FH (fumarate hydratase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: FH (fumarate hydratase) Homo sapiens
Analyze
Symbol: FH
Name: fumarate hydratase
RGD ID: 735599
HGNC Page HGNC:3700
Description: Enables fumarate hydratase activity and histone binding activity. Involved in DNA damage response; dicarboxylic acid metabolic process; and positive regulation of double-strand break repair via nonhomologous end joining. Located in several cellular components, including cytosol; mitochondrion; and site of double-strand break. Implicated in fumarase deficiency and lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FMRD; fumarase; fumarate hydratase 1; fumarate hydratase, mitochondrial; HLRCC; HsFH; LRCC; MCL; MCUL1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: FHP1   FHP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,497,603 - 241,519,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,497,511 - 241,519,799 (-)EnsemblGRCh38hg38GRCh38
GRCh371241,660,903 - 241,683,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,727,526 - 239,749,677 (-)NCBINCBI36Build 36hg18NCBI36
Build 341237,986,946 - 238,009,095NCBI
Celera1214,915,854 - 214,938,092 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,119,119 - 212,141,338 (-)NCBIHuRef
CHM1_11242,933,564 - 242,955,781 (-)NCBICHM1_1
T2T-CHM13v2.01240,909,033 - 240,931,170 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(1->4)-beta-D-glucan  (ISO)
(R)-adrenaline  (ISO)
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
7H-xanthine  (ISO)
8-Epidiosbulbin E acetate  (ISO)
9H-xanthine  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
beta-lapachone  (EXP)
bexarotene  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
Brodifacoum  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clomipramine  (ISO)
cobalt dichloride  (EXP)
cocaine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
erastin  (EXP)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
irinotecan  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
lamivudine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
Macrosphelide A  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
morphine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
olaparib  (EXP)
ouabain  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
phlorizin  (ISO)
pinosylvin  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
sunitinib  (EXP)
talazoparib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zidovudine  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
cytoplasm  (IDA,IEA,TAS)
cytosol  (IDA,IEA)
extracellular exosome  (HDA)
mitochondrial matrix  (IEA,ISO,TAS)
mitochondrion  (HDA,HTP,IBA,IDA,IEA,TAS)
nucleus  (IDA,IEA)
site of double-strand break  (IDA)

Molecular Function
fumarate hydratase activity  (IBA,IDA,IEA,IMP,ISO,TAS)
histone binding  (IPI)
lyase activity  (IEA)
protein binding  (IPI)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal speech pattern  (IAGP)
Abnormality of the musculature  (IAGP)
Adrenal pheochromocytoma  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aminoaciduria  (IAGP)
Aniridia  (IAGP)
Anteverted nares  (IAGP)
Arachnoid hemangiomatosis  (IAGP)
Ascites  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrett esophagus  (IAGP)
Bilateral fetal pyelectasis  (IAGP)
Breast carcinoma  (IAGP)
Cataract  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Choroid plexus cyst  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival icterus  (IAGP)
Cranial nerve compression  (IAGP)
Cutaneous leiomyoma  (IAGP)
Cutaneous leiomyosarcoma  (IAGP)
Decreased fumarate hydratase activity  (IAGP)
Depressed nasal bridge  (IAGP)
Dysphonia  (IAGP)
Elevated circulating calcitonin concentration  (IAGP)
Elevated urinary dopamine level  (IAGP)
Elevated urinary epinephrine level  (IAGP)
Elevated urinary norepinephrine level  (IAGP)
Elevated urine fumaric acid level  (IAGP)
Episodic abdominal pain  (IAGP)
Episodic hyperhidrosis  (IAGP)
Episodic paroxysmal anxiety  (IAGP)
Esophageal neoplasm  (IAGP)
Extraadrenal pheochromocytoma  (IAGP)
Failure to thrive  (IAGP)
Fatigue  (IAGP)
Flushing  (IAGP)
Frontal bossing  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Hematuria  (IAGP)
Hepatic failure  (IAGP)
Hepatoblastoma  (IAGP)
Hepatocellular carcinoma  (IAGP)
High palate  (IAGP)
Hyperbilirubinemia  (IAGP)
Hypercalcemia  (IAGP)
Hypertelorism  (IAGP)
Hypertension associated with pheochromocytoma  (IAGP)
Hypertensive retinopathy  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypotonia  (IAGP)
Increased urine succinate level  (IAGP)
Intellectual disability, profound  (IAGP)
Intrahepatic cholestasis  (IAGP)
Lactic acidosis  (IAGP)
Lissencephaly  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Mitochondrial swelling  (IAGP)
Multiple cutaneous leiomyomas  (IAGP)
Nausea  (IAGP)
Necrotizing enterocolitis  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Open operculum  (IAGP)
Optic atrophy  (IAGP)
Ovarian neoplasm  (IAGP)
Pallor  (IAGP)
Palpitations  (IAGP)
Panic attack  (IAGP)
Papillary renal cell carcinoma type 2  (IAGP)
Paraganglioma  (IAGP)
Paraganglioma of head and neck  (IAGP)
Parathyroid carcinoma  (IAGP)
Paroxysmal vertigo  (IAGP)
Perimembranous ventricular septal defect  (IAGP)
Polycythemia  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Positive regitine blocking test  (IAGP)
Proteinuria  (IAGP)
Pruritus  (IAGP)
Pulsatile tinnitus  (IAGP)
Recurrent paroxysmal headache  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Relative macrocephaly  (IAGP)
Renal cell carcinoma  (IAGP)
Retinal capillary hemangioma  (IAGP)
Second trimester onset  (IAGP)
Sinus tachycardia  (IAGP)
Status epilepticus  (IAGP)
Tremor  (IAGP)
Typified by incomplete penetrance  (IAGP)
Uterine leiomyoma  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Vaginal neoplasm  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
Vocal cord paralysis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Genetic variants in genes of tricarboxylic acid cycle key enzymes are associated with prognosis of patients with non-small cell lung cancer. Guo X, etal., Lung Cancer. 2015 Feb;87(2):162-8. doi: 10.1016/j.lungcan.2014.12.005. Epub 2014 Dec 18.
3. Preparation and properties of mitochondria derived from synaptosomes. Lai JC and Clark JB, Biochem J. 1976 Feb 15;154(2):423-32.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. HIF and fumarate hydratase in renal cancer. Sudarshan S, etal., Br J Cancer. 2007 Feb 12;96(3):403-7. Epub 2007 Jan 9.
11. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. Wei MH, etal., J Med Genet. 2006 Jan;43(1):18-27. Epub 2005 Jun 3.
12. 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.
Additional References at PubMed
PMID:434773   PMID:975868   PMID:2759092   PMID:3828494   PMID:4018793   PMID:8200987   PMID:9635293   PMID:11865300   PMID:12021453   PMID:12177782   PMID:12477932   PMID:12612654  
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PMID:23295344   PMID:23376485   PMID:23874603   PMID:24182348   PMID:24334767   PMID:24684806   PMID:24729973   PMID:25004247   PMID:25416956   PMID:25923021   PMID:26113603   PMID:26237645  
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PMID:28300276   PMID:28524877   PMID:28620008   PMID:28628081   PMID:28700432   PMID:28703412   PMID:28747166   PMID:28863073   PMID:29456767   PMID:29615496   PMID:29790226   PMID:29917289  
PMID:30021884   PMID:30033366   PMID:30097533   PMID:30339328   PMID:30463901   PMID:30575818   PMID:30718813   PMID:30761759   PMID:30807637   PMID:30884312   PMID:30948266   PMID:31081789  
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PMID:36225252   PMID:36495298   PMID:36517590   PMID:36773955   PMID:36866961   PMID:36890227   PMID:36898370   PMID:36981015   PMID:37223481   PMID:37255402   PMID:37312573   PMID:37316640  
PMID:37561409   PMID:37827155   PMID:38334954   PMID:38481055   PMID:38793008   PMID:39147351  


Genomics

Comparative Map Data
FH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381241,497,603 - 241,519,755 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1241,497,511 - 241,519,799 (-)EnsemblGRCh38hg38GRCh38
GRCh371241,660,903 - 241,683,055 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,727,526 - 239,749,677 (-)NCBINCBI36Build 36hg18NCBI36
Build 341237,986,946 - 238,009,095NCBI
Celera1214,915,854 - 214,938,092 (-)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1212,119,119 - 212,141,338 (-)NCBIHuRef
CHM1_11242,933,564 - 242,955,781 (-)NCBICHM1_1
T2T-CHM13v2.01240,909,033 - 240,931,170 (-)NCBIT2T-CHM13v2.0
Fh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391175,428,944 - 175,453,201 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1175,427,940 - 175,453,201 (-)EnsemblGRCm39 Ensembl
GRCm381175,601,378 - 175,625,635 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1175,600,374 - 175,625,635 (-)EnsemblGRCm38mm10GRCm38
MGSCv371177,531,509 - 177,555,766 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361177,438,053 - 177,462,253 (-)NCBIMGSCv36mm8
Celera1182,687,061 - 182,711,324 (-)NCBICelera
Cytogenetic Map1H3NCBI
cM Map181.58NCBI
Fh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81390,056,565 - 90,082,450 (-)NCBIGRCr8
mRatBN7.21387,524,331 - 87,550,215 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1387,524,337 - 87,550,266 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1390,024,127 - 90,050,089 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01391,424,397 - 91,450,349 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01388,603,544 - 88,629,509 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01393,651,486 - 93,677,371 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1393,651,484 - 93,677,377 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01398,116,496 - 98,142,636 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41391,329,837 - 91,355,722 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11391,518,725 - 91,544,617 (-)NCBI
Celera1387,123,119 - 87,148,786 (-)NCBICelera
Cytogenetic Map13q24NCBI
Fh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540610,535,323 - 10,561,627 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540610,535,801 - 10,558,649 (+)NCBIChiLan1.0ChiLan1.0
FH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v217,627,088 - 7,649,060 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117,851,062 - 7,873,025 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01217,059,847 - 217,081,795 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11222,041,142 - 222,063,271 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1222,041,142 - 222,064,212 (-)Ensemblpanpan1.1panPan2
FH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1732,900,250 - 32,927,436 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl732,901,586 - 32,927,412 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha732,378,016 - 32,404,992 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0732,726,854 - 32,753,856 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl732,726,854 - 32,753,869 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1732,562,040 - 32,588,973 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0732,586,108 - 32,613,094 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0732,834,235 - 32,861,236 (-)NCBIUU_Cfam_GSD_1.0
Fh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934445,782,142 - 45,811,186 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365268,935,991 - 8,965,367 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365268,936,096 - 8,965,155 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1012,404,176 - 12,431,824 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11012,404,143 - 12,431,843 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21014,852,719 - 14,879,014 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12578,576,931 - 78,599,998 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2578,575,300 - 78,599,972 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605580,709,772 - 80,732,613 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477111,856,884 - 11,887,066 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477111,861,537 - 11,886,154 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in FH
1690 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000143.4(FH):c.214A>C (p.Thr72Pro) single nucleotide variant Fumarase deficiency [RCV001062945]|Hereditary cancer-predisposing syndrome [RCV002429193]|not provided [RCV000254803] Chr1:241517235 [GRCh38]
Chr1:241680535 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.49G>C (p.Ala17Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563316]|not provided [RCV002528981] Chr1:241519674 [GRCh38]
Chr1:241682974 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000143.4(FH):c.1077T>A (p.Pro359=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562083]|not provided [RCV001312139] Chr1:241504073 [GRCh38]
Chr1:241667373 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000143.4(FH):c.228G>A (p.Thr76=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456084]|not provided [RCV002527725] Chr1:241517221 [GRCh38]
Chr1:241680521 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.911C>G (p.Pro304Arg) single nucleotide variant Fumarase deficiency [RCV000525503]|Hereditary cancer-predisposing syndrome [RCV002377041]|not provided [RCV001545353] Chr1:241504239 [GRCh38]
Chr1:241667539 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.26C>G (p.Ala9Gly) single nucleotide variant Fumarase deficiency [RCV000635299]|Hereditary cancer-predisposing syndrome [RCV000562796]|not provided [RCV001764682] Chr1:241519697 [GRCh38]
Chr1:241682997 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NC_000001.11:g.(?_241505997)_(241506174_?)del deletion Fumarase deficiency [RCV000551893] Chr1:241505997..241506174 [GRCh38]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.583A>G (p.Met195Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358480]|not provided [RCV002527733] Chr1:241508758 [GRCh38]
Chr1:241672058 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000143.4(FH):c.722C>T (p.Pro241Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563559]|not provided [RCV002528978]|not specified [RCV002465724] Chr1:241508619 [GRCh38]
Chr1:241671919 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.1292C>T (p.Thr431Ile) single nucleotide variant Fumarase deficiency [RCV000543314]|Hereditary cancer-predisposing syndrome [RCV001010798]|Hereditary leiomyomatosis and renal cell cancer [RCV001098856]|not provided [RCV002527719] Chr1:241500535 [GRCh38]
Chr1:241663835 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.237dup (p.Lys80Ter) duplication Hereditary cancer-predisposing syndrome [RCV000567476]|not provided [RCV002526809] Chr1:241517211..241517212 [GRCh38]
Chr1:241680511..241680512 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer) deletion Hereditary leiomyomatosis and renal cell cancer [RCV003139736]|not provided [RCV000522295] Chr1:241506097..241506098 [GRCh38]
Chr1:241669397..241669398 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.805A>G (p.Ile269Val) single nucleotide variant Fumarase deficiency [RCV001241084]|Hereditary cancer-predisposing syndrome [RCV000569054]|Hereditary leiomyomatosis and renal cell cancer [RCV001554283]|not provided [RCV002530240] Chr1:241506102 [GRCh38]
Chr1:241669402 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000143.4(FH):c.521C>G (p.Pro174Arg) single nucleotide variant FH-related disorder [RCV003335052]|Fumarase deficiency [RCV000022554]|Fumarase deficiency [RCV003483435]|Hereditary cancer-predisposing syndrome [RCV000492836]|not provided [RCV000078149] Chr1:241512001 [GRCh38]
Chr1:241675301 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records|not provided
NC_000001.11:g.(?_241497603..241519755_?)del deletion Fumarase deficiency [RCV000022555] Chr1:1q42.1 pathogenic
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) single nucleotide variant Fumarase deficiency [RCV000034920]|Fumarase deficiency [RCV004595492]|Hepatocellular carcinoma [RCV002280864]|Hereditary cancer-predisposing syndrome [RCV000163798]|not provided [RCV000199873] Chr1:241502552 [GRCh38]
Chr1:241665852 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) duplication FH-related disorder [RCV004555534]|Fumarase deficiency [RCV000034921]|Hereditary cancer-predisposing syndrome [RCV000164180]|Hereditary leiomyomatosis and renal cell cancer [RCV001762110]|not provided [RCV000034483]|not specified [RCV001000649] Chr1:241497927..241497928 [GRCh38]
Chr1:241661227..241661228 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000143.4(FH):c.793G>A (p.Ala265Thr) single nucleotide variant Fumarase deficiency [RCV000017617] Chr1:241506114 [GRCh38]
Chr1:241669414 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1084G>C (p.Glu362Gln) single nucleotide variant Fumarase deficiency [RCV000017618]|Hereditary cancer-predisposing syndrome [RCV002426509] Chr1:241504066 [GRCh38]
Chr1:241667366 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.301C>T (p.Arg101Ter) single nucleotide variant Fumarase deficiency [RCV000515176]|Hereditary cancer-predisposing syndrome [RCV000130873]|Hereditary leiomyomatosis and renal cell cancer [RCV000017619]|not provided [RCV000199330] Chr1:241513680 [GRCh38]
Chr1:241676980 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.320A>C (p.Asn107Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493777]|Hereditary leiomyomatosis and renal cell cancer [RCV000017620]|not provided [RCV000078148] Chr1:241513661 [GRCh38]
Chr1:241676961 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.671_672del (p.Glu224fs) microsatellite Hereditary leiomyomatosis and renal cell cancer [RCV000017621]|not provided [RCV002513083] Chr1:241508669..241508670 [GRCh38]
Chr1:241671969..241671970 [GRCh37]
Chr1:1q43		 pathogenic
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) single nucleotide variant Fumarase deficiency [RCV003466863]|Hereditary cancer-predisposing syndrome [RCV000130875]|Hereditary leiomyomatosis and renal cell cancer [RCV000017622]|not provided [RCV000197989] Chr1:241504123 [GRCh38]
Chr1:241667423 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.698G>A (p.Arg233His) single nucleotide variant Fumarase deficiency [RCV000178717]|Fumarase deficiency [RCV003330393]|Hereditary cancer-predisposing syndrome [RCV000493379]|Hereditary leiomyomatosis and renal cell cancer [RCV000017623]|See cases [RCV003128387]|Spinocerebellar ataxia 45 [RCV004541007]|not provided [RCV000196988] Chr1:241508643 [GRCh38]
Chr1:241671943 [GRCh37]
Chr1:1q43		 pathogenic|not provided
NM_000143.4(FH):c.698G>T (p.Arg233Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362588]|Hereditary leiomyomatosis and renal cell cancer [RCV000017624]|not provided [RCV001781272] Chr1:241508643 [GRCh38]
Chr1:241671943 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000143.4(FH):c.302G>C (p.Arg101Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433458]|Hereditary leiomyomatosis and renal cell cancer [RCV000017625]|not provided [RCV000489422] Chr1:241513679 [GRCh38]
Chr1:241676979 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000143.4(FH):c.*14A>G single nucleotide variant not specified [RCV003321077] Chr1:241497814 [GRCh38]
Chr1:241661114 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1237-50TC[14] microsatellite not specified [RCV003321082] Chr1:241500603..241500612 [GRCh38]
Chr1:241663903..241663912 [GRCh37]
Chr1:1q43		 likely benign
NM_000143.4(FH):c.1390+17T>C single nucleotide variant not specified [RCV003321080] Chr1:241500420 [GRCh38]