IDH1 (isocitrate dehydrogenase (NADP(+)) 1) - Rat Genome Database

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Gene: IDH1 (isocitrate dehydrogenase (NADP(+)) 1) Homo sapiens
Analyze
Symbol: IDH1
Name: isocitrate dehydrogenase (NADP(+)) 1
RGD ID: 737145
HGNC Page HGNC:5382
Description: Enables isocitrate dehydrogenase (NADP+) activity; magnesium ion binding activity; and protein homodimerization activity. Involved in 2-oxoglutarate metabolic process and isocitrate metabolic process. Located in cytosol and peroxisome. Implicated in autoimmune disease; hematologic cancer (multiple); hepatocellular clear cell carcinoma; and high grade glioma (multiple). Biomarker of lung adenocarcinoma and lung squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cytosolic NADP-isocitrate dehydrogenase; epididymis luminal protein 216; epididymis secretory protein Li 26; HEL-216; HEL-S-26; IDCD; IDH; IDP; IDPC; isocitrate dehydrogenase (NADP(+)) 1, cytosolic; isocitrate dehydrogenase 1; isocitrate dehydrogenase 1 (NADP+); isocitrate dehydrogenase 1 (NADP+), soluble; isocitrate dehydrogenase [NADP] cytoplasmic; NADP(+)-specific ICDH; NADP+-specific ICDH; NADP-dependent isocitrate dehydrogenase, cytosolic; NADP-dependent isocitrate dehydrogenase, peroxisomal; oxalosuccinate decarboxylase; PICD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: IDH1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,236,227 - 208,255,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,236,229 - 208,266,074 (-)EnsemblGRCh38hg38GRCh38
GRCh372209,100,951 - 209,119,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,809,198 - 208,828,051 (-)NCBINCBI36Build 36hg18NCBI36
Build 342208,926,459 - 208,945,312NCBI
Celera2202,868,863 - 202,887,731 (-)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2200,949,019 - 200,967,890 (-)NCBIHuRef
CHM1_12209,106,806 - 209,125,662 (-)NCBICHM1_1
T2T-CHM13v2.02208,716,002 - 208,734,866 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-hydroxyglutaric acid  (EXP)
2-methylcholine  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aniline  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
astaxanthin  (ISO)
azathioprine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
celastrol  (ISO)
chloroprene  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cumene hydroperoxide  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenthion  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
imidazoles  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
ketamine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
lutein  (ISO)
medroxyprogesterone acetate  (EXP)
metam  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
ochratoxin A  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenols  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
progesterone  (EXP)
Pyridostigmine bromide  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP,ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal bone ossification  (IAGP)
Abnormal cartilage morphology  (IAGP)
Abnormal globus pallidus morphology  (IAGP)
Abnormal joint morphology  (IAGP)
Abnormal leukocyte count  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal platelet count  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormal septum pellucidum morphology  (IAGP)
Abnormality of coagulation  (IAGP)
Acute myeloid leukemia  (IAGP)
Acute myelomonocytic leukemia  (IAGP)
Anemia  (IAGP)
Astrocytoma  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bone pain  (IAGP)
Brain neoplasm  (IAGP)
Brainstem glioma  (IAGP)
Breast carcinoma  (IAGP)
Broad carpal bones  (IAGP)
Broad forehead  (IAGP)
Cavernous hemangioma  (IAGP)
Cavernous hemangioma of the face  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebral palsy  (IAGP)
Cerebral white matter atrophy  (IAGP)
Chondrosarcoma  (IAGP)
Cranial nerve paralysis  (IAGP)
Cutaneous melanoma  (IAGP)
D-2-hydroxyglutaric aciduria  (IAGP)
Delayed myelination  (IAGP)
Developmental cataract  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry skin  (IAGP)
Dysphagia  (IAGP)
Enlargement of the ankles  (IAGP)
Ependymoma  (IAGP)
Exostoses  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Generalized hypotonia  (IAGP)
Genu varum  (IAGP)
Glioblastoma multiforme  (IAGP)
Global developmental delay  (IAGP)
Goiter  (IAGP)
Growth delay  (IAGP)
Hemangioma  (IAGP)
Hemangiomatosis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperpigmented papule  (IAGP)
Intracranial cystic lesion  (IAGP)
Intrauterine growth retardation  (IAGP)
Irregular iliac crest  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint stiffness  (IAGP)
Large knee  (IAGP)
Laryngomalacia  (IAGP)
Long philtrum  (IAGP)
Lumbar scoliosis  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphangioma  (IAGP)
Lymphoma  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Medulloblastoma  (IAGP)
Metaphyseal chondromatosis of femur  (IAGP)
Metaphyseal chondromatosis of radius  (IAGP)
Metaphyseal chondromatosis of tibia  (IAGP)
Metaphyseal chondromatosis of ulna  (IAGP)
Metaphyseal cupping  (IAGP)
Metaphyseal dysplasia  (IAGP)
Metaphyseal enchondromatosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal widening  (IAGP)
Micromelia  (IAGP)
Motor delay  (IAGP)
Multiple enchondromatosis  (IAGP)
Multiple joint contractures  (IAGP)
Multiple myeloma  (IAGP)
Myelodysplasia  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the adrenal cortex  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the parathyroid gland  (IAGP)
Oligodendroglioma  (IAGP)
Osteolysis  (IAGP)
Ovarian neoplasm  (IAGP)
Parathyroid adenoma  (IAGP)
Pituitary adenoma  (IAGP)
Platyspondyly  (IAGP)
Poor suck  (IAGP)
Precocious puberty  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent fractures  (IAGP)
Recurrent pneumonia  (IAGP)
Respiratory distress  (IAGP)
Retrognathia  (IAGP)
Sarcoma  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Sepsis  (IAGP)
Shield chest  (IAGP)
Short neck  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Skin plaque  (IAGP)
Skin ulcer  (IAGP)
Subarterial ventricular septal defect  (IAGP)
Subcutaneous nodule  (IAGP)
Telecanthus  (IAGP)
Thin vermilion border  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Typified by somatic mosaicism  (IAGP)
Unilateral renal agenesis  (IAGP)
Vascular tortuosity  (IAGP)
Venous thrombosis  (IAGP)
Ventriculomegaly  (IAGP)
Visceral angiomatosis  (IAGP)
Waddling gait  (IAGP)
Wide intermamillary distance  (IAGP)
Widened cerebral subarachnoid space  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Wild-Type Isocitrate Dehydrogenase 1 Over-Expression is Related to Cancer Stem Cells Survival in Lung Adenocarcinoma. Al-Amodi HSAB, etal., Cancer Invest. 2018 Mar 16;36(3):185-189. doi: 10.1080/07357907.2018.1445262. Epub 2018 Mar 14.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Prognosis and Clinicopathologic Features of Patients With Advanced Stage Isocitrate Dehydrogenase (IDH) Mutant and IDH Wild-Type Intrahepatic Cholangiocarcinoma. Goyal L, etal., Oncologist. 2015 Sep;20(9):1019-27. doi: 10.1634/theoncologist.2015-0210. Epub 2015 Aug 5.
4. Prognostic value of isocitrate dehydrogenase mutations in myelodysplastic syndromes: a retrospective cohort study and meta-analysis. Jin J, etal., PLoS One. 2014 Jun 17;9(6):e100206. doi: 10.1371/journal.pone.0100206. eCollection 2014.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. IDH2 mutation in gliomas including novel mutation. Koh J, etal., Neuropathology. 2015 Jun;35(3):236-44. doi: 10.1111/neup.12187. Epub 2014 Dec 12.
7. IDH1 R132C mutation is detected in clear cell hepatocellular carcinoma by pyrosequencing. Lee JH, etal., World J Surg Oncol. 2017 Apr 12;15(1):82. doi: 10.1186/s12957-017-1144-1.
8. IDH1 and IDH2 gene mutations identify novel molecular subsets within de novo cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. Marcucci G, etal., J Clin Oncol. 2010 May 10;28(14):2348-55. doi: 10.1200/JCO.2009.27.3730. Epub 2010 Apr 5.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic study of 277 patients. Patnaik MM, etal., Leukemia. 2012 Jan;26(1):101-5. doi: 10.1038/leu.2011.298. Epub 2011 Oct 28.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Anti-diabetic effects of DA-11004, a synthetic IDPc inhibitor in high fat high sucrose diet-fed C57BL/6J mice. Shin CY, etal., Arch Pharm Res. 2004 Jan;27(1):48-52.
16. Analysis of IDH1 and IDH2 mutations in Japanese glioma patients. Sonoda Y, etal., Cancer Sci. 2009 Oct;100(10):1996-8. doi: 10.1111/j.1349-7006.2009.01270.x.
17. Isocitrate dehydrogenase 1 is a novel plasma biomarker for the diagnosis of non-small cell lung cancer. Sun N, etal., Clin Cancer Res. 2013 Sep 15;19(18):5136-45. doi: 10.1158/1078-0432.CCR-13-0046.
18. Distinct histomorphological features are associated with IDH1 mutation in intrahepatic cholangiocarcinoma. Wang T, etal., Hum Pathol. 2019 Sep;91:19-25. doi: 10.1016/j.humpath.2019.05.002. Epub 2019 May 21.
19. Mutations in the isocitrate dehydrogenase 2 gene and IDH1 SNP 105C > T have a prognostic value in acute myeloid leukemia. Willander K, etal., Biomark Res. 2014 Oct 8;2:18. doi: 10.1186/2050-7771-2-18. eCollection 2014.
20. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
21. Genetic variations in IDH gene as prognosis predictors in TACE-treated hepatocellular carcinoma patients. Zhang H, etal., Med Oncol. 2014 Nov;31(11):278. doi: 10.1007/s12032-014-0278-z. Epub 2014 Oct 22.
Additional References at PubMed
PMID:3861566   PMID:4388365   PMID:4422176   PMID:7551812   PMID:9866202   PMID:10521434   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12923220   PMID:15173171  
PMID:15489334   PMID:15489336   PMID:15936593   PMID:16169070   PMID:16236267   PMID:16344560   PMID:16381901   PMID:16396496   PMID:16751257   PMID:16756494   PMID:18187620   PMID:18772396  
PMID:18854154   PMID:18985363   PMID:19056867   PMID:19117336   PMID:19228619   PMID:19246647   PMID:19322201   PMID:19340432   PMID:19350208   PMID:19351817   PMID:19359588   PMID:19378339  
PMID:19411854   PMID:19435942   PMID:19469031   PMID:19543740   PMID:19554337   PMID:19636000   PMID:19657110   PMID:19667985   PMID:19755387   PMID:19805672   PMID:19903171   PMID:19915015  
PMID:19915484   PMID:19933982   PMID:19935646   PMID:20077503   PMID:20097881   PMID:20127344   PMID:20129251   PMID:20131059   PMID:20133500   PMID:20142433   PMID:20160062   PMID:20171147  
PMID:20171178   PMID:20174854   PMID:20178365   PMID:20227112   PMID:20367200   PMID:20368538   PMID:20376084   PMID:20376086   PMID:20410924   PMID:20427748   PMID:20459648   PMID:20465388  
PMID:20473936   PMID:20485375   PMID:20494930   PMID:20508616   PMID:20510884   PMID:20514489   PMID:20534697   PMID:20538800   PMID:20560678   PMID:20567020   PMID:20603105   PMID:20615753  
PMID:20625116   PMID:20634891   PMID:20651067   PMID:20659156   PMID:20661018   PMID:20667415   PMID:20678218   PMID:20692206   PMID:20702649   PMID:20725730   PMID:20805365   PMID:20874727  
PMID:20877624   PMID:20880116   PMID:20944672   PMID:20946881   PMID:20962861   PMID:20972461   PMID:20975057   PMID:20975740   PMID:21045145   PMID:21069360   PMID:21075857   PMID:21079611  
PMID:21079649   PMID:21080178   PMID:21083371   PMID:21088844   PMID:21130701   PMID:21163902   PMID:21173122   PMID:21177338   PMID:21181477   PMID:21225914   PMID:21233841   PMID:21284999  
PMID:21289278   PMID:21294161   PMID:21301070   PMID:21307773   PMID:21314850   PMID:21316759   PMID:21319273   PMID:21326241   PMID:21326614   PMID:21343879   PMID:21346257   PMID:21356389  
PMID:21383741   PMID:21437454   PMID:21480859   PMID:21481010   PMID:21506885   PMID:21516116   PMID:21516462   PMID:21539821   PMID:21569770   PMID:21575384   PMID:21598255   PMID:21625441  
PMID:21643842   PMID:21643985   PMID:21647152   PMID:21647154   PMID:21690245   PMID:21707716   PMID:21717448   PMID:21755347   PMID:21781445   PMID:21784755   PMID:21845536   PMID:21867611  
PMID:21873548   PMID:21873635   PMID:21874255   PMID:21885076   PMID:21898821   PMID:21904853   PMID:21910919   PMID:21912393   PMID:21922591   PMID:21929658   PMID:21955925   PMID:21983902  
PMID:21996744   PMID:21997850   PMID:22002076   PMID:22015945   PMID:22020636   PMID:22025298   PMID:22034964   PMID:22052461   PMID:22057234   PMID:22057236   PMID:22064513   PMID:22072542  
PMID:22074484   PMID:22076165   PMID:22101433   PMID:22106302   PMID:22113362   PMID:22136423   PMID:22144470   PMID:22147457   PMID:22166653   PMID:22172803   PMID:22180306   PMID:22192702  
PMID:22197544   PMID:22199315   PMID:22217666   PMID:22238332   PMID:22238333   PMID:22264756   PMID:22270848   PMID:22281465   PMID:22291938   PMID:22322613   PMID:22323113   PMID:22326863  
PMID:22343889   PMID:22343901   PMID:22360629   PMID:22360810   PMID:22385606   PMID:22392125   PMID:22396072   PMID:22396073   PMID:22397365   PMID:22399191   PMID:22410704   PMID:22415316  
PMID:22427879   PMID:22432788   PMID:22445362   PMID:22503487   PMID:22520341   PMID:22528790   PMID:22616558   PMID:22658674   PMID:22668828   PMID:22683334   PMID:22687971   PMID:22688054  
PMID:22748659   PMID:22752663   PMID:22763442   PMID:22772731   PMID:22772980   PMID:22781348   PMID:22781800   PMID:22785212   PMID:22790483   PMID:22809434   PMID:22824796   PMID:22825915  
PMID:22844452   PMID:22863883   PMID:22868530   PMID:22869205   PMID:22885298   PMID:22890969   PMID:22899282   PMID:22904127   PMID:22917530   PMID:22922798   PMID:22922872   PMID:22929312  
PMID:22939629   PMID:22945896   PMID:22968464   PMID:23011765   PMID:23015095   PMID:23035067   PMID:23038259   PMID:23039322   PMID:23041832   PMID:23053494   PMID:23063752   PMID:23064941  
PMID:23071358   PMID:23072665   PMID:23074281   PMID:23079654   PMID:23111198   PMID:23115158   PMID:23135354   PMID:23184331   PMID:23187294   PMID:23192014   PMID:23204232   PMID:23223340  
PMID:23232569   PMID:23235339   PMID:23236540   PMID:23264629   PMID:23307057   PMID:23330999   PMID:23358936   PMID:23361564   PMID:23365461   PMID:23373447   PMID:23376485   PMID:23391413  
PMID:23410661   PMID:23412777   PMID:23429602   PMID:23438035   PMID:23451042   PMID:23451940   PMID:23485734   PMID:23486687   PMID:23486690   PMID:23494632   PMID:23494873   PMID:23504258  
PMID:23512379   PMID:23532369   PMID:23533145   PMID:23558169   PMID:23561624   PMID:23581583   PMID:23598960   PMID:23641016   PMID:23681562   PMID:23689617   PMID:23731180   PMID:23737489  
PMID:23793099   PMID:23801081   PMID:23817809   PMID:23840696   PMID:23877318   PMID:23894344   PMID:23904262   PMID:23918605   PMID:23934175   PMID:23934769   PMID:23954893   PMID:23988086  
PMID:23996483   PMID:23999441   PMID:24004584   PMID:24019001   PMID:24068788   PMID:24077277   PMID:24089051   PMID:24129546   PMID:24149775   PMID:24160898   PMID:24286310   PMID:24295421  
PMID:24305719   PMID:24311631   PMID:24324372   PMID:24333121   PMID:24362902   PMID:24368190   PMID:24376688   PMID:24384677   PMID:24405933   PMID:24443894   PMID:24460285   PMID:24473683  
PMID:24478380   PMID:24510240   PMID:24511544   PMID:24529257   PMID:24531386   PMID:24532263   PMID:24557705   PMID:24565682   PMID:24569570   PMID:24590270   PMID:24606448   PMID:24626950  
PMID:24699305   PMID:24722048   PMID:24755473   PMID:24760710   PMID:24771584   PMID:24847087   PMID:24857351   PMID:24860178   PMID:24867810   PMID:24868540   PMID:24877111   PMID:24880135  
PMID:24887488   PMID:24889502   PMID:24895549   PMID:24898068   PMID:24903073   PMID:24922649   PMID:24958096   PMID:24970694   PMID:24986863   PMID:24993250   PMID:25005896   PMID:25008158  
PMID:25008768   PMID:25029120   PMID:25033601   PMID:25035396   PMID:25040869   PMID:25043045   PMID:25078896   PMID:25135281   PMID:25150284   PMID:25155243   PMID:25164322   PMID:25170661  
PMID:25225364   PMID:25243911   PMID:25251602   PMID:25277207   PMID:25283382   PMID:25391653   PMID:25407774   PMID:25432631   PMID:25455102   PMID:25468996   PMID:25486927   PMID:25496513  
PMID:25511738   PMID:25523507   PMID:25524848   PMID:25555220   PMID:25586175   PMID:25586680   PMID:25634750   PMID:25648147   PMID:25650121   PMID:25651001   PMID:25652153   PMID:25674227  
PMID:25678837   PMID:25701198   PMID:25706986   PMID:25732040   PMID:25778530   PMID:25783747   PMID:25790191   PMID:25811801   PMID:25818003   PMID:25836588   PMID:25849605   PMID:25862748  
PMID:25895133   PMID:25921289   PMID:25962792   PMID:25964481   PMID:25987093   PMID:26006098   PMID:26008980   PMID:26016385   PMID:26016821   PMID:26022161   PMID:26045167   PMID:26046462  
PMID:26049021   PMID:26061753   PMID:26091668   PMID:26095778   PMID:26109200   PMID:26115961   PMID:26125858   PMID:26138051   PMID:26147657   PMID:26158269   PMID:26161668   PMID:26185030  
PMID:26188014   PMID:26189213   PMID:26228814   PMID:26243269   PMID:26276726   PMID:26280302   PMID:26314843   PMID:26316565   PMID:26324126   PMID:26328938   PMID:26331834   PMID:26337623  
PMID:26338964   PMID:26344197   PMID:26351014   PMID:26395639   PMID:26409566   PMID:26414224   PMID:26436839   PMID:26485760   PMID:26486081   PMID:26503470   PMID:26524630   PMID:26545048  
PMID:26558387   PMID:26562302   PMID:26582645   PMID:26599207   PMID:26617931   PMID:26618343   PMID:26669865   PMID:26678339   PMID:26700815   PMID:26703962   PMID:26780338   PMID:26819452  
PMID:26834160   PMID:26877611   PMID:26911558   PMID:26918938   PMID:26927556   PMID:26935296   PMID:26936071   PMID:26945349   PMID:26951332   PMID:26957363   PMID:26960449   PMID:26980223  
PMID:26987944   PMID:27005468   PMID:27063596   PMID:27071442   PMID:27097804   PMID:27120786   PMID:27144334   PMID:27145078   PMID:27155448   PMID:27229929   PMID:27231123   PMID:27245697  
PMID:27268645   PMID:27270908   PMID:27353503   PMID:27354064   PMID:27401888   PMID:27406953   PMID:27409829   PMID:27424808   PMID:27428487   PMID:27430238   PMID:27431380   PMID:27460417  
PMID:27466503   PMID:27468718   PMID:27526690   PMID:27548812   PMID:27553586   PMID:27576872   PMID:27624942   PMID:27626492   PMID:27655638   PMID:27664011   PMID:27684187   PMID:27735988  
PMID:27764705   PMID:27780605   PMID:27782828   PMID:27820599   PMID:27834917   PMID:27848136   PMID:27849434   PMID:27978414   PMID:27982759   PMID:27997717   PMID:28091987   PMID:28110298  
PMID:28116838   PMID:28122345   PMID:28124097   PMID:28148839   PMID:28218607   PMID:28228392   PMID:28263929   PMID:28297679   PMID:28298040   PMID:28302331   PMID:28319047   PMID:28330869  
PMID:28340142   PMID:28402860   PMID:28404805   PMID:28408400   PMID:28445981   PMID:28467784   PMID:28507382   PMID:28534992   PMID:28549927   PMID:28552826   PMID:28561688   PMID:28564604  
PMID:28653623   PMID:28667042   PMID:28710497   PMID:28748342   PMID:28751773   PMID:28765326   PMID:28785587   PMID:28860121   PMID:28869450   PMID:28873367   PMID:28902428   PMID:28916733  
PMID:28948065   PMID:29016871   PMID:29026176   PMID:29039582   PMID:29057925   PMID:29090344   PMID:29091765   PMID:29115585   PMID:29126125   PMID:29169374   PMID:29172136   PMID:29180699  
PMID:29272522   PMID:29278425   PMID:29288440   PMID:29288860   PMID:29328863   PMID:29331887   PMID:29339439   PMID:29355841   PMID:29367755   PMID:29369751   PMID:29396294   PMID:29414139  
PMID:29423539   PMID:29427004   PMID:29472349   PMID:29535392   PMID:29543066   PMID:29545335   PMID:29562167   PMID:29572492   PMID:29625108   PMID:29633022   PMID:29660019   PMID:29661250  
PMID:29676036   PMID:29723602   PMID:29743236   PMID:29753008   PMID:29761621   PMID:29789422   PMID:29846690   PMID:29849122   PMID:29863707   PMID:29871612   PMID:29871819   PMID:29874711  
PMID:29921698   PMID:30001166   PMID:30003571   PMID:30115812   PMID:30131249   PMID:30153799   PMID:30159860   PMID:30176240   PMID:30194083   PMID:30194745   PMID:30220117   PMID:30257451  
PMID:30266754   PMID:30266764   PMID:30277427   PMID:30278918   PMID:30296521   PMID:30299371   PMID:30305430   PMID:30326163   PMID:30355481   PMID:30355724   PMID:30377206   PMID:30381394  
PMID:30391048   PMID:30397180   PMID:30427756   PMID:30442662   PMID:30506321   PMID:30558073   PMID:30575118   PMID:30575818   PMID:30596429   PMID:30622284   PMID:30696801   PMID:30698743  
PMID:30720071   PMID:30735871   PMID:30760578   PMID:30809309   PMID:30809977   PMID:30889491   PMID:31014573   PMID:31028406   PMID:31068457   PMID:31091453   PMID:31092874   PMID:31100523  
PMID:31108342   PMID:31110157   PMID:31134296   PMID:31141785   PMID:31151327   PMID:31152217   PMID:31175415   PMID:31211872   PMID:31215469   PMID:31221981   PMID:31240524   PMID:31257503  
PMID:31292202   PMID:31388669   PMID:31436131   PMID:31478653   PMID:31479414   PMID:31504231   PMID:31531788   PMID:31536960   PMID:31542863   PMID:31548295   PMID:31566052   PMID:31591388  
PMID:31607296   PMID:31609487   PMID:31615936   PMID:31685963   PMID:31706195   PMID:31727977   PMID:31740784   PMID:31741126   PMID:31746408   PMID:31768950   PMID:31806013   PMID:31827136  
PMID:31846689   PMID:31876581   PMID:31888670   PMID:31897644   PMID:31905004   PMID:31957551   PMID:31960234   PMID:31960518   PMID:31980649   PMID:31983120   PMID:31983428   PMID:32005184  
PMID:32027343   PMID:32107549   PMID:32146731   PMID:32212799   PMID:32218467   PMID:32222932   PMID:32227259   PMID:32291392   PMID:32293336   PMID:32312817   PMID:32329690   PMID:32333643  
PMID:32373065   PMID:32382048   PMID:32417712   PMID:32462389   PMID:32513696   PMID:32546647   PMID:32559177   PMID:32563269   PMID:32620753   PMID:32678261   PMID:32687490   PMID:32705169  
PMID:32727816   PMID:32729303   PMID:32732488   PMID:32748499   PMID:32777735   PMID:32785780   PMID:32814053   PMID:32851059   PMID:32856857   PMID:32883741   PMID:32888020   PMID:32891974  
PMID:32915415   PMID:32921406   PMID:32948843   PMID:32950635   PMID:32955829   PMID:32963011   PMID:32965568   PMID:32978444   PMID:33022573   PMID:33066633   PMID:33070553   PMID:33115694  
PMID:33119202   PMID:33121211   PMID:33137656   PMID:33146694   PMID:33163535   PMID:33179832   PMID:33180422   PMID:33205355   PMID:33222488   PMID:33226123   PMID:33228806   PMID:33248711  
PMID:33289434   PMID:33342816   PMID:33433055   PMID:33468990   PMID:33494038   PMID:33504762   PMID:33550363   PMID:33631386   PMID:33641074   PMID:33649794   PMID:33709779   PMID:33740099  
PMID:33760141   PMID:33767315   PMID:33832922   PMID:33845483   PMID:33860275   PMID:33865962   PMID:33868245   PMID:33887545   PMID:33916271   PMID:33929516   PMID:33941203   PMID:33951927  
PMID:33961781   PMID:34000245   PMID:34020723   PMID:34078652   PMID:34083508   PMID:34085407   PMID:34087795   PMID:34088969   PMID:34095989   PMID:34098063   PMID:34131315   PMID:34145795  
PMID:34146775   PMID:34153064   PMID:34162262   PMID:34173104   PMID:34250753   PMID:34269949   PMID:34289936   PMID:34312925   PMID:34348994   PMID:34389754   PMID:34413349   PMID:34440884  
PMID:34506909   PMID:34516556   PMID:34517083   PMID:34571995   PMID:34591612   PMID:34635569   PMID:34651186   PMID:34695176   PMID:34732716   PMID:34761718   PMID:34767259   PMID:34790172  
PMID:34814054   PMID:34854890   PMID:34871733   PMID:34933728   PMID:34941573   PMID:34946913   PMID:34967233   PMID:34969742   PMID:34997121   PMID:35005992   PMID:35018778   PMID:35028610  
PMID:35031058   PMID:35058510   PMID:35076759   PMID:35143931   PMID:35198082   PMID:35256949   PMID:35262523   PMID:35271311   PMID:35345371   PMID:35348814   PMID:35351982   PMID:35381077  
PMID:35398668   PMID:35419733   PMID:35446349   PMID:35486703   PMID:35509820   PMID:35551192   PMID:35562734   PMID:35611837   PMID:35628596   PMID:35738587   PMID:35779193   PMID:35831314  
PMID:35856894   PMID:35866817   PMID:35934766   PMID:35944360   PMID:35970853   PMID:35991838   PMID:35996504   PMID:36011350   PMID:36064577   PMID:36091049   PMID:36182816   PMID:36201590  
PMID:36215168   PMID:36222845   PMID:36225252   PMID:36335135   PMID:36346441   PMID:36352183   PMID:36355448   PMID:36355572   PMID:36377597   PMID:36389748   PMID:36411356   PMID:36420802  
PMID:36459762   PMID:36493529   PMID:36517590   PMID:36580017   PMID:36601689   PMID:36630991   PMID:36694322   PMID:36739454   PMID:36757619   PMID:36828361   PMID:36974551   PMID:37054988  
PMID:37070826   PMID:37086156   PMID:37120454   PMID:37185778   PMID:37212470   PMID:37222229   PMID:37267108   PMID:37271257   PMID:37324278   PMID:37343523   PMID:37478088   PMID:37558923  
PMID:37561356   PMID:37585633   PMID:37712275   PMID:37716816   PMID:37737691   PMID:37743332   PMID:37774069   PMID:37812786   PMID:37827155   PMID:37880243   PMID:37952042   PMID:37988281  
PMID:38117484   PMID:38134710   PMID:38135816   PMID:38168519   PMID:38183430  


Genomics

Comparative Map Data
IDH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382208,236,227 - 208,255,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2208,236,229 - 208,266,074 (-)EnsemblGRCh38hg38GRCh38
GRCh372209,100,951 - 209,119,795 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362208,809,198 - 208,828,051 (-)NCBINCBI36Build 36hg18NCBI36
Build 342208,926,459 - 208,945,312NCBI
Celera2202,868,863 - 202,887,731 (-)NCBICelera
Cytogenetic Map2q34NCBI
HuRef2200,949,019 - 200,967,890 (-)NCBIHuRef
CHM1_12209,106,806 - 209,125,662 (-)NCBICHM1_1
T2T-CHM13v2.02208,716,002 - 208,734,866 (-)NCBIT2T-CHM13v2.0
Idh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39165,197,775 - 65,225,638 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl165,197,775 - 65,225,659 (-)EnsemblGRCm39 Ensembl
GRCm38165,158,616 - 65,186,479 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,158,616 - 65,186,500 (-)EnsemblGRCm38mm10GRCm38
MGSCv37165,205,190 - 65,233,053 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,092,904 - 65,113,390 (-)NCBIMGSCv36mm8
Celera165,649,214 - 65,677,085 (-)NCBICelera
Cytogenetic Map1C2- C3NCBI
cM Map132.91NCBI
Idh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8974,027,887 - 74,057,442 (-)NCBIGRCr8
mRatBN7.2966,534,146 - 66,563,703 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl966,534,146 - 66,563,708 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx975,040,843 - 75,062,176 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0980,176,139 - 80,197,291 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0978,586,353 - 78,607,819 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0971,882,108 - 71,911,645 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl971,882,105 - 71,900,044 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0970,660,443 - 70,689,968 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4963,769,401 - 63,790,622 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1963,916,382 - 63,937,604 (-)NCBI
Celera963,929,810 - 63,951,008 (-)NCBICelera
Cytogenetic Map9q32NCBI
Idh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554576,851,517 - 6,872,367 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554576,851,542 - 6,869,452 (+)NCBIChiLan1.0ChiLan1.0
IDH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213110,846,026 - 110,865,064 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B110,861,000 - 110,891,100 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B95,475,320 - 95,494,286 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B213,599,036 - 213,628,840 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B213,599,036 - 213,617,175 (-)Ensemblpanpan1.1panPan2
IDH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13716,512,027 - 16,531,269 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3716,512,770 - 16,531,219 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3717,394,694 - 17,413,933 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03716,447,690 - 16,466,938 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3716,447,695 - 16,466,985 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13716,391,770 - 16,406,979 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03716,365,144 - 16,384,346 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03716,374,393 - 16,393,573 (-)NCBIUU_Cfam_GSD_1.0
Idh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303164,878,089 - 164,892,414 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936950334,934 - 348,363 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936950334,894 - 349,221 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IDH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15111,341,153 - 111,362,296 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115111,341,153 - 111,362,330 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215122,861,672 - 122,883,887 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IDH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11094,021,002 - 94,039,997 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1094,020,818 - 94,039,975 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040105,331,403 - 105,350,750 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Idh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247657,806,560 - 7,825,520 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IDH1
367 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:208179265-209331482)x1 copy number loss See cases [RCV000052608] Chr2:208179265..209331482 [GRCh38]
Chr2:209043989..210196206 [GRCh37]
Chr2:208752234..209904451 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_005896.3(IDH1):c.939C>T (p.Thr313=) single nucleotide variant Malignant melanoma [RCV000065380] Chr2:208239915 [GRCh38]
Chr2:209104639 [GRCh37]
Chr2:208812884 [NCBI36]
Chr2:2q34		 not provided
NM_005896.4(IDH1):c.94T>G (p.Phe32Val) single nucleotide variant IDH1-related condition [RCV003945077]|not provided [RCV000963114]|not specified [RCV000121202] Chr2:208251458 [GRCh38]
Chr2:209116182 [GRCh37]
Chr2:2q34		 likely benign|not provided
NM_005896.4(IDH1):c.211G>A (p.Val71Ile) single nucleotide variant not provided [RCV000962004]|not specified [RCV000121203] Chr2:208248572 [GRCh38]
Chr2:209113296 [GRCh37]
Chr2:2q34		 benign|not provided
NM_005896.4(IDH1):c.548A>G (p.Tyr183Cys) single nucleotide variant IDH1-related condition [RCV003975075]|not provided [RCV003430677]|not specified [RCV000121204] Chr2:208243577 [GRCh38]
Chr2:209108301 [GRCh37]
Chr2:2q34		 benign|not provided
NM_005896.4(IDH1):c.565A>G (p.Ile189Val) single nucleotide variant Enchondromatosis [RCV002467575]|not specified [RCV000121205] Chr2:208243560 [GRCh38]
Chr2:209108284 [GRCh37]
Chr2:2q34		 likely pathogenic|not provided
NM_005896.4(IDH1):c.659A>G (p.Asp220Gly) single nucleotide variant not specified [RCV000121206] Chr2:208243466 [GRCh38]
Chr2:209108190 [GRCh37]
Chr2:2q34		 not provided
NM_005896.4(IDH1):c.532G>A (p.Val178Ile) single nucleotide variant not provided [RCV001650980]|not specified [RCV000121207] Chr2:208243593 [GRCh38]
Chr2:209108317 [GRCh37]
Chr2:2q34		 benign|not provided
NM_005896.4(IDH1):c.665G>T (p.Arg222Leu) single nucleotide variant not specified [RCV000121208] Chr2:208243460 [GRCh38]
Chr2:209108184 [GRCh37]
Chr2:2q34		 not provided
NM_005896.4(IDH1):c.622T>C (p.Tyr208His) single nucleotide variant not specified [RCV000121209] Chr2:208243503 [GRCh38]
Chr2:209108227 [GRCh37]
Chr2:2q34		 not provided
NM_005896.4(IDH1):c.395G>A (p.Arg132His) single nucleotide variant Acute myeloid leukemia [RCV000429987]|Adenoid cystic carcinoma [RCV000427239]|Astrocytoma [RCV000442517]|Brainstem glioma [RCV000422344]|Breast neoplasm [RCV000441845]|Enchondromatosis [RCV002227447]|Glioblastoma [RCV000445280]|Glioblastoma multiforme, somatic [RCV000144504]|Glioma susceptibility 1 [RCV001542733]|Hepatocellular carcinoma [RCV000420454]|Lung adenocarcinoma [RCV000439554]|Malignant melanoma of skin [RCV000433068]|Medulloblastoma [RCV000423408]|Metaphyseal chondromatosis [RCV003387509]|Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria [RCV000853347]|Multiple myeloma [RCV000440637]|Myelodysplastic syndrome [RCV000421389]|Neoplasm of brain [RCV000428884]|Neoplasm of the large intestine [RCV000431117]|Oligodendroglioma [RCV000423229]|Prostate adenocarcinoma [RCV000432047]|Transitional cell carcinoma of the bladder [RCV000419255]|not provided [RCV001269510] Chr2:208248388 [GRCh38]
Chr2:209113112 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic|not provided
NM_005896.4(IDH1):c.839C>T (p.Ser280Phe) single nucleotide variant Acute myeloid leukemia [RCV001290413] Chr2:208242005 [GRCh38]
Chr2:209106729 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207949648-208438066)x1 copy number loss See cases [RCV000137082] Chr2:207949648..208438066 [GRCh38]
Chr2:208814372..209302791 [GRCh37]
Chr2:208522617..209011036 [NCBI36]
Chr2:2q33.3-34		 uncertain significance
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1 copy number loss See cases [RCV000139325] Chr2:207058886..211245603 [GRCh38]
Chr2:207923610..212110328 [GRCh37]
Chr2:207631855..211818573 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1 copy number loss See cases [RCV000139629] Chr2:204906843..210031449 [GRCh38]
Chr2:205771566..210896173 [GRCh37]
Chr2:205479811..210604418 [NCBI36]
Chr2:2q33.3-34		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
NM_005896.4(IDH1):c.798C>G (p.Ile266Met) single nucleotide variant Inborn genetic diseases [RCV003311272] Chr2:208242046 [GRCh38]
Chr2:209106770 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.395G>C (p.Arg132Pro) single nucleotide variant Acute myeloid leukemia [RCV000437616] Chr2:208248388 [GRCh38]
Chr2:209113112 [GRCh37]
Chr2:2q34		 pathogenic
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly) single nucleotide variant Acute myeloid leukemia [RCV000434778]|Adenoid cystic carcinoma [RCV000425039]|Brainstem glioma [RCV000440922]|Breast neoplasm [RCV000427882]|Glioblastoma [RCV000437708]|Hepatocellular carcinoma [RCV000417625]|Lung adenocarcinoma [RCV000442058]|Malignant melanoma of skin [RCV000436387]|Medulloblastoma [RCV000419742]|Multiple myeloma [RCV000418685]|Myelodysplastic syndrome [RCV000444712]|Neoplasm of brain [RCV000424071]|Neoplasm of the large intestine [RCV000428941]|Prostate adenocarcinoma [RCV000435299]|Transitional cell carcinoma of the bladder [RCV000427476] Chr2:208248389 [GRCh38]
Chr2:209113113 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) single nucleotide variant Acute myeloid leukemia [RCV000440287]|Adenoid cystic carcinoma [RCV000418324]|Astrocytoma [RCV000430064]|Brainstem glioma [RCV000424724]|Breast neoplasm [RCV000431514]|Glioblastoma [RCV000435988]|Hepatocellular carcinoma [RCV000424342]|Lung adenocarcinoma [RCV000432144]|Malignant melanoma of skin [RCV000445051]|Medulloblastoma [RCV000425839]|Multiple myeloma [RCV000441330]|Myelodysplastic syndrome [RCV000437066]|Neoplasm of brain [RCV000434628]|Neoplasm of the large intestine [RCV000426812]|Prostate adenocarcinoma [RCV000423616]|Transitional cell carcinoma of the bladder [RCV000442342]|not provided [RCV003884519] Chr2:208248389 [GRCh38]
Chr2:209113113 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) single nucleotide variant Acute myeloid leukemia [RCV000445302]|Adenoid cystic carcinoma [RCV000435816]|Astrocytoma [RCV000421691]|Brainstem glioma [RCV000438918]|Breast neoplasm [RCV000420988]|Enchondromatosis [RCV002227473]|Enchondromatosis [RCV002291276]|Glioblastoma [RCV000439965]|Glioma susceptibility 1 [RCV003323531]|Hepatocellular carcinoma [RCV000426141]|Lung adenocarcinoma [RCV000419656]|Maffucci syndrome [RCV003458426]|Malignant melanoma of skin [RCV000430360]|Medulloblastoma [RCV000428207]|Multiple myeloma [RCV000429279]|Myelodysplastic syndrome [RCV000441917]|Neoplasm of brain [RCV000418601]|Neoplasm of the large intestine [RCV000436904]|Prostate adenocarcinoma [RCV000437909]|Transitional cell carcinoma of the bladder [RCV000434107]|not provided [RCV000997650] Chr2:208248389 [GRCh38]
Chr2:209113113 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu) single nucleotide variant Acute myeloid leukemia [RCV000424309]|Adenoid cystic carcinoma [RCV000445003]|Brainstem glioma [RCV000441571]|Breast neoplasm [RCV000440464]|Glioblastoma [RCV000425475]|Hepatocellular carcinoma [RCV000442225]|Lung adenocarcinoma [RCV000432682]|Malignant melanoma of skin [RCV000430835]|Medulloblastoma [RCV000425224]|Multiple myeloma [RCV000435256]|Myelodysplastic syndrome [RCV000418043]|Neoplasm of brain [RCV000433285]|Neoplasm of the large intestine [RCV000423104]|Prostate adenocarcinoma [RCV000433807]|Transitional cell carcinoma of the bladder [RCV000424554] Chr2:208248388 [GRCh38]
Chr2:209113112 [GRCh37]
Chr2:2q34		 pathogenic|likely pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_005896.4(IDH1):c.315C>T (p.Gly105=) single nucleotide variant not provided [RCV001613273]|not specified [RCV000454437] Chr2:208248468 [GRCh38]
Chr2:209113192 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005896.4(IDH1):c.261G>A (p.Lys87=) single nucleotide variant Inborn genetic diseases [RCV003300992] Chr2:208248522 [GRCh38]
Chr2:209113246 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.537C>A (p.Ala179=) single nucleotide variant Inborn genetic diseases [RCV003300993] Chr2:208243588 [GRCh38]
Chr2:209108312 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1138A>G (p.Ile380Val) single nucleotide variant Inborn genetic diseases [RCV003278542] Chr2:208239087 [GRCh38]
Chr2:209103811 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.976T>C (p.Ser326Pro) single nucleotide variant Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype [RCV003313766] Chr2:208239878 [GRCh38]
Chr2:209104602 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.492G>A (p.Lys164=) single nucleotide variant Inborn genetic diseases [RCV003278539] Chr2:208245347 [GRCh38]
Chr2:209110071 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.246G>A (p.Arg82=) single nucleotide variant Inborn genetic diseases [RCV003278540] Chr2:208248537 [GRCh38]
Chr2:209113261 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.485C>G (p.Thr162Ser) single nucleotide variant Inborn genetic diseases [RCV003311269] Chr2:208245354 [GRCh38]
Chr2:209110078 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.252G>A (p.Glu84=) single nucleotide variant Inborn genetic diseases [RCV003311273] Chr2:208248531 [GRCh38]
Chr2:209113255 [GRCh37]
Chr2:2q34		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005896.4(IDH1):c.102C>T (p.Tyr34=) single nucleotide variant Inborn genetic diseases [RCV002382080]|not provided [RCV000917412] Chr2:208251450 [GRCh38]
Chr2:209116174 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.676A>G (p.Ile226Val) single nucleotide variant Diffuse midline glioma, H3 K27-altered [RCV003315273] Chr2:208243449 [GRCh38]
Chr2:209108173 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.890G>T (p.Cys297Phe) single nucleotide variant Paroxysmal extreme pain disorder [RCV001647346] Chr2:208239964 [GRCh38]
Chr2:209104688 [GRCh37]
Chr2:2q34		 likely pathogenic
NM_005896.4(IDH1):c.234T>C (p.Pro78=) single nucleotide variant Inborn genetic diseases [RCV002445141]|not provided [RCV000983659] Chr2:208248549 [GRCh38]
Chr2:209113273 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.366T>C (p.Ser122=) single nucleotide variant Inborn genetic diseases [RCV002454156]|not provided [RCV000940520] Chr2:208248417 [GRCh38]
Chr2:209113141 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.975G>A (p.Thr325=) single nucleotide variant Inborn genetic diseases [RCV002382079]|not provided [RCV000916222] Chr2:208239879 [GRCh38]
Chr2:209104603 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1155-5G>A single nucleotide variant not provided [RCV000920445] Chr2:208237174 [GRCh38]
Chr2:209101898 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.525T>C (p.Gly175=) single nucleotide variant Inborn genetic diseases [RCV002336880]|not provided [RCV000896468] Chr2:208243600 [GRCh38]
Chr2:209108324 [GRCh37]
Chr2:2q34		 likely benign
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
NM_005896.4(IDH1):c.951C>T (p.Arg317=) single nucleotide variant Inborn genetic diseases [RCV003311274] Chr2:208239903 [GRCh38]
Chr2:209104627 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.661G>C (p.Gly221Arg) single nucleotide variant Inborn genetic diseases [RCV003311270] Chr2:208243464 [GRCh38]
Chr2:209108188 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1158G>A (p.Val386=) single nucleotide variant Inborn genetic diseases [RCV003311271] Chr2:208237166 [GRCh38]
Chr2:209101890 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.784G>A (p.Glu262Lys) single nucleotide variant Lymphoma [RCV000790855] Chr2:208242060 [GRCh38]
Chr2:209106784 [GRCh37]
Chr2:2q34		 uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_005896.4(IDH1):c.123-4C>T single nucleotide variant IDH1-related condition [RCV003916113]|not provided [RCV000963113] Chr2:208248664 [GRCh38]
Chr2:209113388 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not provided [RCV000847666] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q33.3-34(chr2:208965516-209396109)x3 copy number gain not provided [RCV001005372] Chr2:208965516..209396109 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q34(chr2:209055235-209503614)x3 copy number gain not provided [RCV000849526] Chr2:209055235..209503614 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208956981-209383510)x3 copy number gain not provided [RCV000847075] Chr2:208956981..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
NM_005896.4(IDH1):c.272T>C (p.Met91Thr) single nucleotide variant Inborn genetic diseases [RCV003247437] Chr2:208248511 [GRCh38]
Chr2:209113235 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.415-141_415-139dup duplication not provided [RCV001721869] Chr2:208245546..208245547 [GRCh38]
Chr2:209110270..209110271 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.1155-225_1155-224insGA insertion not provided [RCV001679330] Chr2:208237393..208237394 [GRCh38]
Chr2:209102117..209102118 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.1154+300C>T single nucleotide variant not provided [RCV001614184] Chr2:208238771 [GRCh38]
Chr2:209103495 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-123del deletion not provided [RCV001652554] Chr2:208245547 [GRCh38]
Chr2:209110271 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-4A>G single nucleotide variant IDH1-related condition [RCV003936028]|not provided [RCV000966840] Chr2:208245428 [GRCh38]
Chr2:209110152 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.699-6T>C single nucleotide variant IDH1-related condition [RCV003978398]|not provided [RCV000963112] Chr2:208242151 [GRCh38]
Chr2:209106875 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.456A>G (p.Val152=) single nucleotide variant IDH1-related condition [RCV003906043]|Inborn genetic diseases [RCV002337012]|not provided [RCV000972583] Chr2:208245383 [GRCh38]
Chr2:209110107 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.708G>A (p.Lys236=) single nucleotide variant Inborn genetic diseases [RCV002363334]|not provided [RCV000889541] Chr2:208242136 [GRCh38]
Chr2:209106860 [GRCh37]
Chr2:2q34		 benign|likely benign
NM_005896.4(IDH1):c.992-273T>C single nucleotide variant not provided [RCV001621203] Chr2:208239506 [GRCh38]
Chr2:209104230 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.699-241C>A single nucleotide variant not provided [RCV001675386] Chr2:208242386 [GRCh38]
Chr2:209107110 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-238A>G single nucleotide variant not provided [RCV001721913] Chr2:208245662 [GRCh38]
Chr2:209110386 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-141_415-140dup duplication not provided [RCV001674326] Chr2:208245546..208245547 [GRCh38]
Chr2:209110270..209110271 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-141_415-138dup duplication not provided [RCV001682038] Chr2:208245546..208245547 [GRCh38]
Chr2:209110270..209110271 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.122+166dup duplication not provided [RCV001710747] Chr2:208251254..208251255 [GRCh38]
Chr2:209115978..209115979 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.122+105G>A single nucleotide variant not provided [RCV001679233] Chr2:208251325 [GRCh38]
Chr2:209116049 [GRCh37]
Chr2:2q34		 benign
NM_005896.4(IDH1):c.415-141dup duplication not provided [RCV001680533] Chr2:208245546..208245547 [GRCh38]
Chr2:209110270..209110271 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_005896.4(IDH1):c.520+27dup duplication not provided [RCV001671829] Chr2:208245282..208245283 [GRCh38]
Chr2:209110006..209110007 [GRCh37]
Chr2:2q34		 benign
GRCh37/hg19 2q33.3-34(chr2:208801409-209164383) copy number gain not specified [RCV002053277] Chr2:208801409..209164383 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NC_000002.11:g.(?_208986397)_(209220029_?)del deletion not provided [RCV003119473] Chr2:208986397..209220029 [GRCh37]
Chr2:2q33.3-34		 pathogenic
NM_005896.4(IDH1):c.616C>G (p.Pro206Ala) single nucleotide variant Inborn genetic diseases [RCV003278541] Chr2:208243509 [GRCh38]
Chr2:209108233 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.262T>A (p.Leu88Met) single nucleotide variant Inborn genetic diseases [RCV003278543] Chr2:208248521 [GRCh38]
Chr2:209113245 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.282A>G (p.Ser94=) single nucleotide variant Inborn genetic diseases [RCV002435079] Chr2:208248501 [GRCh38]
Chr2:209113225 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.799T>C (p.Trp267Arg) single nucleotide variant Inborn genetic diseases [RCV002419131] Chr2:208242045 [GRCh38]
Chr2:209106769 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.387C>G (p.Ile129Met) single nucleotide variant Inborn genetic diseases [RCV002366293] Chr2:208248396 [GRCh38]
Chr2:209113120 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.954G>A (p.Met318Ile) single nucleotide variant Inborn genetic diseases [RCV002385179] Chr2:208239900 [GRCh38]
Chr2:209104624 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.38T>C (p.Met13Thr) single nucleotide variant Inborn genetic diseases [RCV002366407] Chr2:208251514 [GRCh38]
Chr2:209116238 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.798C>T (p.Ile266=) single nucleotide variant Inborn genetic diseases [RCV002419074] Chr2:208242046 [GRCh38]
Chr2:209106770 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.622T>G (p.Tyr208Asp) single nucleotide variant Inborn genetic diseases [RCV002366571] Chr2:208243503 [GRCh38]
Chr2:209108227 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.337A>G (p.Ile113Val) single nucleotide variant Inborn genetic diseases [RCV002451808] Chr2:208248446 [GRCh38]
Chr2:209113170 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.665G>A (p.Arg222His) single nucleotide variant Inborn genetic diseases [RCV002366894] Chr2:208243460 [GRCh38]
Chr2:209108184 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.114T>C (p.Asp38=) single nucleotide variant Inborn genetic diseases [RCV002452678] Chr2:208251438 [GRCh38]
Chr2:209116162 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.714G>A (p.Gln238=) single nucleotide variant Inborn genetic diseases [RCV002367530] Chr2:208242130 [GRCh38]
Chr2:209106854 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.714G>T (p.Gln238His) single nucleotide variant Inborn genetic diseases [RCV002367532] Chr2:208242130 [GRCh38]
Chr2:209106854 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.627G>C (p.Leu209=) single nucleotide variant Inborn genetic diseases [RCV002368686] Chr2:208243498 [GRCh38]
Chr2:209108222 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.7A>C (p.Lys3Gln) single nucleotide variant Inborn genetic diseases [RCV002419158] Chr2:208251545 [GRCh38]
Chr2:209116269 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.813C>T (p.Asn271=) single nucleotide variant Inborn genetic diseases [RCV002421362] Chr2:208242031 [GRCh38]
Chr2:209106755 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.989T>C (p.Ile330Thr) single nucleotide variant Inborn genetic diseases [RCV002387436] Chr2:208239865 [GRCh38]
Chr2:209104589 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.741G>A (p.Glu247=) single nucleotide variant Inborn genetic diseases [RCV002384980] Chr2:208242103 [GRCh38]
Chr2:209106827 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.511A>G (p.Asn171Asp) single nucleotide variant Inborn genetic diseases [RCV002351533] Chr2:208245328 [GRCh38]
Chr2:209110052 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.808A>G (p.Lys270Glu) single nucleotide variant Inborn genetic diseases [RCV002419415] Chr2:208242036 [GRCh38]
Chr2:209106760 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.959A>C (p.Gln320Pro) single nucleotide variant Inborn genetic diseases [RCV002385265] Chr2:208239895 [GRCh38]
Chr2:209104619 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1220T>A (p.Ile407Asn) single nucleotide variant Inborn genetic diseases [RCV002368988] Chr2:208237104 [GRCh38]
Chr2:209101828 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.258C>G (p.Phe86Leu) single nucleotide variant Inborn genetic diseases [RCV002437088] Chr2:208248525 [GRCh38]
Chr2:209113249 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.957C>T (p.Tyr319=) single nucleotide variant Inborn genetic diseases [RCV002385230] Chr2:208239897 [GRCh38]
Chr2:209104621 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.110T>C (p.Leu37Ser) single nucleotide variant Inborn genetic diseases [RCV002437370] Chr2:208251442 [GRCh38]
Chr2:209116166 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.269A>G (p.Gln90Arg) single nucleotide variant Inborn genetic diseases [RCV002437378] Chr2:208248514 [GRCh38]
Chr2:209113238 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.66T>C (p.Ile22=) single nucleotide variant Inborn genetic diseases [RCV002367164] Chr2:208251486 [GRCh38]
Chr2:209116210 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.202A>G (p.Asn68Asp) single nucleotide variant Inborn genetic diseases [RCV002419754] Chr2:208248581 [GRCh38]
Chr2:209113305 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.552T>A (p.Asn184Lys) single nucleotide variant Inborn genetic diseases [RCV002351827] Chr2:208243573 [GRCh38]
Chr2:209108297 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.675C>T (p.Asp225=) single nucleotide variant Inborn genetic diseases [RCV002369259] Chr2:208243450 [GRCh38]
Chr2:209108174 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.626T>A (p.Leu209Gln) single nucleotide variant Inborn genetic diseases [RCV002368655] Chr2:208243499 [GRCh38]
Chr2:209108223 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1075T>C (p.Leu359=) single nucleotide variant Inborn genetic diseases [RCV002419802] Chr2:208239150 [GRCh38]
Chr2:209103874 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1111T>A (p.Phe371Ile) single nucleotide variant Inborn genetic diseases [RCV002437510] Chr2:208239114 [GRCh38]
Chr2:209103838 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.985C>T (p.Pro329Ser) single nucleotide variant Inborn genetic diseases [RCV002387326] Chr2:208239869 [GRCh38]
Chr2:209104593 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.546G>C (p.Met182Ile) single nucleotide variant Inborn genetic diseases [RCV002349782] Chr2:208243579 [GRCh38]
Chr2:209108303 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.288T>C (p.Asn96=) single nucleotide variant Inborn genetic diseases [RCV002437915] Chr2:208248495 [GRCh38]
Chr2:209113219 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1192A>G (p.Met398Val) single nucleotide variant Inborn genetic diseases [RCV002351458] Chr2:208237132 [GRCh38]
Chr2:209101856 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1002T>C (p.Phe334=) single nucleotide variant Inborn genetic diseases [RCV003300994] Chr2:208239223 [GRCh38]
Chr2:209103947 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.339C>T (p.Ile113=) single nucleotide variant Inborn genetic diseases [RCV003300996] Chr2:208248444 [GRCh38]
Chr2:209113168 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.169A>C (p.Thr57Pro) single nucleotide variant Inborn genetic diseases [RCV002414683] Chr2:208248614 [GRCh38]
Chr2:209113338 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.537C>T (p.Ala179=) single nucleotide variant Inborn genetic diseases [RCV002347110] Chr2:208243588 [GRCh38]
Chr2:209108312 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.567T>G (p.Ile189Met) single nucleotide variant Inborn genetic diseases [RCV002347429] Chr2:208243558 [GRCh38]
Chr2:209108282 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1005C>T (p.Ala335=) single nucleotide variant Inborn genetic diseases [RCV002415225] Chr2:208239220 [GRCh38]
Chr2:209103944 [GRCh37]
Chr2:2q34		 likely benign
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_005896.4(IDH1):c.187G>C (p.Ala63Pro) single nucleotide variant Inborn genetic diseases [RCV002415285] Chr2:208248596 [GRCh38]
Chr2:209113320 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.493G>A (p.Val165Met) single nucleotide variant Inborn genetic diseases [RCV002342680] Chr2:208245346 [GRCh38]
Chr2:209110070 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.792C>T (p.Gly264=) single nucleotide variant Inborn genetic diseases [RCV002416776] Chr2:208242052 [GRCh38]
Chr2:209106776 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.438T>C (p.Val146=) single nucleotide variant Inborn genetic diseases [RCV002333644] Chr2:208245401 [GRCh38]
Chr2:209110125 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.803C>A (p.Ala268Asp) single nucleotide variant Inborn genetic diseases [RCV002412434] Chr2:208242041 [GRCh38]
Chr2:209106765 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1206A>G (p.Gly402=) single nucleotide variant Inborn genetic diseases [RCV002345116] Chr2:208237118 [GRCh38]
Chr2:209101842 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.647T>C (p.Leu216Pro) single nucleotide variant Inborn genetic diseases [RCV002356204] Chr2:208243478 [GRCh38]
Chr2:209108202 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.608A>G (p.Lys203Arg) single nucleotide variant Inborn genetic diseases [RCV002360039] Chr2:208243517 [GRCh38]
Chr2:209108241 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.379C>T (p.Pro127Ser) single nucleotide variant Inborn genetic diseases [RCV002363943] Chr2:208248404 [GRCh38]
Chr2:209113128 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.211G>C (p.Val71Leu) single nucleotide variant Inborn genetic diseases [RCV002417606] Chr2:208248572 [GRCh38]
Chr2:209113296 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.950G>T (p.Arg317Leu) single nucleotide variant Inborn genetic diseases [RCV002374184] Chr2:208239904 [GRCh38]
Chr2:209104628 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1133C>G (p.Ala378Gly) single nucleotide variant Inborn genetic diseases [RCV002324653] Chr2:208239092 [GRCh38]
Chr2:209103816 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.718G>A (p.Glu240Lys) single nucleotide variant Inborn genetic diseases [RCV002370779] Chr2:208242126 [GRCh38]
Chr2:209106850 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.109T>C (p.Leu37=) single nucleotide variant Inborn genetic diseases [RCV002443934] Chr2:208251443 [GRCh38]
Chr2:209116167 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.422C>T (p.Ala141Val) single nucleotide variant Inborn genetic diseases [RCV002328094] Chr2:208245417 [GRCh38]
Chr2:209110141 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.293C>A (p.Thr98Asn) single nucleotide variant Inborn genetic diseases [RCV002440147] Chr2:208248490 [GRCh38]
Chr2:209113214 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1236C>G (p.Ala412=) single nucleotide variant Inborn genetic diseases [RCV002364981] Chr2:208237088 [GRCh38]
Chr2:209101812 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.727A>C (p.Lys243Gln) single nucleotide variant Inborn genetic diseases [RCV002382619] Chr2:208242117 [GRCh38]
Chr2:209106841 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.510T>A (p.His170Gln) single nucleotide variant Inborn genetic diseases [RCV002336034] Chr2:208245329 [GRCh38]
Chr2:209110053 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1176G>T (p.Leu392Phe) single nucleotide variant Inborn genetic diseases [RCV002328534] Chr2:208237148 [GRCh38]
Chr2:209101872 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1088C>T (p.Ser363Phe) single nucleotide variant Inborn genetic diseases [RCV002428319] Chr2:208239137 [GRCh38]
Chr2:209103861 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.900C>T (p.Gly300=) single nucleotide variant Inborn genetic diseases [RCV002376382] Chr2:208239954 [GRCh38]
Chr2:209104678 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.152C>A (p.Ala51Asp) single nucleotide variant Inborn genetic diseases [RCV002400845] Chr2:208248631 [GRCh38]
Chr2:209113355 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.571G>A (p.Asp191Asn) single nucleotide variant Inborn genetic diseases [RCV002347679] Chr2:208243554 [GRCh38]
Chr2:209108278 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1155T>C (p.Asn385=) single nucleotide variant Inborn genetic diseases [RCV002355363] Chr2:208237169 [GRCh38]
Chr2:209101893 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1045A>C (p.Asn349His) single nucleotide variant Inborn genetic diseases [RCV002405343] Chr2:208239180 [GRCh38]
Chr2:209103904 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.599C>G (p.Ala200Gly) single nucleotide variant Inborn genetic diseases [RCV002357922] Chr2:208243526 [GRCh38]
Chr2:209108250 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.662G>T (p.Gly221Val) single nucleotide variant Inborn genetic diseases [RCV002375907] Chr2:208243463 [GRCh38]
Chr2:209108187 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.852G>A (p.Gly284=) single nucleotide variant Inborn genetic diseases [RCV002447802] Chr2:208240002 [GRCh38]
Chr2:209104726 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.729G>A (p.Lys243=) single nucleotide variant Inborn genetic diseases [RCV002382735] Chr2:208242115 [GRCh38]
Chr2:209106839 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.876C>G (p.Thr292=) single nucleotide variant Inborn genetic diseases [RCV002373604] Chr2:208239978 [GRCh38]
Chr2:209104702 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1192A>T (p.Met398Leu) single nucleotide variant Inborn genetic diseases [RCV002335892] Chr2:208237132 [GRCh38]
Chr2:209101856 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.197A>G (p.Lys66Arg) single nucleotide variant Inborn genetic diseases [RCV002423645] Chr2:208248586 [GRCh38]
Chr2:209113310 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.927C>T (p.His309=) single nucleotide variant Inborn genetic diseases [RCV002371457] Chr2:208239927 [GRCh38]
Chr2:209104651 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.177T>C (p.Asp59=) single nucleotide variant Inborn genetic diseases [RCV002404071] Chr2:208248606 [GRCh38]
Chr2:209113330 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.724C>G (p.Gln242Glu) single nucleotide variant Inborn genetic diseases [RCV002371097] Chr2:208242120 [GRCh38]
Chr2:209106844 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1153A>G (p.Asn385Asp) single nucleotide variant Inborn genetic diseases [RCV002363809] Chr2:208239072 [GRCh38]
Chr2:209103796 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.949C>T (p.Arg317Cys) single nucleotide variant Inborn genetic diseases [RCV002374099] Chr2:208239905 [GRCh38]
Chr2:209104629 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.690A>C (p.Ile230=) single nucleotide variant Inborn genetic diseases [RCV002378076] Chr2:208243435 [GRCh38]
Chr2:209108159 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1015G>A (p.Gly339Arg) single nucleotide variant Inborn genetic diseases [RCV002330697] Chr2:208239210 [GRCh38]
Chr2:209103934 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.21C>T (p.Gly7=) single nucleotide variant Inborn genetic diseases [RCV002425699] Chr2:208251531 [GRCh38]
Chr2:209116255 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.480C>T (p.Asp160=) single nucleotide variant Inborn genetic diseases [RCV002337941] Chr2:208245359 [GRCh38]
Chr2:209110083 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.726A>G (p.Gln242=) single nucleotide variant Inborn genetic diseases [RCV002382568] Chr2:208242118 [GRCh38]
Chr2:209106842 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.827T>C (p.Val276Ala) single nucleotide variant Inborn genetic diseases [RCV002430241] Chr2:208242017 [GRCh38]
Chr2:209106741 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.834G>A (p.Ser278=) single nucleotide variant Inborn genetic diseases [RCV002434709] Chr2:208242010 [GRCh38]
Chr2:209106734 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.864C>T (p.Leu288=) single nucleotide variant Inborn genetic diseases [RCV002371218] Chr2:208239990 [GRCh38]
Chr2:209104714 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.882G>C (p.Val294=) single nucleotide variant Inborn genetic diseases [RCV002373775] Chr2:208239972 [GRCh38]
Chr2:209104696 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.91A>G (p.Ile31Val) single nucleotide variant Inborn genetic diseases [RCV002378951] Chr2:208251461 [GRCh38]
Chr2:209116185 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.998T>G (p.Ile333Ser) single nucleotide variant Inborn genetic diseases [RCV002383044] Chr2:208239227 [GRCh38]
Chr2:209103951 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1218G>A (p.Lys406=) single nucleotide variant Inborn genetic diseases [RCV002353885] Chr2:208237106 [GRCh38]
Chr2:209101830 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1023C>T (p.Ala341=) single nucleotide variant Inborn genetic diseases [RCV002371354] Chr2:208239202 [GRCh38]
Chr2:209103926 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1035G>A (p.Lys345=) single nucleotide variant Inborn genetic diseases [RCV002391994] Chr2:208239190 [GRCh38]
Chr2:209103914 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1144G>T (p.Gly382Cys) single nucleotide variant Inborn genetic diseases [RCV002459253] Chr2:208239081 [GRCh38]
Chr2:209103805 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.606T>C (p.Ser202=) single nucleotide variant Inborn genetic diseases [RCV002358379] Chr2:208243519 [GRCh38]
Chr2:209108243 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.963A>G (p.Lys321=) single nucleotide variant Inborn genetic diseases [RCV002376478] Chr2:208239891 [GRCh38]
Chr2:209104615 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1233G>A (p.Gln411=) single nucleotide variant Inborn genetic diseases [RCV002362421] Chr2:208237091 [GRCh38]
Chr2:209101815 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.839C>G (p.Ser280Cys) single nucleotide variant Inborn genetic diseases [RCV002434877] Chr2:208242005 [GRCh38]
Chr2:209106729 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.940C>G (p.Arg314Gly) single nucleotide variant Inborn genetic diseases [RCV002373960] Chr2:208239914 [GRCh38]
Chr2:209104638 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.674A>T (p.Asp225Val) single nucleotide variant Inborn genetic diseases [RCV002377954] Chr2:208243451 [GRCh38]
Chr2:209108175 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.866G>C (p.Gly289Ala) single nucleotide variant Inborn genetic diseases [RCV002449669] Chr2:208239988 [GRCh38]
Chr2:209104712 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.730A>G (p.Ile244Val) single nucleotide variant Inborn genetic diseases [RCV002380037] Chr2:208242114 [GRCh38]
Chr2:209106838 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.252G>C (p.Glu84Asp) single nucleotide variant Inborn genetic diseases [RCV002433142] Chr2:208248531 [GRCh38]
Chr2:209113255 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.780A>T (p.Lys260Asn) single nucleotide variant Inborn genetic diseases [RCV002409933] Chr2:208242064 [GRCh38]
Chr2:209106788 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.945C>T (p.His315=) single nucleotide variant Inborn genetic diseases [RCV002374038] Chr2:208239909 [GRCh38]
Chr2:209104633 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1087T>G (p.Ser363Ala) single nucleotide variant Inborn genetic diseases [RCV002428192] Chr2:208239138 [GRCh38]
Chr2:209103862 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.691T>A (p.Tyr231Asn) single nucleotide variant Inborn genetic diseases [RCV002378106] Chr2:208243434 [GRCh38]
Chr2:209108158 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.903G>A (p.Lys301=) single nucleotide variant Inborn genetic diseases [RCV002378471] Chr2:208239951 [GRCh38]
Chr2:209104675 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.894A>G (p.Pro298=) single nucleotide variant Inborn genetic diseases [RCV002376194] Chr2:208239960 [GRCh38]
Chr2:209104684 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.386T>G (p.Ile129Ser) single nucleotide variant Inborn genetic diseases [RCV002355610] Chr2:208248397 [GRCh38]
Chr2:209113121 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.321C>T (p.Val107=) single nucleotide variant Inborn genetic diseases [RCV002445469] Chr2:208248462 [GRCh38]
Chr2:209113186 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.502C>T (p.Leu168=) single nucleotide variant Inborn genetic diseases [RCV002335618] Chr2:208245337 [GRCh38]
Chr2:209110061 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1137C>T (p.Cys379=) single nucleotide variant Inborn genetic diseases [RCV002326287] Chr2:208239088 [GRCh38]
Chr2:209103812 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1050A>G (p.Lys350=) single nucleotide variant Inborn genetic diseases [RCV002401333] Chr2:208239175 [GRCh38]
Chr2:209103899 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.112G>A (p.Asp38Asn) single nucleotide variant Inborn genetic diseases [RCV002320604] Chr2:208251440 [GRCh38]
Chr2:209116164 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.899G>A (p.Gly300Asp) single nucleotide variant Inborn genetic diseases [RCV002376309] Chr2:208239955 [GRCh38]
Chr2:209104679 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.69G>C (p.Trp23Cys) single nucleotide variant Inborn genetic diseases [RCV002378223] Chr2:208251483 [GRCh38]
Chr2:209116207 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.309G>A (p.Leu103=) single nucleotide variant Inborn genetic diseases [RCV002325913] Chr2:208248474 [GRCh38]
Chr2:209113198 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.837C>T (p.Asp279=) single nucleotide variant Inborn genetic diseases [RCV002434806] Chr2:208242007 [GRCh38]
Chr2:209106731 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.294C>G (p.Thr98=) single nucleotide variant Inborn genetic diseases [RCV002441833] Chr2:208248489 [GRCh38]
Chr2:209113213 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.63C>T (p.Ile21=) single nucleotide variant Inborn genetic diseases [RCV002361562] Chr2:208251489 [GRCh38]
Chr2:209116213 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.909A>G (p.Val303=) single nucleotide variant Inborn genetic diseases [RCV002378602] Chr2:208239945 [GRCh38]
Chr2:209104669 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.324C>T (p.Phe108=) single nucleotide variant Inborn genetic diseases [RCV002324876] Chr2:208248459 [GRCh38]
Chr2:209113183 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.208G>A (p.Gly70Ser) single nucleotide variant Inborn genetic diseases [RCV002424030] Chr2:208248575 [GRCh38]
Chr2:209113299 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.83A>G (p.Glu28Gly) single nucleotide variant Inborn genetic diseases [RCV002434892] Chr2:208251469 [GRCh38]
Chr2:209116193 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1089T>A (p.Ser363=) single nucleotide variant Inborn genetic diseases [RCV002443713] Chr2:208239136 [GRCh38]
Chr2:209103860 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.973A>G (p.Thr325Ala) single nucleotide variant Inborn genetic diseases [RCV002376747] Chr2:208239881 [GRCh38]
Chr2:209104605 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.189T>C (p.Ala63=) single nucleotide variant Inborn genetic diseases [RCV002408212] Chr2:208248594 [GRCh38]
Chr2:209113318 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.205G>A (p.Val69Ile) single nucleotide variant Inborn genetic diseases [RCV002421952] Chr2:208248578 [GRCh38]
Chr2:209113302 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1043A>G (p.Asn348Ser) single nucleotide variant Inborn genetic diseases [RCV002392573] Chr2:208239182 [GRCh38]
Chr2:209103906 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1131T>C (p.Ala377=) single nucleotide variant Inborn genetic diseases [RCV002322835] Chr2:208239094 [GRCh38]
Chr2:209103818 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.59G>T (p.Arg20Leu) single nucleotide variant Inborn genetic diseases [RCV002357957] Chr2:208251493 [GRCh38]
Chr2:209116217 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.159C>T (p.Asn53=) single nucleotide variant Inborn genetic diseases [RCV002398606] Chr2:208248624 [GRCh38]
Chr2:209113348 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.134G>T (p.Gly45Val) single nucleotide variant Inborn genetic diseases [RCV002387923] Chr2:208248649 [GRCh38]
Chr2:209113373 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.237T>C (p.Asp79=) single nucleotide variant Inborn genetic diseases [RCV002457881] Chr2:208248546 [GRCh38]
Chr2:209113270 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.732C>T (p.Ile244=) single nucleotide variant Inborn genetic diseases [RCV002380152] Chr2:208242112 [GRCh38]
Chr2:209106836 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1058C>A (p.Ala353Asp) single nucleotide variant Inborn genetic diseases [RCV002399299] Chr2:208239167 [GRCh38]
Chr2:209103891 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.595A>G (p.Met199Val) single nucleotide variant Inborn genetic diseases [RCV002356017] Chr2:208243530 [GRCh38]
Chr2:209108254 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.398A>T (p.His133Leu) single nucleotide variant Inborn genetic diseases [RCV002375569] Chr2:208248385 [GRCh38]
Chr2:209113109 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.489A>G (p.Gln163=) single nucleotide variant Inborn genetic diseases [RCV002340578] Chr2:208245350 [GRCh38]
Chr2:209110074 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.969G>A (p.Gln323=) single nucleotide variant Inborn genetic diseases [RCV002376617] Chr2:208239885 [GRCh38]
Chr2:209104609 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.484A>T (p.Thr162Ser) single nucleotide variant Inborn genetic diseases [RCV002340267] Chr2:208245355 [GRCh38]
Chr2:209110079 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.274T>C (p.Trp92Arg) single nucleotide variant Inborn genetic diseases [RCV002439363] Chr2:208248509 [GRCh38]
Chr2:209113233 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.274T>G (p.Trp92Gly) single nucleotide variant Inborn genetic diseases [RCV002439366] Chr2:208248509 [GRCh38]
Chr2:209113233 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.409G>A (p.Asp137Asn) single nucleotide variant Inborn genetic diseases [RCV002323307] Chr2:208248374 [GRCh38]
Chr2:209113098 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1099A>C (p.Ile367Leu) single nucleotide variant Inborn genetic diseases [RCV002450484] Chr2:208239126 [GRCh38]
Chr2:209103850 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.702G>C (p.Gln234His) single nucleotide variant Inborn genetic diseases [RCV002364927] Chr2:208242142 [GRCh38]
Chr2:209106866 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1047T>C (p.Asn349=) single nucleotide variant Inborn genetic diseases [RCV002398395] Chr2:208239178 [GRCh38]
Chr2:209103902 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.752T>C (p.Ile251Thr) single nucleotide variant Inborn genetic diseases [RCV002393883] Chr2:208242092 [GRCh38]
Chr2:209106816 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.603G>A (p.Leu201=) single nucleotide variant Inborn genetic diseases [RCV002358220] Chr2:208243522 [GRCh38]
Chr2:209108246 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.657T>C (p.Tyr219=) single nucleotide variant Inborn genetic diseases [RCV002375784] Chr2:208243468 [GRCh38]
Chr2:209108192 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.843G>A (p.Val281=) single nucleotide variant Inborn genetic diseases [RCV002445941] Chr2:208242001 [GRCh38]
Chr2:209106725 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.246G>C (p.Arg82Ser) single nucleotide variant Inborn genetic diseases [RCV002450600] Chr2:208248537 [GRCh38]
Chr2:209113261 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.582C>T (p.His194=) single nucleotide variant Inborn genetic diseases [RCV002353213] Chr2:208243543 [GRCh38]
Chr2:209108267 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.255G>A (p.Glu85=) single nucleotide variant Inborn genetic diseases [RCV002433380] Chr2:208248528 [GRCh38]
Chr2:209113252 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1086C>T (p.Val362=) single nucleotide variant Inborn genetic diseases [RCV002425800] Chr2:208239139 [GRCh38]
Chr2:209103863 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.276G>T (p.Trp92Cys) single nucleotide variant Inborn genetic diseases [RCV002439607] Chr2:208248507 [GRCh38]
Chr2:209113231 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.720A>G (p.Glu240=) single nucleotide variant Inborn genetic diseases [RCV002370895] Chr2:208242124 [GRCh38]
Chr2:209106848 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.531T>G (p.Gly177=) single nucleotide variant Inborn genetic diseases [RCV002346789] Chr2:208243594 [GRCh38]
Chr2:209108318 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.753C>T (p.Ile251=) single nucleotide variant Inborn genetic diseases [RCV002393928] Chr2:208242091 [GRCh38]
Chr2:209106815 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1120A>G (p.Lys374Glu) single nucleotide variant Inborn genetic diseases [RCV002439871] Chr2:208239105 [GRCh38]
Chr2:209103829 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.601C>G (p.Leu201Val) single nucleotide variant Inborn genetic diseases [RCV002358098] Chr2:208243524 [GRCh38]
Chr2:209108248 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.601C>T (p.Leu201=) single nucleotide variant Inborn genetic diseases [RCV002358103] Chr2:208243524 [GRCh38]
Chr2:209108248 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1022C>A (p.Ala341Asp) single nucleotide variant Inborn genetic diseases [RCV002447549] Chr2:208239203 [GRCh38]
Chr2:209103927 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.725A>C (p.Gln242Pro) single nucleotide variant Inborn genetic diseases [RCV002371137] Chr2:208242119 [GRCh38]
Chr2:209106843 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.39G>T (p.Met13Ile) single nucleotide variant Inborn genetic diseases [RCV002357803] Chr2:208251513 [GRCh38]
Chr2:209116237 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.117A>G (p.Leu39=) single nucleotide variant Inborn genetic diseases [RCV002342245] Chr2:208251435 [GRCh38]
Chr2:209116159 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1071T>C (p.Asn357=) single nucleotide variant Inborn genetic diseases [RCV002423587] Chr2:208239154 [GRCh38]
Chr2:209103878 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.293C>G (p.Thr98Ser) single nucleotide variant Inborn genetic diseases [RCV002440149] Chr2:208248490 [GRCh38]
Chr2:209113214 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.756C>A (p.Asp252Glu) single nucleotide variant Inborn genetic diseases [RCV002394058] Chr2:208242088 [GRCh38]
Chr2:209106812 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.756C>T (p.Asp252=) single nucleotide variant Inborn genetic diseases [RCV002394076] Chr2:208242088 [GRCh38]
Chr2:209106812 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.444G>A (p.Gly148=) single nucleotide variant Inborn genetic diseases [RCV002328338] Chr2:208245395 [GRCh38]
Chr2:209110119 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.820G>A (p.Gly274Ser) single nucleotide variant Inborn genetic diseases [RCV002427963] Chr2:208242024 [GRCh38]
Chr2:209106748 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1223A>G (p.Lys408Arg) single nucleotide variant Inborn genetic diseases [RCV002361828] Chr2:208237101 [GRCh38]
Chr2:209101825 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.913G>T (p.Ala305Ser) single nucleotide variant Inborn genetic diseases [RCV002378772] Chr2:208239941 [GRCh38]
Chr2:209104665 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.181G>A (p.Ala61Thr) single nucleotide variant Inborn genetic diseases [RCV002410337] Chr2:208248602 [GRCh38]
Chr2:209113326 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.771A>G (p.Gln257=) single nucleotide variant Inborn genetic diseases [RCV002400668] Chr2:208242073 [GRCh38]
Chr2:209106797 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.306T>C (p.Ile102=) single nucleotide variant Inborn genetic diseases [RCV002444338] Chr2:208248477 [GRCh38]
Chr2:209113201 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.924C>T (p.Ala308=) single nucleotide variant Inborn genetic diseases [RCV002371372] Chr2:208239930 [GRCh38]
Chr2:209104654 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.897T>C (p.Asp299=) single nucleotide variant Inborn genetic diseases [RCV002376257] Chr2:208239957 [GRCh38]
Chr2:209104681 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1058C>G (p.Ala353Gly) single nucleotide variant Inborn genetic diseases [RCV002401378] Chr2:208239167 [GRCh38]
Chr2:209103891 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1059C>G (p.Ala353=) single nucleotide variant Inborn genetic diseases [RCV002407542] Chr2:208239166 [GRCh38]
Chr2:209103890 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.534T>C (p.Val178=) single nucleotide variant Inborn genetic diseases [RCV002346971] Chr2:208243591 [GRCh38]
Chr2:209108315 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.210C>T (p.Gly70=) single nucleotide variant Inborn genetic diseases [RCV002424376] Chr2:208248573 [GRCh38]
Chr2:209113297 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.401C>T (p.Ala134Val) single nucleotide variant Inborn genetic diseases [RCV002359473] Chr2:208248382 [GRCh38]
Chr2:209113106 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.233C>T (p.Pro78Leu) single nucleotide variant Inborn genetic diseases [RCV002457681] Chr2:208248550 [GRCh38]
Chr2:209113274 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1091T>C (p.Ile364Thr) single nucleotide variant Inborn genetic diseases [RCV002448100] Chr2:208239134 [GRCh38]
Chr2:209103858 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.692A>G (p.Tyr231Cys) single nucleotide variant Inborn genetic diseases [RCV002362385] Chr2:208243433 [GRCh38]
Chr2:209108157 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.309G>C (p.Leu103=) single nucleotide variant Inborn genetic diseases [RCV002325921] Chr2:208248474 [GRCh38]
Chr2:209113198 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.318G>C (p.Thr106=) single nucleotide variant Inborn genetic diseases [RCV002322853] Chr2:208248465 [GRCh38]
Chr2:209113189 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.969G>C (p.Gln323His) single nucleotide variant Inborn genetic diseases [RCV002376620] Chr2:208239885 [GRCh38]
Chr2:209104609 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.526G>C (p.Gly176Arg) single nucleotide variant Inborn genetic diseases [RCV002344396] Chr2:208243599 [GRCh38]
Chr2:209108323 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.383T>C (p.Ile128Thr) single nucleotide variant Inborn genetic diseases [RCV002355441] Chr2:208248400 [GRCh38]
Chr2:209113124 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.384C>T (p.Ile128=) single nucleotide variant Inborn genetic diseases [RCV002355474] Chr2:208248399 [GRCh38]
Chr2:209113123 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.439C>T (p.Pro147Ser) single nucleotide variant Inborn genetic diseases [RCV002333701] Chr2:208245400 [GRCh38]
Chr2:209110124 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.279A>G (p.Lys93=) single nucleotide variant Inborn genetic diseases [RCV002441496] Chr2:208248504 [GRCh38]
Chr2:209113228 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1171T>C (p.Tyr391His) single nucleotide variant Inborn genetic diseases [RCV002332143] Chr2:208237153 [GRCh38]
Chr2:209101877 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.566T>C (p.Ile189Thr) single nucleotide variant Inborn genetic diseases [RCV002347369] Chr2:208243559 [GRCh38]
Chr2:209108283 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.841G>A (p.Val281Met) single nucleotide variant Inborn genetic diseases [RCV002412613] Chr2:208242003 [GRCh38]
Chr2:209106727 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.866G>T (p.Gly289Val) single nucleotide variant Inborn genetic diseases [RCV002373348] Chr2:208239988 [GRCh38]
Chr2:209104712 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.27T>C (p.Ser9=) single nucleotide variant Inborn genetic diseases [RCV002441583] Chr2:208251525 [GRCh38]
Chr2:209116249 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.58C>G (p.Arg20Gly) single nucleotide variant Inborn genetic diseases [RCV002355684] Chr2:208251494 [GRCh38]
Chr2:209116218 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.393T>A (p.Gly131=) single nucleotide variant Inborn genetic diseases [RCV002373280] Chr2:208248390 [GRCh38]
Chr2:209113114 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.318G>A (p.Thr106=) single nucleotide variant Inborn genetic diseases [RCV002322849] Chr2:208248465 [GRCh38]
Chr2:209113189 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.310G>A (p.Gly104Ser) single nucleotide variant Inborn genetic diseases [RCV002326074] Chr2:208248473 [GRCh38]
Chr2:209113197 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.433G>T (p.Val145Phe) single nucleotide variant Inborn genetic diseases [RCV002332192] Chr2:208245406 [GRCh38]
Chr2:209110130 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.52A>G (p.Met18Val) single nucleotide variant Inborn genetic diseases [RCV002344576] Chr2:208251500 [GRCh38]
Chr2:209116224 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.296T>C (p.Ile99Thr) single nucleotide variant Inborn genetic diseases [RCV002442091] Chr2:208248487 [GRCh38]
Chr2:209113211 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.57A>C (p.Thr19=) single nucleotide variant Inborn genetic diseases [RCV002359834] Chr2:208251495 [GRCh38]
Chr2:209116219 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.424A>G (p.Thr142Ala) single nucleotide variant Inborn genetic diseases [RCV002329837] Chr2:208245415 [GRCh38]
Chr2:209110139 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.558T>C (p.Asp186=) single nucleotide variant Inborn genetic diseases [RCV002344818] Chr2:208243567 [GRCh38]
Chr2:209108291 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.591C>G (p.Phe197Leu) single nucleotide variant Inborn genetic diseases [RCV002355788] Chr2:208243534 [GRCh38]
Chr2:209108258 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.868A>G (p.Met290Val) single nucleotide variant Inborn genetic diseases [RCV002373381] Chr2:208239986 [GRCh38]
Chr2:209104710 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.158A>G (p.Asn53Ser) single nucleotide variant Inborn genetic diseases [RCV002398390] Chr2:208248625 [GRCh38]
Chr2:209113349 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.530G>A (p.Gly177Asp) single nucleotide variant Inborn genetic diseases [RCV002344645] Chr2:208243595 [GRCh38]
Chr2:209108319 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1085T>C (p.Val362Ala) single nucleotide variant Inborn genetic diseases [RCV002425631] Chr2:208239140 [GRCh38]
Chr2:209103864 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.307C>T (p.Leu103=) single nucleotide variant Inborn genetic diseases [RCV002319868] Chr2:208248476 [GRCh38]
Chr2:209113200 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.164A>C (p.Gln55Pro) single nucleotide variant Inborn genetic diseases [RCV002395023] Chr2:208248619 [GRCh38]
Chr2:209113343 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.15C>T (p.Ile5=) single nucleotide variant Inborn genetic diseases [RCV002398660] Chr2:208251537 [GRCh38]
Chr2:209116261 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.150T>C (p.Asp50=) single nucleotide variant Inborn genetic diseases [RCV002392189] Chr2:208248633 [GRCh38]
Chr2:209113357 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.854A>G (p.Tyr285Cys) single nucleotide variant Inborn genetic diseases [RCV002414460] Chr2:208240000 [GRCh38]
Chr2:209104724 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1090A>T (p.Ile364Phe) single nucleotide variant Inborn genetic diseases [RCV002446261] Chr2:208239135 [GRCh38]
Chr2:209103859 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.22G>A (p.Gly8Ser) single nucleotide variant Inborn genetic diseases [RCV002446309] Chr2:208251530 [GRCh38]
Chr2:209116254 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.840T>C (p.Ser280=) single nucleotide variant Inborn genetic diseases [RCV002445867] Chr2:208242004 [GRCh38]
Chr2:209106728 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1025A>G (p.His342Arg) single nucleotide variant Inborn genetic diseases [RCV002380698] Chr2:208239200 [GRCh38]
Chr2:209103924 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.767C>T (p.Ala256Val) single nucleotide variant Inborn genetic diseases [RCV002400479] Chr2:208242077 [GRCh38]
Chr2:209106801 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1205G>A (p.Gly402Glu) single nucleotide variant Inborn genetic diseases [RCV002345001] Chr2:208237119 [GRCh38]
Chr2:209101843 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.46G>C (p.Asp16His) single nucleotide variant Inborn genetic diseases [RCV002335309] Chr2:208251506 [GRCh38]
Chr2:209116230 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1044C>G (p.Asn348Lys) single nucleotide variant Inborn genetic diseases [RCV002403266] Chr2:208239181 [GRCh38]
Chr2:209103905 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1017G>A (p.Gly339=) single nucleotide variant Inborn genetic diseases [RCV002351995] Chr2:208239208 [GRCh38]
Chr2:209103932 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.448G>A (p.Gly150Arg) single nucleotide variant Inborn genetic diseases [RCV002328612] Chr2:208245391 [GRCh38]
Chr2:209110115 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.134G>A (p.Gly45Asp) single nucleotide variant Inborn genetic diseases [RCV002387921] Chr2:208248649 [GRCh38]
Chr2:209113373 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.318G>T (p.Thr106=) single nucleotide variant Inborn genetic diseases [RCV002443317] Chr2:208248465 [GRCh38]
Chr2:209113189 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1044C>T (p.Asn348=) single nucleotide variant Inborn genetic diseases [RCV002403334] Chr2:208239181 [GRCh38]
Chr2:209103905 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.950G>A (p.Arg317His) single nucleotide variant Inborn genetic diseases [RCV002374181] Chr2:208239904 [GRCh38]
Chr2:209104628 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.952A>G (p.Met318Val) single nucleotide variant Inborn genetic diseases [RCV002374234] Chr2:208239902 [GRCh38]
Chr2:209104626 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.825C>T (p.Asp275=) single nucleotide variant Inborn genetic diseases [RCV002430176] Chr2:208242019 [GRCh38]
Chr2:209106743 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.321C>A (p.Val107=) single nucleotide variant Inborn genetic diseases [RCV002324665] Chr2:208248462 [GRCh38]
Chr2:209113186 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.243G>A (p.Lys81=) single nucleotide variant Inborn genetic diseases [RCV002460020] Chr2:208248540 [GRCh38]
Chr2:209113264 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.468C>T (p.Tyr156=) single nucleotide variant Inborn genetic diseases [RCV002335245] Chr2:208245371 [GRCh38]
Chr2:209110095 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.828G>A (p.Val276=) single nucleotide variant Inborn genetic diseases [RCV002430277] Chr2:208242016 [GRCh38]
Chr2:209106740 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1057G>T (p.Ala353Ser) single nucleotide variant Inborn genetic diseases [RCV002407437] Chr2:208239168 [GRCh38]
Chr2:209103892 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.585T>C (p.Ser195=) single nucleotide variant Inborn genetic diseases [RCV002353404] Chr2:208243540 [GRCh38]
Chr2:209108264 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.16A>G (p.Ser6Gly) single nucleotide variant Inborn genetic diseases [RCV002406296] Chr2:208251536 [GRCh38]
Chr2:209116260 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.213C>G (p.Val71=) single nucleotide variant Inborn genetic diseases [RCV002430507] Chr2:208248570 [GRCh38]
Chr2:209113294 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.904A>G (p.Thr302Ala) single nucleotide variant Inborn genetic diseases [RCV002378489] Chr2:208239950 [GRCh38]
Chr2:209104674 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.315C>G (p.Gly105=) single nucleotide variant Inborn genetic diseases [RCV002320907] Chr2:208248468 [GRCh38]
Chr2:209113192 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.938C>T (p.Thr313Ile) single nucleotide variant Inborn genetic diseases [RCV002443387] Chr2:208239916 [GRCh38]
Chr2:209104640 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.650A>G (p.Lys217Arg) single nucleotide variant Inborn genetic diseases [RCV002364165] Chr2:208243475 [GRCh38]
Chr2:209108199 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.137T>C (p.Ile46Thr) single nucleotide variant Inborn genetic diseases [RCV002381141] Chr2:208248646 [GRCh38]
Chr2:209113370 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.598G>T (p.Ala200Ser) single nucleotide variant Inborn genetic diseases [RCV002357888] Chr2:208243527 [GRCh38]
Chr2:209108251 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.750C>T (p.Leu250=) single nucleotide variant Inborn genetic diseases [RCV002393754] Chr2:208242094 [GRCh38]
Chr2:209106818 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.641C>G (p.Thr214Ser) single nucleotide variant Inborn genetic diseases [RCV002361665] Chr2:208243484 [GRCh38]
Chr2:209108208 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.906A>G (p.Thr302=) single nucleotide variant Inborn genetic diseases [RCV002378537] Chr2:208239948 [GRCh38]
Chr2:209104672 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.232C>T (p.Pro78Ser) single nucleotide variant Inborn genetic diseases [RCV002802420] Chr2:208248551 [GRCh38]
Chr2:209113275 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.154A>G (p.Thr52Ala) single nucleotide variant Inborn genetic diseases [RCV003278536] Chr2:208248629 [GRCh38]
Chr2:209113353 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.997A>C (p.Ile333Leu) single nucleotide variant Inborn genetic diseases [RCV003278537] Chr2:208239228 [GRCh38]
Chr2:209103952 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.851G>C (p.Gly284Ala) single nucleotide variant Inborn genetic diseases [RCV003278538] Chr2:208240003 [GRCh38]
Chr2:209104727 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.953T>C (p.Met318Thr) single nucleotide variant Inborn genetic diseases [RCV003184510] Chr2:208239901 [GRCh38]
Chr2:209104625 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.478G>T (p.Asp160Tyr) single nucleotide variant Inborn genetic diseases [RCV003212946] Chr2:208245361 [GRCh38]
Chr2:209110085 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.425C>T (p.Thr142Ile) single nucleotide variant Inborn genetic diseases [RCV003212979] Chr2:208245414 [GRCh38]
Chr2:209110138 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.912A>G (p.Glu304=) single nucleotide variant Inborn genetic diseases [RCV003196052] Chr2:208239942 [GRCh38]
Chr2:209104666 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.262T>C (p.Leu88=) single nucleotide variant Inborn genetic diseases [RCV003196061] Chr2:208248521 [GRCh38]
Chr2:209113245 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.620T>G (p.Leu207Trp) single nucleotide variant Inborn genetic diseases [RCV003196066] Chr2:208243505 [GRCh38]
Chr2:209108229 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1026C>G (p.His342Gln) single nucleotide variant Inborn genetic diseases [RCV003196091] Chr2:208239199 [GRCh38]
Chr2:209103923 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.65T>C (p.Ile22Thr) single nucleotide variant Inborn genetic diseases [RCV003182680] Chr2:208251487 [GRCh38]
Chr2:209116211 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.603G>T (p.Leu201=) single nucleotide variant Inborn genetic diseases [RCV003176369] Chr2:208243522 [GRCh38]
Chr2:209108246 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.253G>A (p.Glu85Lys) single nucleotide variant Inborn genetic diseases [RCV003176370] Chr2:208248530 [GRCh38]
Chr2:209113254 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.39G>A (p.Met13Ile) single nucleotide variant Inborn genetic diseases [RCV003176371] Chr2:208251513 [GRCh38]
Chr2:209116237 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.185A>C (p.Glu62Ala) single nucleotide variant Inborn genetic diseases [RCV003182681] Chr2:208248598 [GRCh38]
Chr2:209113322 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.744T>C (p.His248=) single nucleotide variant Inborn genetic diseases [RCV003182683] Chr2:208242100 [GRCh38]
Chr2:209106824 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.851G>A (p.Gly284Glu) single nucleotide variant Inborn genetic diseases [RCV003182684] Chr2:208240003 [GRCh38]
Chr2:209104727 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.937A>T (p.Thr313Ser) single nucleotide variant Inborn genetic diseases [RCV003182685] Chr2:208239917 [GRCh38]
Chr2:209104641 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.739G>A (p.Glu247Lys) single nucleotide variant Inborn genetic diseases [RCV003182686] Chr2:208242105 [GRCh38]
Chr2:209106829 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.933T>C (p.Thr311=) single nucleotide variant Inborn genetic diseases [RCV003182687] Chr2:208239921 [GRCh38]
Chr2:209104645 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.838T>C (p.Ser280Pro) single nucleotide variant Inborn genetic diseases [RCV003182688] Chr2:208242006 [GRCh38]
Chr2:209106730 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1060T>G (p.Phe354Val) single nucleotide variant Inborn genetic diseases [RCV003182689] Chr2:208239165 [GRCh38]
Chr2:209103889 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.538A>G (p.Met180Val) single nucleotide variant Inborn genetic diseases [RCV003196022] Chr2:208243587 [GRCh38]
Chr2:209108311 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1181C>T (p.Thr394Ile) single nucleotide variant Inborn genetic diseases [RCV003196029] Chr2:208237143 [GRCh38]
Chr2:209101867 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.73T>C (p.Leu25=) single nucleotide variant Inborn genetic diseases [RCV003196039] Chr2:208251479 [GRCh38]
Chr2:209116203 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.860C>G (p.Ser287Cys) single nucleotide variant Inborn genetic diseases [RCV003196044] Chr2:208239994 [GRCh38]
Chr2:209104718 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.43G>A (p.Gly15Arg) single nucleotide variant Inborn genetic diseases [RCV003196077] Chr2:208251509 [GRCh38]
Chr2:209116233 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.154A>T (p.Thr52Ser) single nucleotide variant Inborn genetic diseases [RCV003182674] Chr2:208248629 [GRCh38]
Chr2:209113353 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.546G>A (p.Met182Ile) single nucleotide variant Inborn genetic diseases [RCV003182675] Chr2:208243579 [GRCh38]
Chr2:209108303 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.612T>C (p.Gly204=) single nucleotide variant Inborn genetic diseases [RCV003182676] Chr2:208243513 [GRCh38]
Chr2:209108237 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1047T>A (p.Asn349Lys) single nucleotide variant Inborn genetic diseases [RCV003182677] Chr2:208239178 [GRCh38]
Chr2:209103902 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.950G>C (p.Arg317Pro) single nucleotide variant Inborn genetic diseases [RCV003182678] Chr2:208239904 [GRCh38]
Chr2:209104628 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.447T>C (p.Pro149=) single nucleotide variant Inborn genetic diseases [RCV003182679] Chr2:208245392 [GRCh38]
Chr2:209110116 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.432T>G (p.Phe144Leu) single nucleotide variant Inborn genetic diseases [RCV003196085] Chr2:208245407 [GRCh38]
Chr2:209110131 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1162C>T (p.Arg388Cys) single nucleotide variant Inborn genetic diseases [RCV003212929] Chr2:208237162 [GRCh38]
Chr2:209101886 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.298C>A (p.Arg100=) single nucleotide variant Inborn genetic diseases [RCV003212965] Chr2:208248485 [GRCh38]
Chr2:209113209 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.982A>T (p.Asn328Tyr) single nucleotide variant Inborn genetic diseases [RCV003182690] Chr2:208239872 [GRCh38]
Chr2:209104596 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.237T>G (p.Asp79Glu) single nucleotide variant Inborn genetic diseases [RCV003165183] Chr2:208248546 [GRCh38]
Chr2:209113270 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.64A>T (p.Ile22Phe) single nucleotide variant Inborn genetic diseases [RCV003310519] Chr2:208251488 [GRCh38]
Chr2:209116212 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.658G>A (p.Asp220Asn) single nucleotide variant Inborn genetic diseases [RCV003310521] Chr2:208243467 [GRCh38]
Chr2:209108191 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1067C>T (p.Ala356Val) single nucleotide variant Inborn genetic diseases [RCV003310522] Chr2:208239158 [GRCh38]
Chr2:209103882 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_005896.4(IDH1):c.556G>C (p.Asp186His) single nucleotide variant Inborn genetic diseases [RCV003360843] Chr2:208243569 [GRCh38]
Chr2:209108293 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.336T>C (p.Ile112=) single nucleotide variant Inborn genetic diseases [RCV003360844] Chr2:208248447 [GRCh38]
Chr2:209113171 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.264G>A (p.Leu88=) single nucleotide variant Inborn genetic diseases [RCV003360846] Chr2:208248519 [GRCh38]
Chr2:209113243 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1024C>T (p.His342Tyr) single nucleotide variant Inborn genetic diseases [RCV003360842] Chr2:208239201 [GRCh38]
Chr2:209103925 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.879C>G (p.Ser293Arg) single nucleotide variant Inborn genetic diseases [RCV003360845] Chr2:208239975 [GRCh38]
Chr2:209104699 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1152C>A (p.Pro384=) single nucleotide variant Inborn genetic diseases [RCV003360847] Chr2:208239073 [GRCh38]
Chr2:209103797 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.1084G>T (p.Val362Phe) single nucleotide variant Inborn genetic diseases [RCV003387130] Chr2:208239141 [GRCh38]
Chr2:209103865 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.194A>G (p.Lys65Arg) single nucleotide variant Inborn genetic diseases [RCV003387131] Chr2:208248589 [GRCh38]
Chr2:209113313 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.216A>G (p.Lys72=) single nucleotide variant Inborn genetic diseases [RCV003364635] Chr2:208248567 [GRCh38]
Chr2:209113291 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.804C>T (p.Ala268=) single nucleotide variant Inborn genetic diseases [RCV003364654] Chr2:208242040 [GRCh38]
Chr2:209106764 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.831G>T (p.Gln277His) single nucleotide variant Inborn genetic diseases [RCV003364602] Chr2:208242013 [GRCh38]
Chr2:209106737 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.711C>T (p.Ser237=) single nucleotide variant Inborn genetic diseases [RCV003387129] Chr2:208242133 [GRCh38]
Chr2:209106857 [GRCh37]
Chr2:2q34		 likely benign
NM_005896.4(IDH1):c.556G>T (p.Asp186Tyr) single nucleotide variant Inborn genetic diseases [RCV003367847] Chr2:208243569 [GRCh38]
Chr2:209108293 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1030G>A (p.Ala344Thr) single nucleotide variant Inborn genetic diseases [RCV003350682] Chr2:208239195 [GRCh38]
Chr2:209103919 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.87A>T (p.Lys29Asn) single nucleotide variant Inborn genetic diseases [RCV003350681] Chr2:208251465 [GRCh38]
Chr2:209116189 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.458A>G (p.Glu153Gly) single nucleotide variant Inborn genetic diseases [RCV003350683] Chr2:208245381 [GRCh38]
Chr2:209110105 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.1207G>A (p.Glu403Lys) single nucleotide variant Inborn genetic diseases [RCV003350680] Chr2:208237117 [GRCh38]
Chr2:209101841 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.482G>A (p.Gly161Glu) single nucleotide variant Inborn genetic diseases [RCV003376188] Chr2:208245357 [GRCh38]
Chr2:209110081 [GRCh37]
Chr2:2q34		 uncertain significance
NM_005896.4(IDH1):c.535G>A (p.Ala179Thr) single nucleotide variant Inborn genetic diseases [RCV003387132] Chr2:208243590 [GRCh38]
Chr2:209108314 [GRCh37]
Chr2:2q34		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q33.3-34(chr2:208965515-209383510)x3 copy number gain not specified [RCV003986330] Chr2:208965515..209383510 [GRCh37]
Chr2:2q33.3-34		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1520
Count of miRNA genes:561
Interacting mature miRNAs:625
Transcripts:ENST00000345146, ENST00000415282, ENST00000415913, ENST00000417583, ENST00000446179, ENST00000451391, ENST00000462386, ENST00000481557, ENST00000484575
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.

Markers in Region
RH41922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,106,345 - 209,106,611UniSTSGRCh37
Build 362208,814,590 - 208,814,856RGDNCBI36
Celera2202,874,253 - 202,874,519RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,954,413 - 200,954,679UniSTS
GeneMap99-GB4 RH Map2646.14UniSTS
NCBI RH Map21553.1UniSTS
G30308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,100,976 - 209,101,083UniSTSGRCh37
Build 362208,809,221 - 208,809,328RGDNCBI36
Celera2202,868,886 - 202,868,993RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,949,042 - 200,949,149UniSTS
SHGC-2545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,101,614 - 209,101,790UniSTSGRCh37
Build 362208,809,859 - 208,810,035RGDNCBI36
Celera2202,869,524 - 202,869,700RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,949,680 - 200,949,856UniSTS
TNG Radiation Hybrid Map2113840.0UniSTS
RH81021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,100,976 - 209,101,223UniSTSGRCh37
Build 362208,809,221 - 208,809,468RGDNCBI36
Celera2202,868,886 - 202,869,133RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,949,042 - 200,949,289UniSTS
GeneMap99-GB4 RH Map2647.29UniSTS
G43665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,101,681 - 209,101,830UniSTSGRCh37
Build 362208,809,926 - 208,810,075RGDNCBI36
Celera2202,869,591 - 202,869,740RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,949,747 - 200,949,896UniSTS
SHGC-37075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,105,481 - 209,105,605UniSTSGRCh37
Build 362208,813,726 - 208,813,850RGDNCBI36
Celera2202,873,390 - 202,873,514RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,953,550 - 200,953,674UniSTS
TNG Radiation Hybrid Map2113840.0UniSTS
GeneMap99-G3 RH Map29099.0UniSTS
RH47131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,101,602 - 209,101,728UniSTSGRCh37
Build 362208,809,847 - 208,809,973RGDNCBI36
Celera2202,869,512 - 202,869,638RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,949,668 - 200,949,794UniSTS
GeneMap99-GB4 RH Map2645.51UniSTS
RH68077  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,110,364 - 209,110,595UniSTSGRCh37
Build 362208,818,609 - 208,818,840RGDNCBI36
Celera2202,878,272 - 202,878,502RGD
Cytogenetic Map2q33.3UniSTS
HuRef2200,958,432 - 200,958,661UniSTS
GeneMap99-GB4 RH Map2641.85UniSTS
NCBI RH Map21553.1UniSTS
IDH1_3388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372209,100,861 - 209,101,691UniSTSGRCh37
Build 362208,809,106 - 208,809,936RGDNCBI36
Celera2202,868,771 - 202,869,601RGD
HuRef2200,948,927 - 200,949,757UniSTS


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 2308 2114 1701 620 1524 462 3673 1228 2589 379 1441 1558 171 1199 2120 4
Low 130 871 23 3 427 3 683 966 1124 40 15 51 1 5 668 1 1
Below cutoff 3 2 2 12 3 3 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF197566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR533522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA707595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA728868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ403082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR158630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KM366108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT518182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT518183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N21575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON022872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON022873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON022874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON022875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345146   ⟹   ENSP00000260985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,236,229 - 208,255,071 (-)Ensembl
RefSeq Acc Id: ENST00000415282   ⟹   ENSP00000391075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,245,367 - 208,254,339 (-)Ensembl
RefSeq Acc Id: ENST00000415913   ⟹   ENSP00000390265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,236,265 - 208,254,322 (-)Ensembl
RefSeq Acc Id: ENST00000417583   ⟹   ENSP00000409045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,248,562 - 208,255,798 (-)Ensembl
RefSeq Acc Id: ENST00000446179   ⟹   ENSP00000410513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,236,232 - 208,254,458 (-)Ensembl
RefSeq Acc Id: ENST00000451391   ⟹   ENSP00000396787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,248,597 - 208,266,074 (-)Ensembl
RefSeq Acc Id: ENST00000462386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,247,382 - 208,255,061 (-)Ensembl
RefSeq Acc Id: ENST00000481557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,251,261 - 208,255,113 (-)Ensembl
RefSeq Acc Id: ENST00000484575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2208,236,742 - 208,240,315 (-)Ensembl
RefSeq Acc Id: NM_001282386   ⟹   NP_001269315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,236,227 - 208,254,458 (-)NCBI
HuRef2200,949,017 - 200,967,951 (-)NCBI
CHM1_12209,106,804 - 209,125,038 (-)NCBI
T2T-CHM13v2.02208,716,002 - 208,734,253 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282387   ⟹   NP_001269316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,236,227 - 208,254,303 (-)NCBI
HuRef2200,949,017 - 200,967,951 (-)NCBI
CHM1_12209,106,804 - 209,124,883 (-)NCBI
T2T-CHM13v2.02208,716,002 - 208,734,098 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005896   ⟹   NP_005887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,236,229 - 208,255,071 (-)NCBI
GRCh372209,100,951 - 209,120,478 (-)NCBI
Build 362208,809,198 - 208,828,051 (-)NCBI Archive
HuRef2200,949,017 - 200,967,951 (-)NCBI
CHM1_12209,106,804 - 209,125,723 (-)NCBI
T2T-CHM13v2.02208,716,004 - 208,734,866 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001269315 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269316 (Get FASTA)   NCBI Sequence Viewer  
  NP_005887 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17375 (Get FASTA)   NCBI Sequence Viewer  
  AAD02918 (Get FASTA)   NCBI Sequence Viewer  
  AAD29284 (Get FASTA)   NCBI Sequence Viewer  
  AAG43470 (Get FASTA)   NCBI Sequence Viewer  
  AAH12846 (Get FASTA)   NCBI Sequence Viewer  
  AAH93020 (Get FASTA)   NCBI Sequence Viewer  
  AAX93221 (Get FASTA)   NCBI Sequence Viewer  
  ABD77215 (Get FASTA)   NCBI Sequence Viewer  
  ACI46034 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13677 (Get FASTA)   NCBI Sequence Viewer  
  ADO22476 (Get FASTA)   NCBI Sequence Viewer  
  AIW39811 (Get FASTA)   NCBI Sequence Viewer  
  BAG35175 (Get FASTA)   NCBI Sequence Viewer  
  BAG63486 (Get FASTA)   NCBI Sequence Viewer  
  CAB66637 (Get FASTA)   NCBI Sequence Viewer  
  CAD97653 (Get FASTA)   NCBI Sequence Viewer  
  CAG38553 (Get FASTA)   NCBI Sequence Viewer  
  CAG38738 (Get FASTA)   NCBI Sequence Viewer  
  CAG46496 (Get FASTA)   NCBI Sequence Viewer  
  EAW70439 (Get FASTA)   NCBI Sequence Viewer  
  EAW70440 (Get FASTA)   NCBI Sequence Viewer  
  EAW70441 (Get FASTA)   NCBI Sequence Viewer  
  EAW70442 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260985
  ENSP00000260985.2
  ENSP00000390265
  ENSP00000390265.1
  ENSP00000391075.1
  ENSP00000396787.1
  ENSP00000409045.1
  ENSP00000410513
  ENSP00000410513.1
GenBank Protein O75874 (Get FASTA)   NCBI Sequence Viewer  
  UMM44933 (Get FASTA)   NCBI Sequence Viewer  
  UMM44934 (Get FASTA)   NCBI Sequence Viewer  
  UOF83130 (Get FASTA)   NCBI Sequence Viewer  
  UOF83131 (Get FASTA)   NCBI Sequence Viewer  
  UOF83132 (Get FASTA)   NCBI Sequence Viewer  
  UOF83133 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005887   ⟸   NM_005896
- UniProtKB: Q9NTJ9 (UniProtKB/Swiss-Prot),   Q93090 (UniProtKB/Swiss-Prot),   Q7Z3V0 (UniProtKB/Swiss-Prot),   Q6FHQ6 (UniProtKB/Swiss-Prot),   Q567U4 (UniProtKB/Swiss-Prot),   Q9UKW8 (UniProtKB/Swiss-Prot),   O75874 (UniProtKB/Swiss-Prot),   V9HWJ2 (UniProtKB/TrEMBL),   A0A024R3Y6 (UniProtKB/TrEMBL),   B2R5M8 (UniProtKB/TrEMBL),   Q6FI37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269315   ⟸   NM_001282386
- UniProtKB: Q9NTJ9 (UniProtKB/Swiss-Prot),   Q93090 (UniProtKB/Swiss-Prot),   Q7Z3V0 (UniProtKB/Swiss-Prot),   Q6FHQ6 (UniProtKB/Swiss-Prot),   Q567U4 (UniProtKB/Swiss-Prot),   Q9UKW8 (UniProtKB/Swiss-Prot),   O75874 (UniProtKB/Swiss-Prot),   V9HWJ2 (UniProtKB/TrEMBL),   A0A024R3Y6 (UniProtKB/TrEMBL),   B2R5M8 (UniProtKB/TrEMBL),   Q6FI37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269316   ⟸   NM_001282387
- UniProtKB: Q9NTJ9 (UniProtKB/Swiss-Prot),   Q93090 (UniProtKB/Swiss-Prot),   Q7Z3V0 (UniProtKB/Swiss-Prot),   Q6FHQ6 (UniProtKB/Swiss-Prot),   Q567U4 (UniProtKB/Swiss-Prot),   Q9UKW8 (UniProtKB/Swiss-Prot),   O75874 (UniProtKB/Swiss-Prot),   V9HWJ2 (UniProtKB/TrEMBL),   A0A024R3Y6 (UniProtKB/TrEMBL),   B2R5M8 (UniProtKB/TrEMBL),   Q6FI37 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000260985   ⟸   ENST00000345146
RefSeq Acc Id: ENSP00000396787   ⟸   ENST00000451391
RefSeq Acc Id: ENSP00000390265   ⟸   ENST00000415913
RefSeq Acc Id: ENSP00000391075   ⟸   ENST00000415282
RefSeq Acc Id: ENSP00000409045   ⟸   ENST00000417583
RefSeq Acc Id: ENSP00000410513   ⟸   ENST00000446179
Protein Domains
Isopropylmalate dehydrogenase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75874-F1-model_v2 AlphaFold O75874 1-414 view protein structure

Promoters
RGD ID:6862682
Promoter ID:EPDNEW_H4506
Type:initiation region
Name:IDH1_2
Description:isocitrate dehydrogenase (NADP(+)) 1, cytosolic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4507  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,254,242 - 208,254,302EPDNEW
RGD ID:6862684
Promoter ID:EPDNEW_H4507
Type:initiation region
Name:IDH1_1
Description:isocitrate dehydrogenase (NADP(+)) 1, cytosolic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382208,255,071 - 208,255,131EPDNEW
RGD ID:6797614
Promoter ID:HG_KWN:36957
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000336678
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,812,636 - 208,813,136 (-)MPROMDB
RGD ID:6797612
Promoter ID:HG_KWN:36958
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:OTTHUMT00000256475,   OTTHUMT00000336668,   OTTHUMT00000336669,   OTTHUMT00000336671,   OTTHUMT00000336674,   OTTHUMT00000336675,   OTTHUMT00000336676,   OTTHUMT00000336677,   OTTHUMT00000336734,   UC002VCS.1,   UC002VCT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,827,136 - 208,828,147 (-)MPROMDB
RGD ID:6852248
Promoter ID:EP73930
Type:initiation region
Name:HS_IDH1
Description:Isocitrate dehydrogenase 1 (NADP+), soluble.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362208,828,040 - 208,828,100EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5382 AgrOrtholog
COSMIC IDH1 COSMIC
Ensembl Genes ENSG00000138413 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345146 ENTREZGENE
  ENST00000345146.7 UniProtKB/Swiss-Prot
  ENST00000415282.5 UniProtKB/TrEMBL
  ENST00000415913 ENTREZGENE
  ENST00000415913.5 UniProtKB/Swiss-Prot
  ENST00000417583.5 UniProtKB/TrEMBL
  ENST00000446179 ENTREZGENE
  ENST00000446179.5 UniProtKB/Swiss-Prot
  ENST00000451391.5 UniProtKB/TrEMBL
Gene3D-CATH Isopropylmalate Dehydrogenase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138413 GTEx
HGNC ID HGNC:5382 ENTREZGENE
Human Proteome Map IDH1 Human Proteome Map
InterPro IsoCit/isopropylmalate_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Isocitrate_DH_NADP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IsoPropMal-DH-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3417 ENTREZGENE
OMIM 147700 OMIM
PANTHER ISOCITRATE DEHYDROGENASE [NADP] UniProtKB/TrEMBL
  ISOCITRATE DEHYDROGENASE [NADP] CYTOPLASMIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ISOCITRATE DEHYDROGENASE [NADP] CYTOPLASMIC UniProtKB/TrEMBL
  PTHR11822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Iso_dh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29630 PharmGKB
PIRSF IDH_NADP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 A0A024R3Y6 ENTREZGENE, UniProtKB/TrEMBL
  B2R5M8 ENTREZGENE, UniProtKB/TrEMBL
  C9J4N6_HUMAN UniProtKB/TrEMBL
  C9JJE5_HUMAN UniProtKB/TrEMBL
  C9JLU6_HUMAN UniProtKB/TrEMBL
  IDHC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q0QER2_HUMAN UniProtKB/TrEMBL
  Q567U4 ENTREZGENE
  Q6FHQ6 ENTREZGENE
  Q6FI37 ENTREZGENE, UniProtKB/TrEMBL
  Q6FIA4_HUMAN UniProtKB/TrEMBL
  Q7Z3V0 ENTREZGENE
  Q93090 ENTREZGENE
  Q9H302_HUMAN UniProtKB/TrEMBL
  Q9NTJ9 ENTREZGENE
  Q9UKW8 ENTREZGENE
  V9HWJ2 ENTREZGENE
UniProt Secondary Q567U4 UniProtKB/Swiss-Prot
  Q6FHQ6 UniProtKB/Swiss-Prot
  Q7Z3V0 UniProtKB/Swiss-Prot
  Q93090 UniProtKB/Swiss-Prot
  Q9NTJ9 UniProtKB/Swiss-Prot
  Q9UKW8 UniProtKB/Swiss-Prot
  V9HWJ2 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 IDH1  isocitrate dehydrogenase (NADP(+)) 1  IDH1  isocitrate dehydrogenase (NADP(+)) 1, cytosolic  Symbol and/or name change 5135510 APPROVED
2016-05-03 IDH1  isocitrate dehydrogenase (NADP(+)) 1, cytosolic  IDH1  isocitrate dehydrogenase 1 (NADP+)  Symbol and/or name change 5135510 APPROVED
2015-12-01 IDH1  isocitrate dehydrogenase 1 (NADP+)  IDH1  isocitrate dehydrogenase 1 (NADP+), soluble  Symbol and/or name change 5135510 APPROVED