide variant not provided [RCV002834047] Chr15:78164972 [GRCh38]
Chr15:78457314 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.611+2T>G single nucleotide variant not provided [RCV002856230] Chr15:78162369 [GRCh38]
Chr15:78454711 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.1044T>C (p.Asn348=) single nucleotide variant not provided [RCV003088105] Chr15:78168948 [GRCh38]
Chr15:78461290 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.612-6A>T single nucleotide variant not provided [RCV002857784] Chr15:78163501 [GRCh38]
Chr15:78455843 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV002938773] Chr15:78168950 [GRCh38]
Chr15:78461292 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.865-16T>C single nucleotide variant not provided [RCV003047698] Chr15:78166134 [GRCh38]
Chr15:78458476 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.174+10C>T single nucleotide variant not provided [RCV002720614] Chr15:78157641 [GRCh38]
Chr15:78449983 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.715-19A>G single nucleotide variant not provided [RCV003028299] Chr15:78163697 [GRCh38]
Chr15:78456039 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.20T>C (p.Ile7Thr) single nucleotide variant not provided [RCV002604897] Chr15:78149423 [GRCh38]
Chr15:78441765 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.864G>T (p.Ser288=) single nucleotide variant not provided [RCV003051902] Chr15:78165076 [GRCh38]
Chr15:78457418 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.714+17A>G single nucleotide variant not provided [RCV002609199] Chr15:78163626 [GRCh38]
Chr15:78455968 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.614G>A (p.Arg205Gln) single nucleotide variant not provided [RCV002653269] Chr15:78163509 [GRCh38]
Chr15:78455851 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_005530.3(IDH3A):c.697G>C (p.Asp233His) single nucleotide variant not specified [RCV004272791] Chr15:78163592 [GRCh38]
Chr15:78455934 [GRCh37]
Chr15:15q25.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_005530.3(IDH3A):c.502A>G (p.Ile168Val) single nucleotide variant not specified [RCV004356875] Chr15:78162258 [GRCh38]
Chr15:78454600 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.779+10G>C single nucleotide variant not provided [RCV003569329] Chr15:78163790 [GRCh38]
Chr15:78456132 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.715-5T>C single nucleotide variant not provided [RCV003568871] Chr15:78163711 [GRCh38]
Chr15:78456053 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.165T>C (p.Asp55=) single nucleotide variant not provided [RCV003569212] Chr15:78157622 [GRCh38]
Chr15:78449964 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.90+1G>A single nucleotide variant not provided [RCV003690119] Chr15:78155276 [GRCh38]
Chr15:78447618 [GRCh37]
Chr15:15q25.1		 likely pathogenic
NM_005530.3(IDH3A):c.27+11G>T single nucleotide variant not provided [RCV003716416] Chr15:78149441 [GRCh38]
Chr15:78441783 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.91-11C>T single nucleotide variant not provided [RCV003689731] Chr15:78157537 [GRCh38]
Chr15:78449879 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.143_144delinsGG (p.Ala48Gly) indel not provided [RCV003660521] Chr15:78157600..78157601 [GRCh38]
Chr15:78449942..78449943 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.222T>C (p.Pro74=) single nucleotide variant not provided [RCV003686546] Chr15:78160139 [GRCh38]
Chr15:78452481 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+16C>A single nucleotide variant not provided [RCV003699770] Chr15:78149446 [GRCh38]
Chr15:78441788 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV003833061] Chr15:78149414 [GRCh38]
Chr15:78441756 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.175-5T>C single nucleotide variant not provided [RCV003698251] Chr15:78160087 [GRCh38]
Chr15:78452429 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+13A>G single nucleotide variant not provided [RCV003580335] Chr15:78149443 [GRCh38]
Chr15:78441785 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.324A>G (p.Pro108=) single nucleotide variant not provided [RCV003817511] Chr15:78161615 [GRCh38]
Chr15:78453957 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.735A>G (p.Gln245=) single nucleotide variant not provided [RCV003666398] Chr15:78163736 [GRCh38]
Chr15:78456078 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.648G>A (p.Arg216=) single nucleotide variant not provided [RCV003580823] Chr15:78163543 [GRCh38]
Chr15:78455885 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.1080C>T (p.Arg360=) single nucleotide variant not provided [RCV003675953] Chr15:78168984 [GRCh38]
Chr15:78461326 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.576G>A (p.Arg192=) single nucleotide variant not provided [RCV003565947] Chr15:78162332 [GRCh38]
Chr15:78454674 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.195G>A (p.Glu65=) single nucleotide variant not provided [RCV003670559] Chr15:78160112 [GRCh38]
Chr15:78452454 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.27+20C>G single nucleotide variant not provided [RCV003867831] Chr15:78149450 [GRCh38]
Chr15:78441792 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.174+17A>C single nucleotide variant not provided [RCV003711868] Chr15:78157648 [GRCh38]
Chr15:78449990 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.81dup (p.Thr28fs) duplication not provided [RCV003707828] Chr15:78155262..78155263 [GRCh38]
Chr15:78447604..78447605 [GRCh37]
Chr15:15q25.1		 pathogenic
NM_005530.3(IDH3A):c.478-7C>G single nucleotide variant not provided [RCV003676334] Chr15:78162227 [GRCh38]
Chr15:78454569 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.715-11A>G single nucleotide variant not provided [RCV003676335] Chr15:78163705 [GRCh38]
Chr15:78456047 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.865-6G>A single nucleotide variant IDH3A-related disorder [RCV003936842] Chr15:78166144 [GRCh38]
Chr15:78458486 [GRCh37]
Chr15:15q25.1		 likely benign
NM_005530.3(IDH3A):c.130C>T (p.Pro44Ser) single nucleotide variant not specified [RCV004397855] Chr15:78157587 [GRCh38]
Chr15:78449929 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.521G>A (p.Gly174Glu) single nucleotide variant not specified [RCV004635504] Chr15:78162277 [GRCh38]
Chr15:78454619 [GRCh37]
Chr15:15q25.1		 likely benign
NC_000015.9:g.(?_78397653)_(78461347_?)dup duplication not provided [RCV004583119] Chr15:78397653..78461347 [GRCh37]
Chr15:15q25.1		 uncertain significance
NM_005530.3(IDH3A):c.903G>A (p.Met301Ile) single nucleotide variant not specified [RCV004626324] Chr15:78166188 [GRCh38]
Chr15:78458530 [GRCh37]
Chr15:15q25.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4718
Count of miRNA genes:1216
Interacting mature miRNAs:1527
Transcripts:ENST00000299518, ENST00000441490, ENST00000557826, ENST00000557960, ENST00000558016, ENST00000558509, ENST00000558535, ENST00000558554, ENST00000558602, ENST00000558605, ENST00000558933, ENST00000559106, ENST00000559186, ENST00000559205, ENST00000559803, ENST00000559865, ENST00000559881, ENST00000559889, ENST00000560396, ENST00000560414, ENST00000560667, ENST00000560770, ENST00000561279, ENST00000561366
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407295753GWAS944729_Hclonal hematopoiesis mutation measurement QTL GWAS944729 (human)1e-08clonal hematopoiesis mutation measurement157814942778149428Human

Markers in Region
RH64913  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,462,637 - 78,462,826UniSTSGRCh37
GRCh37830,966,054 - 30,966,234UniSTSGRCh37
Build 36831,085,596 - 31,085,776RGDNCBI36
Celera1555,399,167 - 55,399,356UniSTS
Celera829,924,636 - 29,924,816RGD
Cytogenetic Map15q25.1-q25.2UniSTS
Cytogenetic Map8p12UniSTS
HuRef1555,220,202 - 55,220,391UniSTS
HuRef829,511,168 - 29,511,348UniSTS
STS-U07681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,461,368 - 78,461,524UniSTSGRCh37
Build 361576,248,423 - 76,248,579RGDNCBI36
Celera1555,397,898 - 55,398,054RGD
Cytogenetic Map15q25.1-q25.2UniSTS
HuRef1555,218,933 - 55,219,089UniSTS
GeneMap99-GB4 RH Map15272.24UniSTS
NCBI RH Map15519.7UniSTS
D15S1087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371578,462,592 - 78,462,841UniSTSGRCh37
Build 361576,249,647 - 76,249,896RGDNCBI36
Celera1555,399,122 - 55,399,371RGD
Cytogenetic Map15q25.1-q25.2UniSTS
HuRef1555,220,157 - 55,220,406UniSTS
GeneMap99-GB4 RH Map15270.05UniSTS
Whitehead-RH Map15288.6UniSTS
NCBI RH Map15513.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC090260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000299518   ⟹   ENSP00000299518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,362 - 78,171,945 (+)Ensembl
Ensembl Acc Id: ENST00000557826   ⟹   ENSP00000453480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,362 - 78,160,206 (+)Ensembl
Ensembl Acc Id: ENST00000557960   ⟹   ENSP00000453459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,166,241 - 78,171,255 (+)Ensembl
Ensembl Acc Id: ENST00000558016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,166,105 - 78,169,258 (+)Ensembl
Ensembl Acc Id: ENST00000558509   ⟹   ENSP00000453992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,377 - 78,163,563 (+)Ensembl
Ensembl Acc Id: ENST00000558535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,159,970 - 78,170,542 (+)Ensembl
Ensembl Acc Id: ENST00000558554   ⟹   ENSP00000453084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,360 - 78,169,560 (+)Ensembl
Ensembl Acc Id: ENST00000558602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,156,923 - 78,169,671 (+)Ensembl
Ensembl Acc Id: ENST00000558605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,131,498 - 78,157,579 (+)Ensembl
Ensembl Acc Id: ENST00000558933   ⟹   ENSP00000452620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,326 - 78,166,200 (+)Ensembl
Ensembl Acc Id: ENST00000559106   ⟹   ENSP00000453008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,409 - 78,161,633 (+)Ensembl
Ensembl Acc Id: ENST00000559186   ⟹   ENSP00000452754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,368 - 78,161,768 (+)Ensembl
Ensembl Acc Id: ENST00000559205   ⟹   ENSP00000453989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,380 - 78,169,283 (+)Ensembl
Ensembl Acc Id: ENST00000559803   ⟹   ENSP00000453338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,380 - 78,168,966 (+)Ensembl
Ensembl Acc Id: ENST00000559865   ⟹   ENSP00000453438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,377 - 78,161,692 (+)Ensembl
Ensembl Acc Id: ENST00000559881   ⟹   ENSP00000453222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,377 - 78,162,310 (+)Ensembl
Ensembl Acc Id: ENST00000559889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,378 - 78,169,674 (+)Ensembl
Ensembl Acc Id: ENST00000560396   ⟹   ENSP00000453192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,373 - 78,161,768 (+)Ensembl
Ensembl Acc Id: ENST00000560414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,392 - 78,155,732 (+)Ensembl
Ensembl Acc Id: ENST00000560667   ⟹   ENSP00000453033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,360 - 78,169,715 (+)Ensembl
Ensembl Acc Id: ENST00000560770   ⟹   ENSP00000453903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,377 - 78,157,631 (+)Ensembl
Ensembl Acc Id: ENST00000561279   ⟹   ENSP00000453747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,362 - 78,162,367 (+)Ensembl
Ensembl Acc Id: ENST00000561366   ⟹   ENSP00000453795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,163,716 - 78,166,473 (+)Ensembl
Ensembl Acc Id: ENST00000629769   ⟹   ENSP00000485769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1578,149,404 - 78,156,931 (+)Ensembl
RefSeq Acc Id: NM_005530   ⟹   NP_005521
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,149,362 - 78,171,945 (+)NCBI
GRCh371578,441,698 - 78,462,884 (+)NCBI
Build 361576,228,774 - 76,249,939 (+)NCBI Archive
HuRef1555,199,257 - 55,220,449 (+)ENTREZGENE
CHM1_11578,559,625 - 78,580,790 (+)NCBI
T2T-CHM13v2.01576,011,920 - 76,034,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449911   ⟹   XP_024305679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,149,362 - 78,171,945 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432428   ⟹   XP_047288384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,149,362 - 78,171,945 (+)NCBI
RefSeq Acc Id: XM_047432429   ⟹   XP_047288385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,149,362 - 78,171,945 (+)NCBI
RefSeq Acc Id: XM_047432430   ⟹   XP_047288386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381578,149,362 - 78,171,945 (+)NCBI
RefSeq Acc Id: XM_054377805   ⟹   XP_054233780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,011,920 - 76,034,530 (+)NCBI
RefSeq Acc Id: XM_054377806   ⟹   XP_054233781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,020,101 - 76,034,530 (+)NCBI
RefSeq Acc Id: XM_054377807   ⟹   XP_054233782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01576,011,925 - 76,019,715 (+)NCBI
Protein Sequences
Protein RefSeqs NP_005521 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305679 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288384 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288385 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288386 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233780 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233781 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233782 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA85639 (Get FASTA)   NCBI Sequence Viewer  
  AAH21967 (Get FASTA)   NCBI Sequence Viewer  
  BAD96693 (Get FASTA)   NCBI Sequence Viewer  
  BAG58776 (Get FASTA)   NCBI Sequence Viewer  
  BAG61796 (Get FASTA)   NCBI Sequence Viewer  
  BAH14334 (Get FASTA)   NCBI Sequence Viewer  
  BAH14422 (Get FASTA)   NCBI Sequence Viewer  
  CAC09449 (Get FASTA)   NCBI Sequence Viewer  
  CAH18348 (Get FASTA)   NCBI Sequence Viewer  
  EAW99181 (Get FASTA)   NCBI Sequence Viewer  
  EAW99182 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299518
  ENSP00000299518.2
  ENSP00000452620.1
  ENSP00000452754.1
  ENSP00000453008.1
  ENSP00000453033.1
  ENSP00000453084.1
  ENSP00000453192.1
  ENSP00000453222.1
  ENSP00000453338.1
  ENSP00000453438.1
  ENSP00000453459.1
  ENSP00000453480.1
  ENSP00000453747.1
  ENSP00000453795.1
  ENSP00000453903.1
  ENSP00000453989.1
  ENSP00000453992.1
  ENSP00000485769.1
GenBank Protein P50213 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005521   ⟸   NM_005530
- Peptide Label: precursor
- UniProtKB: D3DW83 (UniProtKB/Swiss-Prot),   Q9H3X0 (UniProtKB/Swiss-Prot),   P50213 (UniProtKB/Swiss-Prot),   Q53GF8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305679   ⟸   XM_024449911
- Peptide Label: isoform X1
- UniProtKB: B4DJB4 (UniProtKB/TrEMBL),   Q53GF8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000453459   ⟸   ENST00000557960
Ensembl Acc Id: ENSP00000453480   ⟸   ENST00000557826
Ensembl Acc Id: ENSP00000453992   ⟸   ENST00000558509
Ensembl Acc Id: ENSP00000453084   ⟸   ENST00000558554
Ensembl Acc Id: ENSP00000452620   ⟸   ENST00000558933
Ensembl Acc Id: ENSP00000453989   ⟸   ENST00000559205
Ensembl Acc Id: ENSP00000453438   ⟸   ENST00000559865
Ensembl Acc Id: ENSP00000453338   ⟸   ENST00000559803
Ensembl Acc Id: ENSP00000453222   ⟸   ENST00000559881
Ensembl Acc Id: ENSP00000453008   ⟸   ENST00000559106
Ensembl Acc Id: ENSP00000452754   ⟸   ENST00000559186
Ensembl Acc Id: ENSP00000453192   ⟸   ENST00000560396
Ensembl Acc Id: ENSP00000453903   ⟸   ENST00000560770
Ensembl Acc Id: ENSP00000453033   ⟸   ENST00000560667
Ensembl Acc Id: ENSP00000299518   ⟸   ENST00000299518
Ensembl Acc Id: ENSP00000453747   ⟸   ENST00000561279
Ensembl Acc Id: ENSP00000453795   ⟸   ENST00000561366
Ensembl Acc Id: ENSP00000485769   ⟸   ENST00000629769
RefSeq Acc Id: XP_047288385   ⟸   XM_047432429
- Peptide Label: isoform X1
- UniProtKB: B4DJB4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288384   ⟸   XM_047432428
- Peptide Label: isoform X1
- UniProtKB: B4DJB4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047288386   ⟸   XM_047432430
- Peptide Label: isoform X2
- UniProtKB: E7EWD2 (UniProtKB/TrEMBL),   B7Z9J8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233780   ⟸   XM_054377805
- Peptide Label: isoform X1
- UniProtKB: B4DJB4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233782   ⟸   XM_054377807
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233781   ⟸   XM_054377806
- Peptide Label: isoform X2
- UniProtKB: E7EWD2 (UniProtKB/TrEMBL),   B7Z9J8 (UniProtKB/TrEMBL)
Protein Domains
Isopropylmalate dehydrogenase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50213-F1-model_v2 AlphaFold P50213 1-366 view protein structure

Promoters
RGD ID:6792398
Promoter ID:HG_KWN:22030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379576,   OTTHUMT00000289799,   UC002BDE.1,   UC002BDF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361576,227,816 - 76,228,897 (+)MPROMDB
RGD ID:6851444
Promoter ID:EP73523
Type:initiation region
Name:HS_IDH3A
Description:Isocitrate dehydrogenase 3 (NAD+) alpha.
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 361576,228,774 - 76,228,834EPD
RGD ID:7230221
Promoter ID:EPDNEW_H20856
Type:initiation region
Name:IDH3A_1
Description:isocitrate dehydrogenase 3 (NAD(+)) alpha
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
GRCh381578,149,377 - 78,149,437EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5384 AgrOrtholog
COSMIC IDH3A COSMIC
Ensembl Genes ENSG00000166411 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000299518 ENTREZGENE
  ENST00000299518.7 UniProtKB/Swiss-Prot
  ENST00000557826.5 UniProtKB/TrEMBL
  ENST00000557960.1 UniProtKB/TrEMBL
  ENST00000558509.5 UniProtKB/TrEMBL
  ENST00000558554.5 UniProtKB/TrEMBL
  ENST00000558933.5 UniProtKB/TrEMBL
  ENST00000559106.5 UniProtKB/TrEMBL
  ENST00000559186.5 UniProtKB/TrEMBL
  ENST00000559205.1 UniProtKB/TrEMBL
  ENST00000559803.5 UniProtKB/TrEMBL
  ENST00000559865.5 UniProtKB/TrEMBL
  ENST00000559881.5 UniProtKB/TrEMBL
  ENST00000560396.5 UniProtKB/TrEMBL
  ENST00000560667.5 UniProtKB/TrEMBL
  ENST00000560770.5 UniProtKB/TrEMBL
  ENST00000561279.5 UniProtKB/TrEMBL
  ENST00000561366.1 UniProtKB/TrEMBL
  ENST00000629769.2 UniProtKB/TrEMBL
Gene3D-CATH Isopropylmalate Dehydrogenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166411 GTEx
HGNC ID HGNC:5384 ENTREZGENE
Human Proteome Map IDH3A Human Proteome Map
InterPro IsoCit/isopropylmalate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isocitrate_DH_NAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IsoPropMal-DH-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3419 UniProtKB/Swiss-Prot
NCBI Gene 3419 ENTREZGENE
OMIM 601149 OMIM
PANTHER DECARBOXYLATING DEHYDROGENASES-ISOCITRATE, ISOPROPYLMALATE, TARTRATE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISOCITRATE DEHYDROGENASE [NAD] SUBUNIT ALPHA, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29632 PharmGKB
PROSITE IDH_IMDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Isocitrate/Isopropylmalate dehydrogenase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JL95_HUMAN UniProtKB/TrEMBL
  B4DJB4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9J8 ENTREZGENE, UniProtKB/TrEMBL
  D3DW83 ENTREZGENE
  E7EWD2 ENTREZGENE
  H0YKD0_HUMAN UniProtKB/TrEMBL
  H0YL05_HUMAN UniProtKB/TrEMBL
  H0YL72_HUMAN UniProtKB/TrEMBL
  H0YLF8_HUMAN UniProtKB/TrEMBL
  H0YLI6_HUMAN UniProtKB/TrEMBL
  H0YM46_HUMAN UniProtKB/TrEMBL
  H0YM64_HUMAN UniProtKB/TrEMBL
  H0YMU3_HUMAN UniProtKB/TrEMBL
  H0YMY5_HUMAN UniProtKB/TrEMBL
  H0YNF5_HUMAN UniProtKB/TrEMBL
  H0YNF8_HUMAN UniProtKB/TrEMBL
  IDH3A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53GF8 ENTREZGENE, UniProtKB/TrEMBL
  Q68D72_HUMAN UniProtKB/TrEMBL
  Q9H326_HUMAN UniProtKB/TrEMBL
  Q9H3X0 ENTREZGENE
UniProt Secondary D3DW83 UniProtKB/Swiss-Prot
  E7EWD2 UniProtKB/TrEMBL
  Q9H3X0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 IDH3A  isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha  IDH3A  isocitrate dehydrogenase (NAD(+)) 3 alpha  Symbol and/or name change 5135510 APPROVED
2019-04-16 IDH3A  isocitrate dehydrogenase (NAD(+)) 3 alpha  IDH3A  isocitrate dehydrogenase 3 (NAD(+)) alpha  Symbol and/or name change 5135510 APPROVED
2016-05-03 IDH3A  isocitrate dehydrogenase 3 (NAD(+)) alpha  IDH3A  isocitrate dehydrogenase 3 (NAD+) alpha  Symbol and/or name change 5135510 APPROVED