FBP1 (fructose-bisphosphatase 1) - Rat Genome Database

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Gene: FBP1 (fructose-bisphosphatase 1) Homo sapiens
Analyze
Symbol: FBP1
Name: fructose-bisphosphatase 1
RGD ID: 735552
HGNC Page HGNC:3606
Description: Enables several functions, including cation binding activity; fructose 1,6-bisphosphate 1-phosphatase activity; and identical protein binding activity. Involved in several processes, including cellular response to magnesium ion; gluconeogenesis; and negative regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. Implicated in fructose-1,6-bisphosphatase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D-fructose-1,6-bisphosphate 1-phosphohydrolase 1; FBP; FBPase 1; fructose-1,6- biphosphatase 1; fructose-1,6-bisphosphatase 1; growth-inhibiting protein 17; liver FBPase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38994,603,133 - 94,640,263 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl994,603,133 - 94,640,249 (-)EnsemblGRCh38hg38GRCh38
GRCh37997,365,415 - 97,402,545 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36996,405,236 - 96,441,624 (-)NCBINCBI36Build 36hg18NCBI36
Build 34994,444,977 - 94,481,358NCBI
Celera967,806,446 - 67,843,550 (-)NCBICelera
Cytogenetic Map9q22.32NCBI
HuRef966,974,069 - 67,011,150 (-)NCBIHuRef
CHM1_1997,511,867 - 97,548,958 (-)NCBICHM1_1
T2T-CHM13v2.09106,772,462 - 106,809,573 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
apigenin  (EXP)
arsenous acid  (EXP,ISO)
ATP  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
beta-D-fructofuranose 2,6-bisphosphate  (ISO)
bifenthrin  (ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpromazine  (EXP)
chromium trinitrate  (ISO)
chromium(6+)  (ISO)
chrysin  (EXP)
cisplatin  (ISO)
citronellol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucopyranose 6-phosphate  (ISO)
diarsenic trioxide  (EXP,ISO)
diethyl maleate  (ISO)
dimethylarsinic acid  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
glyceraldehyde 3-phosphate  (ISO)
glycidyl methacrylate  (EXP)
glyphosate  (ISO)
hydrazine  (ISO)
inulin  (ISO)
isotretinoin  (EXP)
kaempferol  (EXP)
L-ascorbic acid  (ISO)
L-ethionine  (ISO)
lipopolysaccharide  (EXP)
luteolin  (EXP)
mangiferin  (ISO)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methylarsonic acid  (ISO)
Muraglitazar  (ISO)
myricetin  (EXP)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-nitrosomorpholine  (ISO)
naphthalene  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP)
ochratoxin A  (ISO)
omeprazole  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenic acid  (ISO)
selenium atom  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium chlorate  (ISO)
sodium dichromate  (EXP)
streptozocin  (ISO)
succimer  (EXP)
tamibarotene  (EXP)
taurine  (ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
tunicamycin  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vanillin  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IBA,IEA,ISS,TAS)
extracellular exosome  (HDA)
extracellular space  (IEA,ISO)
nucleus  (IMP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Identification of a genetic mutation in a family with fructose-1,6- bisphosphatase deficiency. Kikawa Y, etal., Biochem Biophys Res Commun. 1995 May 25;210(3):797-804.
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. Mechanism of fat-induced hepatic gluconeogenesis: effect of metformin. Song S, etal., Am J Physiol Endocrinol Metab. 2001 Aug;281(2):E275-82.
11. PROPERTIES OF PHOSPHOFRUCTOKINASE FROM RAT LIVER AND THEIR RELATION TO THE CONTROL OF GLYCOLYSIS AND GLUCONEOGENESIS. UNDERWOOD AH and NEWSHOLME EA, Biochem J. 1965 Jun;95:868-75.
12. Induction and suppression of the key enzymes of glycolysis and gluconeogenesis in isolated perfused rat liver in response to glucose, fructose and lactate. Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56.
13. The expression of FBP1 after traumatic brain injury and its role in astrocyte proliferation. Zhao W, etal., J Mol Neurosci. 2013 Nov;51(3):687-94. doi: 10.1007/s12031-013-0049-x.
Additional References at PubMed
PMID:1846613   PMID:2164670   PMID:2842796   PMID:7558035   PMID:7589895   PMID:7809062   PMID:8125298   PMID:8135811   PMID:8382525   PMID:8387495   PMID:8530070   PMID:9282826  
PMID:9380240   PMID:9382095   PMID:10222032   PMID:12477932   PMID:12507293   PMID:15164053   PMID:15489334   PMID:15965961   PMID:16169070   PMID:16189514   PMID:16275660   PMID:16344560  
PMID:16442285   PMID:18029348   PMID:18375435   PMID:18460190   PMID:18650089   PMID:18660489   PMID:18780768   PMID:18978678   PMID:19056867   PMID:19259699   PMID:19505453   PMID:19626708  
PMID:19881551   PMID:20096900   PMID:20151204   PMID:21044950   PMID:21209200   PMID:21516116   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22039417   PMID:22057438   PMID:22120740  
PMID:22517657   PMID:23251661   PMID:23376485   PMID:23453623   PMID:23533145   PMID:23755305   PMID:23881342   PMID:24007283   PMID:24146906   PMID:24412244   PMID:25043030   PMID:25416956  
PMID:25502805   PMID:25601412   PMID:25844935   PMID:25910212   PMID:26068981   PMID:26186194   PMID:26469968   PMID:26546081   PMID:27079415   PMID:27107014   PMID:27197151   PMID:27742690  
PMID:27780144   PMID:27780225   PMID:27841754   PMID:27978536   PMID:28336726   PMID:28362515   PMID:28387640   PMID:28394358   PMID:28485159   PMID:28514442   PMID:28599390   PMID:28653874  
PMID:28990097   PMID:29016355   PMID:29377004   PMID:29566023   PMID:29678579   PMID:29774539   PMID:29984231   PMID:30097533   PMID:30171256   PMID:30193944   PMID:30201002   PMID:30429463  
PMID:30575818   PMID:30585266   PMID:30945288   PMID:31278438   PMID:31444412   PMID:31515488   PMID:31584309   PMID:31594093   PMID:31804789   PMID:31938049   PMID:31948940   PMID:32041737  
PMID:32073734   PMID:32296183   PMID:32453596   PMID:32472219   PMID:32601971   PMID:32754266   PMID:32814053   PMID:33232284   PMID:33529753   PMID:33961781   PMID:34298040   PMID:34363022  
PMID:34854226   PMID:35179010   PMID:35404841   PMID:35477823   PMID:35653238   PMID:35831314   PMID:36000567   PMID:36050791   PMID:36232688   PMID:36266488   PMID:37285922   PMID:37388727  
PMID:37507483   PMID:37565737   PMID:37908738   PMID:38049890   PMID:38349431   PMID:38496616  


Genomics

Comparative Map Data
FBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38994,603,133 - 94,640,263 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl994,603,133 - 94,640,249 (-)EnsemblGRCh38hg38GRCh38
GRCh37997,365,415 - 97,402,545 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36996,405,236 - 96,441,624 (-)NCBINCBI36Build 36hg18NCBI36
Build 34994,444,977 - 94,481,358NCBI
Celera967,806,446 - 67,843,550 (-)NCBICelera
Cytogenetic Map9q22.32NCBI
HuRef966,974,069 - 67,011,150 (-)NCBIHuRef
CHM1_1997,511,867 - 97,548,958 (-)NCBICHM1_1
T2T-CHM13v2.09106,772,462 - 106,809,573 (-)NCBIT2T-CHM13v2.0
Fbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391363,012,567 - 63,036,112 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1363,012,567 - 63,036,096 (-)EnsemblGRCm39 Ensembl
GRCm381362,864,753 - 62,888,298 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1362,864,753 - 62,888,282 (-)EnsemblGRCm38mm10GRCm38
MGSCv371362,966,113 - 62,989,596 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361362,874,376 - 62,897,859 (-)NCBIMGSCv36mm8
Celera1364,525,124 - 64,552,462 (-)NCBICelera
Cytogenetic Map13B3NCBI
cM Map1332.74NCBI
Fbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8172,212,941 - 2,235,749 (+)NCBIGRCr8
mRatBN7.2172,207,271 - 2,230,076 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl172,208,031 - 2,230,071 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx172,226,670 - 2,248,706 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0173,769,275 - 3,791,309 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0172,224,130 - 2,246,168 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.017396,175 - 417,480 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl17396,180 - 417,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.017391,323 - 412,426 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,795,717 - 7,818,041 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,795,716 - 7,818,038 (+)NCBI
Celera17294,875 - 316,917 (-)NCBICelera
RH 3.4 Map175.6RGD
Cytogenetic Map17p14NCBI
Fbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542221,536,667 - 21,569,433 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542221,537,337 - 21,569,174 (-)NCBIChiLan1.0ChiLan1.0
FBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21144,817,885 - 44,855,493 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1944,820,279 - 44,857,884 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0965,695,082 - 65,731,628 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1993,825,142 - 93,860,968 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl993,825,150 - 93,860,968 (-)Ensemblpanpan1.1panPan2
FBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1172,099,886 - 72,125,266 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl172,099,881 - 72,125,224 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha172,861,998 - 72,887,376 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0172,404,539 - 72,429,921 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl172,404,165 - 72,429,918 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1172,215,481 - 72,240,826 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0171,981,002 - 72,006,401 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0172,686,298 - 72,711,910 (+)NCBIUU_Cfam_GSD_1.0
Fbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049444,327,489 - 4,353,383 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366263,555,762 - 3,581,659 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366263,555,835 - 3,581,651 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1027,588,570 - 27,622,674 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11027,588,609 - 27,622,225 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21031,712,560 - 31,829,432 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.112108,452,856 - 108,484,052 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl12108,453,156 - 108,483,775 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603896,849,781 - 96,881,775 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475316,016,022 - 16,048,104 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475316,019,546 - 16,048,096 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FBP1
271 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) insertion Fructose-biphosphatase deficiency [RCV000000915]|Inborn genetic diseases [RCV002512628] Chr9:94603437..94603438 [GRCh38]
Chr9:97365719..97365720 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) single nucleotide variant Fructose-biphosphatase deficiency [RCV000000916] Chr9:94609998 [GRCh38]
Chr9:97372280 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp) single nucleotide variant Fructose-biphosphatase deficiency [RCV000000917] Chr9:94609958 [GRCh38]
Chr9:97372240 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV000000918] Chr9:94639223 [GRCh38]
Chr9:97401505 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser) single nucleotide variant Fructose-biphosphatase deficiency [RCV000000919] Chr9:94606939 [GRCh38]
Chr9:97369221 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.851C>G (p.Pro284Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV000000920] Chr9:94603547 [GRCh38]
Chr9:97365829 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1 copy number loss See cases [RCV000052916] Chr9:91596533..97018746 [GRCh38]
Chr9:94358815..99781028 [GRCh37]
Chr9:93398636..98820849 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3 copy number gain See cases [RCV000053773] Chr9:92561720..98122580 [GRCh38]
Chr9:95324002..100884862 [GRCh37]
Chr9:94363823..99924683 [NCBI36]
Chr9:9q22.31-22.33		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV000661945] Chr9:94603557 [GRCh38]
Chr9:97365839 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.141G>C (p.Ser47=) single nucleotide variant Fructose-biphosphatase deficiency [RCV002514669]|not specified [RCV000125094] Chr9:94639170 [GRCh38]
Chr9:97401452 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.237C>T (p.Asn79=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000314619]|not specified [RCV000125095] Chr9:94620425 [GRCh38]
Chr9:97382707 [GRCh37]
Chr9:9q22.32		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.276G>T (p.Thr92=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000395409]|not specified [RCV000125096] Chr9:94620386 [GRCh38]
Chr9:97382668 [GRCh37]
Chr9:9q22.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) single nucleotide variant Fructose-biphosphatase deficiency [RCV000631045]|not specified [RCV000125097] Chr9:94606823 [GRCh38]
Chr9:97369105 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.826-15G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV001165564]|not specified [RCV000125098] Chr9:94603587 [GRCh38]
Chr9:97365869 [GRCh37]
Chr9:9q22.32		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.826-9G>C single nucleotide variant Fructose-biphosphatase deficiency [RCV000966283]|not specified [RCV000125099] Chr9:94603581 [GRCh38]
Chr9:97365863 [GRCh37]
Chr9:9q22.32		 benign|likely benign
GRCh37/hg19 9q22.32(chr9:97401423-97401592) copy number loss Fructose-biphosphatase deficiency [RCV003236724] Chr9:97401423..97401592 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q22.31-22.32(chr9:93574616-95115422)x4 copy number gain See cases [RCV000138068] Chr9:93574616..95115422 [GRCh38]
Chr9:96336898..97877704 [GRCh37]
Chr9:95376719..96917525 [NCBI36]
Chr9:9q22.31-22.32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167163]|Inborn genetic diseases [RCV003343690] Chr9:94606852 [GRCh38]
Chr9:97369134 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.334-15T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV000349707]|not specified [RCV000200733] Chr9:94617875 [GRCh38]
Chr9:97380157 [GRCh37]
Chr9:9q22.32		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167738] Chr9:94610011 [GRCh38]
Chr9:97372293 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000507.4(FBP1):c.976C>G (p.Leu326Val) single nucleotide variant not specified [RCV000197347] Chr9:94603422 [GRCh38]
Chr9:97365704 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) single nucleotide variant FBP1-related condition [RCV003967518]|Fructose-biphosphatase deficiency [RCV000991167]|not provided [RCV000197614] Chr9:94605552 [GRCh38]
Chr9:97367834 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) single nucleotide variant Fructose-biphosphatase deficiency [RCV000456119]|not provided [RCV000198086] Chr9:94617839 [GRCh38]
Chr9:97380121 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) single nucleotide variant Fructose-biphosphatase deficiency [RCV000285901]|not specified [RCV000198991] Chr9:94606850 [GRCh38]
Chr9:97369132 [GRCh37]
Chr9:9q22.32		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.865A>T (p.Met289Leu) single nucleotide variant FBP1-related condition [RCV003947632]|Fructose-biphosphatase deficiency [RCV001087746]|not provided [RCV000513932]|not specified [RCV000195497] Chr9:94603533 [GRCh38]
Chr9:97365815 [GRCh37]
Chr9:9q22.32		 pathogenic|benign|likely benign
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) single nucleotide variant Fructose-biphosphatase deficiency [RCV000814352]|not provided [RCV000195635] Chr9:94620387 [GRCh38]
Chr9:97382669 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.496G>A (p.Ala166Thr) single nucleotide variant not provided [RCV000195672] Chr9:94609992 [GRCh38]
Chr9:97372274 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_001127628.2(FBP1):c.-40G>C single nucleotide variant not specified [RCV000199220] Chr9:94640059 [GRCh38]
Chr9:97402341 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.458C>A (p.Ala153Asp) single nucleotide variant not provided [RCV000199948] Chr9:94610030 [GRCh38]
Chr9:97372312 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn) single nucleotide variant Fructose-biphosphatase deficiency [RCV001253933]|not provided [RCV000200164] Chr9:94603428 [GRCh38]
Chr9:97365710 [GRCh37]
Chr9:9q22.32		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.651C>T (p.Ala217=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000405782]|not provided [RCV001707574]|not specified [RCV000246106] Chr9:94606869 [GRCh38]
Chr9:97369151 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.705+14C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000320852]|not provided [RCV001711547]|not specified [RCV000253990] Chr9:94606801 [GRCh38]
Chr9:97369083 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.567+31G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV001701807]|not provided [RCV001711546]|not specified [RCV000254296] Chr9:94609890 [GRCh38]
Chr9:97372172 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.960A>G (p.Gly320=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000329413]|not provided [RCV001668436]|not specified [RCV000242276] Chr9:94603438 [GRCh38]
Chr9:97365720 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.426+7C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000282422]|not provided [RCV001675691]|not specified [RCV000249607] Chr9:94617761 [GRCh38]
Chr9:97380043 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.334-17C>A single nucleotide variant Fructose-biphosphatase deficiency [RCV002518579]|not specified [RCV000243226] Chr9:94617877 [GRCh38]
Chr9:97380159 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-44_706-41del microsatellite not provided [RCV001618388]|not specified [RCV000245781] Chr9:94605617..94605620 [GRCh38]
Chr9:97367899..97367902 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.*21C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000269719]|not provided [RCV001668435]|not specified [RCV000248284] Chr9:94603360 [GRCh38]
Chr9:97365642 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV000336163]|not provided [RCV001651130]|not specified [RCV000250848] Chr9:94606867 [GRCh38]
Chr9:97369149 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln) single nucleotide variant Fructose-biphosphatase deficiency [RCV000284599] Chr9:94605551 [GRCh38]
Chr9:97367833 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.102G>C (p.Leu34=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000369278]|not provided [RCV001706616] Chr9:94639209 [GRCh38]
Chr9:97401491 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu) single nucleotide variant Fructose-biphosphatase deficiency [RCV000395425]|Inborn genetic diseases [RCV002523821] Chr9:94639297 [GRCh38]
Chr9:97401579 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.3(FBP1):c.-215G>C single nucleotide variant Fructose-biphosphatase deficiency [RCV000267989] Chr9:94639525 [GRCh38]
Chr9:97401807 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.-194C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000303215]|not provided [RCV001613243] Chr9:94639504 [GRCh38]
Chr9:97401786 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.3(FBP1):c.-219C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000323118] Chr9:94639529 [GRCh38]
Chr9:97401811 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.3(FBP1):c.-238G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV000372857] Chr9:94639548 [GRCh38]
Chr9:97401830 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.-154C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV000271068] Chr9:94639464 [GRCh38]
Chr9:97401746 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.-54C>A single nucleotide variant Fructose-biphosphatase deficiency [RCV000306358] Chr9:94639364 [GRCh38]
Chr9:97401646 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu) single nucleotide variant Fructose-biphosphatase deficiency [RCV000380136] Chr9:94606823 [GRCh38]
Chr9:97369105 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.3(FBP1):c.-246G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000259715] Chr9:94639556 [GRCh38]
Chr9:97401838 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.-208C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV000357937] Chr9:94639518 [GRCh38]
Chr9:97401800 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala) single nucleotide variant Fructose-biphosphatase deficiency [RCV000383686] Chr9:94603509 [GRCh38]
Chr9:97365791 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.*248del deletion Fructose-biphosphatase deficiency [RCV000364153]|not provided [RCV001683456] Chr9:94603133 [GRCh38]
Chr9:97365415 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.-59A>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000365574] Chr9:94639369 [GRCh38]
Chr9:97401651 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.840C>T (p.Tyr280=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003114443]|not provided [RCV000287652] Chr9:94603558 [GRCh38]
Chr9:97365840 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000507.4(FBP1):c.267del (p.Phe90fs) deletion not provided [RCV000489247] Chr9:94620395 [GRCh38]
Chr9:97382677 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1 copy number loss VATER association [RCV000519767] Chr9:97290466..97419146 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.705+5G>A single nucleotide variant not provided [RCV001567384] Chr9:94606810 [GRCh38]
Chr9:97369092 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_001127628.2(FBP1):c.-24-321C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV000401135] Chr9:94639655 [GRCh38]
Chr9:97401937 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs) indel FBP1-related condition [RCV003922670]|Fructose-biphosphatase deficiency [RCV003235200]|not provided [RCV000413288] Chr9:94603438 [GRCh38]
Chr9:97365720 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.906C>T (p.Ala302=) single nucleotide variant FBP1-related condition [RCV003912616]|Fructose-biphosphatase deficiency [RCV001253959]|not provided [RCV001712191] Chr9:94603492 [GRCh38]
Chr9:97365774 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.826-15G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV001165563]|not specified [RCV000441818] Chr9:94603587 [GRCh38]
Chr9:97365869 [GRCh37]
Chr9:9q22.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.345G>A (p.Val115=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495127]|not specified [RCV000428040] Chr9:94617849 [GRCh38]
Chr9:97380131 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.*4C>T single nucleotide variant not specified [RCV000438454] Chr9:94603377 [GRCh38]
Chr9:97365659 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.32-22.33(chr9:97355862-99805480)x1 copy number loss See cases [RCV000445766] Chr9:97355862..99805480 [GRCh37]
Chr9:9q22.32-22.33		 pathogenic
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV000681449]|not provided [RCV000432051] Chr9:94603557 [GRCh38]
Chr9:97365839 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.78C>T (p.Arg26=) single nucleotide variant not specified [RCV000440750] Chr9:94639233 [GRCh38]
Chr9:97401515 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.324G>A (p.Pro108=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003766262]|not specified [RCV000426724] Chr9:94620338 [GRCh38]
Chr9:97382620 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) deletion Fructose-biphosphatase deficiency [RCV000456113] Chr9:94605553..94605562 [GRCh38]
Chr9:97367835..97367844 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.825+1G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV000456114] Chr9:94605456 [GRCh38]
Chr9:97367738 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.704del (p.Pro235fs) deletion Fructose-biphosphatase deficiency [RCV000456121] Chr9:94606816 [GRCh38]
Chr9:97369098 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) duplication Fructose-biphosphatase deficiency [RCV001261613]|not provided [RCV000482146] Chr9:94639191..94639192 [GRCh38]
Chr9:97401473..97401474 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.880G>A (p.Gly294Arg) single nucleotide variant not provided [RCV000485443] Chr9:94603518 [GRCh38]
Chr9:97365800 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV000509439] Chr9:94609947 [GRCh38]
Chr9:97372229 [GRCh37]
Chr9:9q22.32		 not provided
GRCh37/hg19 9q22.32-22.33(chr9:96732332-100175689)x1 copy number loss See cases [RCV000510346] Chr9:96732332..100175689 [GRCh37]
Chr9:9q22.32-22.33		 pathogenic
NM_000507.4(FBP1):c.495C>A (p.Tyr165Ter) single nucleotide variant not provided [RCV000492962] Chr9:94609993 [GRCh38]
Chr9:97372275 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.242T>C (p.Leu81Pro) single nucleotide variant Inborn genetic diseases [RCV003277468] Chr9:94620420 [GRCh38]
Chr9:97382702 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.779del (p.Gly260fs) deletion Fructose-biphosphatase deficiency [RCV000631043] Chr9:94605503 [GRCh38]
Chr9:97367785 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic|uncertain significance
NM_000507.4(FBP1):c.705A>G (p.Pro235=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167162]|not specified [RCV000615049] Chr9:94606815 [GRCh38]
Chr9:97369097 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000507.4(FBP1):c.170+7C>G single nucleotide variant not specified [RCV000600551] Chr9:94639134 [GRCh38]
Chr9:97401416 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.825+14C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003600385]|not specified [RCV000612967] Chr9:94605443 [GRCh38]
Chr9:97367725 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.195C>T (p.Asn65=) single nucleotide variant Fructose-biphosphatase deficiency [RCV002528850] Chr9:94620467 [GRCh38]
Chr9:97382749 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.915C>T (p.Asp305=) single nucleotide variant Fructose-biphosphatase deficiency [RCV000888296]|not provided [RCV003424184]|not specified [RCV000609089] Chr9:94603483 [GRCh38]
Chr9:97365765 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_000507.4(FBP1):c.798C>T (p.Pro266=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495166]|not specified [RCV000605833] Chr9:94605484 [GRCh38]
Chr9:97367766 [GRCh37]
Chr9:9q22.32		 benign|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.206A>G (p.Asp69Gly) single nucleotide variant Abnormality of acid-base homeostasis [RCV000626694] Chr9:94620456 [GRCh38]
Chr9:97382738 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.966del (p.Asp323fs) deletion Fructose-biphosphatase deficiency [RCV000661978] Chr9:94603432 [GRCh38]
Chr9:97365714 [GRCh37]
Chr9:9q22.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) deletion Fructose-biphosphatase deficiency [RCV000681446]|not provided [RCV000731102] Chr9:94606906..94606909 [GRCh38]
Chr9:97369188..97369191 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.426+1G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV000681445] Chr9:94617767 [GRCh38]
Chr9:97380049 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV000681447] Chr9:94617845 [GRCh38]
Chr9:97380127 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NC_000009.12:g.94620330_94620492del deletion Fructose-biphosphatase deficiency [RCV000681448] Chr9:94620329..94620491 [GRCh38]
Chr9:97382611..97382773 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp) single nucleotide variant Fructose-biphosphatase deficiency [RCV000681450]|not provided [RCV003480759] Chr9:94610016 [GRCh38]
Chr9:97372298 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) single nucleotide variant FBP1-related condition [RCV003918122]|Fructose-biphosphatase deficiency [RCV000681451] Chr9:94605504 [GRCh38]
Chr9:97367786 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser) single nucleotide variant Fructose-biphosphatase deficiency [RCV000699706] Chr9:94620391 [GRCh38]
Chr9:97382673 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.916G>A (p.Val306Ile) single nucleotide variant Fructose-biphosphatase deficiency [RCV000697603]|Inborn genetic diseases [RCV003163220] Chr9:94603482 [GRCh38]
Chr9:97365764 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.1_170del (p.Met1fs) deletion Fructose-biphosphatase deficiency [RCV000760155] Chr9:94639141..94639310 [GRCh38]
Chr9:97401423..97401592 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.357T>A (p.Asp119Glu) single nucleotide variant not provided [RCV000762564] Chr9:94617837 [GRCh38]
Chr9:97380119 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.-130C>A single nucleotide variant Fructose-biphosphatase deficiency [RCV001165638] Chr9:94639440 [GRCh38]
Chr9:97401722 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.12:g.(?_94639121)_(94639330_?)del deletion Fructose-biphosphatase deficiency [RCV001032065] Chr9:97401403..97401612 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.309C>A (p.Ala103=) single nucleotide variant not provided [RCV000899599] Chr9:94620353 [GRCh38]
Chr9:97382635 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV001058500] Chr9:94606943 [GRCh38]
Chr9:97369225 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.544del (p.Val182fs) deletion Fructose-biphosphatase deficiency [RCV001036487] Chr9:94609944 [GRCh38]
Chr9:97372226 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000507.4(FBP1):c.777C>T (p.Tyr259=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495198] Chr9:94605505 [GRCh38]
Chr9:97367787 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.306C>T (p.His102=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001440795] Chr9:94620356 [GRCh38]
Chr9:97382638 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro) single nucleotide variant Fructose-biphosphatase deficiency [RCV000815785] Chr9:94603421 [GRCh38]
Chr9:97365703 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.835C>T (p.Leu279=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001165561] Chr9:94603563 [GRCh38]
Chr9:97365845 [GRCh37]
Chr9:9q22.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.826-7T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV001165562] Chr9:94603579 [GRCh38]
Chr9:97365861 [GRCh37]
Chr9:9q22.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_000507.4(FBP1):c.-18G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV001165637] Chr9:94639328 [GRCh38]
Chr9:97401610 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167736] Chr9:94606871 [GRCh38]
Chr9:97369153 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.443C>A (p.Pro148His) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167739] Chr9:94610045 [GRCh38]
Chr9:97372327 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.397G>A (p.Val133Ile) single nucleotide variant Fructose-biphosphatase deficiency [RCV001169610] Chr9:94617797 [GRCh38]
Chr9:97380079 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.721T>C (p.Tyr241His) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167161] Chr9:94605561 [GRCh38]
Chr9:97367843 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu) single nucleotide variant Fructose-biphosphatase deficiency [RCV001165565] Chr9:94605518 [GRCh38]
Chr9:97367800 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.427-8T>G single nucleotide variant not provided [RCV000914056] Chr9:94610069 [GRCh38]
Chr9:97372351 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.978C>T (p.Leu326=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495202] Chr9:94603420 [GRCh38]
Chr9:97365702 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly) single nucleotide variant Fructose-biphosphatase deficiency [RCV001065156] Chr9:94603427 [GRCh38]
Chr9:97365709 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.495C>T (p.Tyr165=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001167737] Chr9:94609993 [GRCh38]
Chr9:97372275 [GRCh37]
Chr9:9q22.32		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q22.32(chr9:97401423-97401593) copy number loss Fructose-biphosphatase deficiency [RCV001195144] Chr9:97401423..97401593 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.881G>T (p.Gly294Val) single nucleotide variant Fructose-biphosphatase deficiency [RCV003317769] Chr9:94603517 [GRCh38]
Chr9:97365799 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NC_000009.12:g.94640275A>G single nucleotide variant not provided [RCV001713321] Chr9:94640275 [GRCh38]
Chr9:97402557 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.826-22G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV001702920]|not provided [RCV001569888] Chr9:94603594 [GRCh38]
Chr9:97365876 [GRCh37]
Chr9:9q22.32		 benign|likely benign
NM_000507.4(FBP1):c.567+141G>A single nucleotide variant not provided [RCV001613878] Chr9:94609780 [GRCh38]
Chr9:97372062 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.826-131C>T single nucleotide variant not provided [RCV001609312] Chr9:94603703 [GRCh38]
Chr9:97365985 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV001227520] Chr9:94606901 [GRCh38]
Chr9:97369183 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.427-133G>C single nucleotide variant not provided [RCV001720800] Chr9:94610194 [GRCh38]
Chr9:97372476 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.426+92G>A single nucleotide variant not provided [RCV001677557] Chr9:94617676 [GRCh38]
Chr9:97379958 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.*152C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV001167675] Chr9:94603229 [GRCh38]
Chr9:97365511 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.*127C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV001167676] Chr9:94603254 [GRCh38]
Chr9:97365536 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.*121T>G single nucleotide variant Fructose-biphosphatase deficiency [RCV001167677]|not provided [RCV001556466] Chr9:94603260 [GRCh38]
Chr9:97365542 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
NM_001127628.2(FBP1):c.-25+109G>C single nucleotide variant not provided [RCV001669841] Chr9:94639935 [GRCh38]
Chr9:97402217 [GRCh37]
Chr9:9q22.32		 benign
NM_001127628.2(FBP1):c.-25+313_-25+314insTTGG insertion not provided [RCV001713324] Chr9:94639730..94639731 [GRCh38]
Chr9:97402012..97402013 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.333+114C>T single nucleotide variant not provided [RCV001610108] Chr9:94620215 [GRCh38]
Chr9:97382497 [GRCh37]
Chr9:9q22.32		 benign
NC_000009.12:g.94640341C>A single nucleotide variant not provided [RCV001668820] Chr9:94640341 [GRCh38]
Chr9:97402623 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe) single nucleotide variant Fructose-biphosphatase deficiency [RCV001169611] Chr9:94639142 [GRCh38]
Chr9:97401424 [GRCh37]
Chr9:9q22.32		 uncertain significance
Single allele duplication Hiatus hernia [RCV001095544] Chr9:96226955..97320408 [GRCh37]
Chr9:9q22.31-22.32		 likely pathogenic
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV001253932] Chr9:94603401 [GRCh38]
Chr9:97365683 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr) single nucleotide variant Fructose-biphosphatase deficiency [RCV001301022] Chr9:94605483 [GRCh38]
Chr9:97367765 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln) single nucleotide variant Fructose-biphosphatase deficiency [RCV001374064] Chr9:94610037 [GRCh38]
Chr9:97372319 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.663C>T (p.Asp221=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001506117] Chr9:94606857 [GRCh38]
Chr9:97369139 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.745A>C (p.Met249Leu) single nucleotide variant Fructose-biphosphatase deficiency [RCV001426970]|not provided [RCV003481108] Chr9:94605537 [GRCh38]
Chr9:97367819 [GRCh37]
Chr9:9q22.32		 likely benign|uncertain significance
NM_000507.4(FBP1):c.170+4del deletion Fructose-biphosphatase deficiency [RCV002250882] Chr9:94639137 [GRCh38]
Chr9:97401419 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.639C>T (p.Asn213=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001436500] Chr9:94606881 [GRCh38]
Chr9:97369163 [GRCh37]
Chr9:9q22.32		 likely benign
NM_001127628.2(FBP1):c.-25+335A>T single nucleotide variant not provided [RCV001716836] Chr9:94639709 [GRCh38]
Chr9:97401991 [GRCh37]
Chr9:9q22.32		 benign
NM_001127628.2(FBP1):c.-25+92G>A single nucleotide variant not provided [RCV001713322] Chr9:94639952 [GRCh38]
Chr9:97402234 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.498A>C (p.Ala166=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001393841] Chr9:94609990 [GRCh38]
Chr9:97372272 [GRCh37]
Chr9:9q22.32		 likely benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_000507.4(FBP1):c.426+1G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV001783266] Chr9:94617767 [GRCh38]
Chr9:97380049 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.392del (p.Val131fs) deletion Fructose-biphosphatase deficiency [RCV001783267] Chr9:94617802 [GRCh38]
Chr9:97380084 [GRCh37]
Chr9:9q22.32		 pathogenic
NC_000009.11:g.(?_97365663)_(97401592_?)dup duplication Fructose-biphosphatase deficiency [RCV001875010] Chr9:97365663..97401592 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_97365663)_(97372363_?)dup duplication Fructose-biphosphatase deficiency [RCV001988256] Chr9:97365663..97372363 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.825+96G>A single nucleotide variant not provided [RCV001847387] Chr9:94605361 [GRCh38]
Chr9:97367643 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser) single nucleotide variant Fructose-biphosphatase deficiency [RCV002017696] Chr9:94606856 [GRCh38]
Chr9:97369138 [GRCh37]
Chr9:9q22.32		 uncertain significance
NC_000009.11:g.(?_97365663)_(99064386_?)dup duplication not provided [RCV001943145] Chr9:97365663..99064386 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.567G>A (p.Pro189=) single nucleotide variant Fructose-biphosphatase deficiency [RCV001902627]|not provided [RCV003481163] Chr9:94609921 [GRCh38]
Chr9:97372203 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.985C>A (p.Leu329Met) single nucleotide variant Fructose-biphosphatase deficiency [RCV001995547] Chr9:94603413 [GRCh38]
Chr9:97365695 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV001994826] Chr9:94639184 [GRCh38]
Chr9:97401466 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.763C>T (p.Arg255Cys) single nucleotide variant Fructose-biphosphatase deficiency [RCV002049084] Chr9:94605519 [GRCh38]
Chr9:97367801 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.818A>G (p.Asn273Ser) single nucleotide variant Fructose-biphosphatase deficiency [RCV002190510] Chr9:94605464 [GRCh38]
Chr9:97367746 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.606G>A (p.Lys202=) single nucleotide variant Fructose-biphosphatase deficiency [RCV002097750]|not provided [RCV002512173] Chr9:94606914 [GRCh38]
Chr9:97369196 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.171-6C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV002096859] Chr9:94620497 [GRCh38]
Chr9:97382779 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro) single nucleotide variant Fructose-biphosphatase deficiency [RCV002249045] Chr9:94603412 [GRCh38]
Chr9:97365694 [GRCh37]
Chr9:9q22.32		 pathogenic|likely pathogenic
NM_000507.4(FBP1):c.474G>C (p.Arg158=) single nucleotide variant Fructose-biphosphatase deficiency [RCV002202412] Chr9:94610014 [GRCh38]
Chr9:97372296 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu) single nucleotide variant Fructose-biphosphatase deficiency [RCV003121406] Chr9:94620339 [GRCh38]
Chr9:97382621 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.170+4A>G single nucleotide variant Fructose-biphosphatase deficiency [RCV002287286] Chr9:94639137 [GRCh38]
Chr9:97401419 [GRCh37]
Chr9:9q22.32		 likely pathogenic
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
NM_000507.4(FBP1):c.676G>A (p.Glu226Lys) single nucleotide variant Inborn genetic diseases [RCV003295242] Chr9:94606844 [GRCh38]
Chr9:97369126 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu) single nucleotide variant Fructose-biphosphatase deficiency [RCV002468707] Chr9:94603517 [GRCh38]
Chr9:97365799 [GRCh37]
Chr9:9q22.32		 pathogenic
GRCh37/hg19 9q22.32(chr9:97150648-97477837)x3 copy number gain not provided [RCV002474655] Chr9:97150648..97477837 [GRCh37]
Chr9:9q22.32		 uncertain significance
GRCh37/hg19 9q22.31-22.32(chr9:95711603-98469214)x1 copy number loss not provided [RCV002474678] Chr9:95711603..98469214 [GRCh37]
Chr9:9q22.31-22.32		 pathogenic
GRCh37/hg19 9q22.32(chr9:97281155-97456120)x1 copy number loss not provided [RCV002474738] Chr9:97281155..97456120 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.171-4630_171-4629insTCACTTTATTTTATTTTTTTTTTTTTGGAGACGGGAAGTCTCGCTTGTCGCCAGGATGGAGTGCAGTGGCGCAATCTCGGCTCAATGCAGGCTCCGACCCCCTGGGGTTCACGCCATTCTCCTGCCTGCAGACTCCGAGTAGCTGGGACTACAGGCGCCCGCCCACTCGCCCGGCTAATTTTTTTGTGTATTTTTAGTAGAGACGGGGTTCACCGTTGTGTTGAGCCAGGATGGTCTCGATCTCCCTGACCTCGGCTCCGCCCGTATCTTCGGGACTCCCAAAGTGTGGAGAGATTACAGGCGTGAGCCACCGCGGCCACGGCCTA insertion Schizophrenia [RCV002463549] Chr9:94625120..94625121 [GRCh38]
Chr9:97387402..97387403 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV002299915] Chr9:94609961 [GRCh38]
Chr9:97372243 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.926C>A (p.Thr309Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV002726231] Chr9:94603472 [GRCh38]
Chr9:97365754 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.489C>T (p.Ala163=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003002025] Chr9:94609999 [GRCh38]
Chr9:97372281 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val) indel Fructose-biphosphatase deficiency [RCV002890339] Chr9:94603438..94603439 [GRCh38]
Chr9:97365720..97365721 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.978C>G (p.Leu326=) single nucleotide variant Fructose-biphosphatase deficiency [RCV002671516] Chr9:94603420 [GRCh38]
Chr9:97365702 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg) single nucleotide variant Fructose-biphosphatase deficiency [RCV002833753] Chr9:94610009 [GRCh38]
Chr9:97372291 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.704C>T (p.Pro235Leu) single nucleotide variant Fructose-biphosphatase deficiency [RCV002937083] Chr9:94606816 [GRCh38]
Chr9:97369098 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.705+18G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV002633992] Chr9:94606797 [GRCh38]
Chr9:97369079 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.1009G>T (p.Ala337Ser) single nucleotide variant Inborn genetic diseases [RCV002723592] Chr9:94603389 [GRCh38]
Chr9:97365671 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.1012del (p.Gln338fs) deletion Fructose-biphosphatase deficiency [RCV003069050] Chr9:94603386 [GRCh38]
Chr9:97365668 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.47G>A (p.Arg16His) single nucleotide variant Inborn genetic diseases [RCV003210749] Chr9:94639264 [GRCh38]
Chr9:97401546 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.76C>T (p.Arg26Cys) single nucleotide variant Inborn genetic diseases [RCV003218022] Chr9:94639235 [GRCh38]
Chr9:97401517 [GRCh37]
Chr9:9q22.32		 uncertain significance
NM_000507.4(FBP1):c.333+2T>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003328530] Chr9:94620327 [GRCh38]
Chr9:97382609 [GRCh37]
Chr9:9q22.32		 pathogenic
Single allele deletion Fructose-biphosphatase deficiency [RCV003328531] Chr9:97401422..97401800 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.171-4G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003880648] Chr9:94620495 [GRCh38]
Chr9:97382777 [GRCh37]
Chr9:9q22.32		 likely benign
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_000507.4(FBP1):c.170+761C>G single nucleotide variant not provided [RCV003430137] Chr9:94638380 [GRCh38]
Chr9:97400662 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600061] Chr9:94620337 [GRCh38]
Chr9:97382619 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.222G>C (p.Leu74=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003599902] Chr9:94620440 [GRCh38]
Chr9:97382722 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.426+14T>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003599957] Chr9:94617754 [GRCh38]
Chr9:97380036 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.504T>C (p.Tyr168=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003831440] Chr9:94609984 [GRCh38]
Chr9:97372266 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.39C>T (p.Thr13=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601908] Chr9:94639272 [GRCh38]
Chr9:97401554 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.66C>G (p.Gly22=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600863] Chr9:94639245 [GRCh38]
Chr9:97401527 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.30C>T (p.Asp10=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602510] Chr9:94639281 [GRCh38]
Chr9:97401563 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.334-17C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003494831] Chr9:94617877 [GRCh38]
Chr9:97380159 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.171-20G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003600590] Chr9:94620511 [GRCh38]
Chr9:97382793 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.360C>G (p.Pro120=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601836] Chr9:94617834 [GRCh38]
Chr9:97380116 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.312C>A (p.Ile104=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602026] Chr9:94620350 [GRCh38]
Chr9:97382632 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.396C>T (p.Ser132=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600998] Chr9:94617798 [GRCh38]
Chr9:97380080 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.170+7C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003600850] Chr9:94639134 [GRCh38]
Chr9:97401416 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.456T>C (p.Asp152=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600920] Chr9:94610032 [GRCh38]
Chr9:97372314 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.984C>T (p.Phe328=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602098] Chr9:94603414 [GRCh38]
Chr9:97365696 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.427-15TCTT[3] microsatellite Fructose-biphosphatase deficiency [RCV003602178] Chr9:94610068..94610069 [GRCh38]
Chr9:97372350..97372351 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.288G>A (p.Val96=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601071] Chr9:94620374 [GRCh38]
Chr9:97382656 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.586T>C (p.Leu196=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602247] Chr9:94606934 [GRCh38]
Chr9:97369216 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.961dup (p.Ser321fs) duplication Fructose-biphosphatase deficiency [RCV003601515] Chr9:94603436..94603437 [GRCh38]
Chr9:97365718..97365719 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.282_289del (p.Leu95fs) deletion Fructose-biphosphatase deficiency [RCV003600141] Chr9:94620373..94620380 [GRCh38]
Chr9:97382655..97382662 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.1008T>C (p.Ser336=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600054] Chr9:94603390 [GRCh38]
Chr9:97365672 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.472C>A (p.Arg158=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601604] Chr9:94610016 [GRCh38]
Chr9:97372298 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys) indel Fructose-biphosphatase deficiency [RCV003602046] Chr9:94606867..94606869 [GRCh38]
Chr9:97369149..97369151 [GRCh37]
Chr9:9q22.32		 benign
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600187] Chr9:94605559 [GRCh38]
Chr9:97367841 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.288G>T (p.Val96=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600935] Chr9:94620374 [GRCh38]
Chr9:97382656 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.63G>A (p.Glu21=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600151] Chr9:94639248 [GRCh38]
Chr9:97401530 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.849C>T (p.Asn283=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600979] Chr9:94603549 [GRCh38]
Chr9:97365831 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.312C>T (p.Ile104=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601668] Chr9:94620350 [GRCh38]
Chr9:97382632 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.369A>C (p.Gly123=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003494879] Chr9:94617825 [GRCh38]
Chr9:97380107 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.334-12T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003600235] Chr9:94617872 [GRCh38]
Chr9:97380154 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.576G>A (p.Gly192=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495845] Chr9:94606944 [GRCh38]
Chr9:97369226 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.87C>A (p.Gly29=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003496423] Chr9:94639224 [GRCh38]
Chr9:97401506 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.567+9C>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003600636] Chr9:94609912 [GRCh38]
Chr9:97372194 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.477C>T (p.Asn159=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601107] Chr9:94610011 [GRCh38]
Chr9:97372293 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-12C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003600592] Chr9:94605588 [GRCh38]
Chr9:97367870 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.168C>T (p.His56=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495883] Chr9:94639143 [GRCh38]
Chr9:97401425 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.633C>T (p.Ser211=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601784] Chr9:94606887 [GRCh38]
Chr9:97369169 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.216G>A (p.Lys72=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600651] Chr9:94620446 [GRCh38]
Chr9:97382728 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.468A>G (p.Pro156=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601177] Chr9:94610020 [GRCh38]
Chr9:97372302 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.860_863dup (p.Met289fs) duplication Fructose-biphosphatase deficiency [RCV003601812] Chr9:94603534..94603535 [GRCh38]
Chr9:97365816..97365817 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.501G>A (p.Leu167=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601438] Chr9:94609987 [GRCh38]
Chr9:97372269 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.333+8T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003600630] Chr9:94620321 [GRCh38]
Chr9:97382603 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.894T>C (p.Thr298=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003877209] Chr9:94603504 [GRCh38]
Chr9:97365786 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.334-5C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003600667] Chr9:94617865 [GRCh38]
Chr9:97380147 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.559C>T (p.Leu187=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601241] Chr9:94609929 [GRCh38]
Chr9:97372211 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.390T>C (p.Leu130=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003877328] Chr9:94617804 [GRCh38]
Chr9:97380086 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-10T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003496672] Chr9:94605586 [GRCh38]
Chr9:97367868 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.91T>C (p.Leu31=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601164] Chr9:94639220 [GRCh38]
Chr9:97401502 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.84G>C (p.Thr28=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601911] Chr9:94639227 [GRCh38]
Chr9:97401509 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-9A>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003600211] Chr9:94605585 [GRCh38]
Chr9:97367867 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.741C>T (p.Gly247=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600749] Chr9:94605541 [GRCh38]
Chr9:97367823 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.27G>C (p.Thr9=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601245] Chr9:94639284 [GRCh38]
Chr9:97401566 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.450G>A (p.Glu150=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601655] Chr9:94610038 [GRCh38]
Chr9:97372320 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.170+19G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003602055] Chr9:94639122 [GRCh38]
Chr9:97401404 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601677] Chr9:94609984 [GRCh38]
Chr9:97372266 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.826-12C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003495431] Chr9:94603584 [GRCh38]
Chr9:97365866 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.960del (p.Ser321fs) deletion Fructose-biphosphatase deficiency [RCV003600817] Chr9:94603438 [GRCh38]
Chr9:97365720 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.96C>A (p.Thr32=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600299] Chr9:94639215 [GRCh38]
Chr9:97401497 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.426+7_426+23del deletion Fructose-biphosphatase deficiency [RCV003600319] Chr9:94617745..94617761 [GRCh38]
Chr9:97380027..97380043 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.171-17G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003600923] Chr9:94620508 [GRCh38]
Chr9:97382790 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.630C>T (p.Tyr210=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003600484] Chr9:94606890 [GRCh38]
Chr9:97369172 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.705+20G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003602027] Chr9:94606795 [GRCh38]
Chr9:97369077 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.285C>T (p.Leu95=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003494799] Chr9:94620377 [GRCh38]
Chr9:97382659 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.520C>T (p.Leu174=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601004] Chr9:94609968 [GRCh38]
Chr9:97372250 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.120A>G (p.Thr40=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601457] Chr9:94639191 [GRCh38]
Chr9:97401473 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.381C>T (p.Ile127=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601885] Chr9:94617813 [GRCh38]
Chr9:97380095 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.740dup (p.Ser248fs) duplication Fructose-biphosphatase deficiency [RCV003602114] Chr9:94605541..94605542 [GRCh38]
Chr9:97367823..97367824 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.81C>T (p.Gly27=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602476] Chr9:94639230 [GRCh38]
Chr9:97401512 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.903G>A (p.Glu301=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003494898] Chr9:94603495 [GRCh38]
Chr9:97365777 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.343_347del (p.Val115fs) deletion Fructose-biphosphatase deficiency [RCV003495777] Chr9:94617847..94617851 [GRCh38]
Chr9:97380129..97380133 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.705+9G>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003495791] Chr9:94606806 [GRCh38]
Chr9:97369088 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.669C>T (p.Ala223=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601895] Chr9:94606851 [GRCh38]
Chr9:97369133 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.837G>A (p.Leu279=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003494940] Chr9:94603561 [GRCh38]
Chr9:97365843 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.333+16C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003494943] Chr9:94620313 [GRCh38]
Chr9:97382595 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.568-13C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003600615] Chr9:94606965 [GRCh38]
Chr9:97369247 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.228C>T (p.Val76=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601096] Chr9:94620434 [GRCh38]
Chr9:97382716 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.705+16G>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003601110] Chr9:94606799 [GRCh38]
Chr9:97369081 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.846C>T (p.Cys282=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601511] Chr9:94603552 [GRCh38]
Chr9:97365834 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.276G>A (p.Thr92=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003601961] Chr9:94620386 [GRCh38]
Chr9:97382668 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.861C>T (p.Tyr287=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602141] Chr9:94603537 [GRCh38]
Chr9:97365819 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.705+14C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003600655] Chr9:94606801 [GRCh38]
Chr9:97369083 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.801T>C (p.Ala267=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602189] Chr9:94605481 [GRCh38]
Chr9:97367763 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.648C>T (p.Tyr216=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003602021] Chr9:94606872 [GRCh38]
Chr9:97369154 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.826-17C>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003877067] Chr9:94603589 [GRCh38]
Chr9:97365871 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.42G>A (p.Leu14=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495938] Chr9:94639269 [GRCh38]
Chr9:97401551 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.170+9G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003600732] Chr9:94639132 [GRCh38]
Chr9:97401414 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.171-11G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003494886] Chr9:94620502 [GRCh38]
Chr9:97382784 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.171-11G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003876321] Chr9:94620502 [GRCh38]
Chr9:97382784 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.762T>C (p.His254=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003496081] Chr9:94605520 [GRCh38]
Chr9:97367802 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.426+14T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003496134] Chr9:94617754 [GRCh38]
Chr9:97380036 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.333+17A>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003495073] Chr9:94620312 [GRCh38]
Chr9:97382594 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.342T>C (p.Tyr114=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495872] Chr9:94617852 [GRCh38]
Chr9:97380134 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.672C>T (p.Val224=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003496541] Chr9:94606848 [GRCh38]
Chr9:97369130 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.846C>A (p.Cys282Ter) single nucleotide variant Fructose-biphosphatase deficiency [RCV003495910] Chr9:94603552 [GRCh38]
Chr9:97365834 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.186T>C (p.Gly62=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003494807] Chr9:94620476 [GRCh38]
Chr9:97382758 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.597G>A (p.Lys199=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003882183] Chr9:94606923 [GRCh38]
Chr9:97369205 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-11T>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003881355] Chr9:94605587 [GRCh38]
Chr9:97367869 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.567+15A>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003496082] Chr9:94609906 [GRCh38]
Chr9:97372188 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.951G>T (p.Val317=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003496768] Chr9:94603447 [GRCh38]
Chr9:97365729 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys) single nucleotide variant Fructose-biphosphatase deficiency [RCV003496392] Chr9:94606881 [GRCh38]
Chr9:97369163 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.426+8G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003497142] Chr9:94617760 [GRCh38]
Chr9:97380042 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.426+20G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003497202] Chr9:94617748 [GRCh38]
Chr9:97380030 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.366T>C (p.Asp122=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003851402] Chr9:94617828 [GRCh38]
Chr9:97380110 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.826-16C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003497325] Chr9:94603588 [GRCh38]
Chr9:97365870 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.144G>T (p.Ala48=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003851697] Chr9:94639167 [GRCh38]
Chr9:97401449 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.435T>A (p.Thr145=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003840153] Chr9:94610053 [GRCh38]
Chr9:97372335 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.131_132del (p.Ala44fs) deletion Fructose-biphosphatase deficiency [RCV003496818] Chr9:94639179..94639180 [GRCh38]
Chr9:97401461..97401462 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.144G>A (p.Ala48=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497048] Chr9:94639167 [GRCh38]
Chr9:97401449 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.900G>A (p.Lys300=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497138] Chr9:94603498 [GRCh38]
Chr9:97365780 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.573C>T (p.Ile191=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003816916] Chr9:94606947 [GRCh38]
Chr9:97369229 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.426+12T>C single nucleotide variant Fructose-biphosphatase deficiency [RCV003816086] Chr9:94617756 [GRCh38]
Chr9:97380038 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.825+7G>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003833582] Chr9:94605450 [GRCh38]
Chr9:97367732 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.706-4G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003496913] Chr9:94605580 [GRCh38]
Chr9:97367862 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.969C>T (p.Asp323=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497064] Chr9:94603429 [GRCh38]
Chr9:97365711 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.948G>A (p.Pro316=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497291] Chr9:94603450 [GRCh38]
Chr9:97365732 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.420T>C (p.Tyr140=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003837315] Chr9:94617774 [GRCh38]
Chr9:97380056 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.56dup (p.Met19fs) duplication Fructose-biphosphatase deficiency [RCV003496910] Chr9:94639254..94639255 [GRCh38]
Chr9:97401536..97401537 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.825+11C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003497016] Chr9:94605446 [GRCh38]
Chr9:97367728 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.729C>T (p.Ala243=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497287] Chr9:94605553 [GRCh38]
Chr9:97367835 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.183T>C (p.Ala61=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003855112] Chr9:94620479 [GRCh38]
Chr9:97382761 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.405C>T (p.Thr135=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497088] Chr9:94617789 [GRCh38]
Chr9:97380071 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.138T>C (p.Ser46=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003497119] Chr9:94639173 [GRCh38]
Chr9:97401455 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.981G>A (p.Glu327=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003849739] Chr9:94603417 [GRCh38]
Chr9:97365699 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.972C>T (p.Asp324=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003850915] Chr9:94603426 [GRCh38]
Chr9:97365708 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.705+15G>A single nucleotide variant Fructose-biphosphatase deficiency [RCV003866487] Chr9:94606800 [GRCh38]
Chr9:97369082 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.170+18C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003846935] Chr9:94639123 [GRCh38]
Chr9:97401405 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.39C>A (p.Thr13=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003844375] Chr9:94639272 [GRCh38]
Chr9:97401554 [GRCh37]
Chr9:9q22.32		 likely benign
GRCh37/hg19 9q22.32(chr9:96614972-98444423)x1 copy number loss not specified [RCV003986837] Chr9:96614972..98444423 [GRCh37]
Chr9:9q22.32		 pathogenic
NM_000507.4(FBP1):c.396C>A (p.Ser132=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003871147] Chr9:94617798 [GRCh38]
Chr9:97380080 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.966C>T (p.Pro322=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003871228] Chr9:94603432 [GRCh38]
Chr9:97365714 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.225C>T (p.Asp75=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003871664] Chr9:94620437 [GRCh38]
Chr9:97382719 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.333+16C>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003868385] Chr9:94620313 [GRCh38]
Chr9:97382595 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.333+15C>T single nucleotide variant Fructose-biphosphatase deficiency [RCV003869605] Chr9:94620314 [GRCh38]
Chr9:97382596 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.156G>C (p.Ala52=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003871610] Chr9:94639155 [GRCh38]
Chr9:97401437 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.945G>A (p.Ala315=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003870671] Chr9:94603453 [GRCh38]
Chr9:97365735 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.427-2A>G single nucleotide variant Fructose-biphosphatase deficiency [RCV003859110] Chr9:94610063 [GRCh38]
Chr9:97372345 [GRCh37]
Chr9:9q22.32		 likely pathogenic
NM_000507.4(FBP1):c.957G>A (p.Leu319=) single nucleotide variant Fructose-biphosphatase deficiency [RCV003820309] Chr9:94603441 [GRCh38]
Chr9:97365723 [GRCh37]
Chr9:9q22.32		 likely benign
NM_000507.4(FBP1):c.223G>A (p.Asp75Asn) single nucleotide variant not provided [RCV003887116] Chr9:94620439 [GRCh38]
Chr9:97382721 [GRCh37]
Chr9:9q22.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:664
Count of miRNA genes:443
Interacting mature miRNAs:510
Transcripts:ENST00000375326, ENST00000414122, ENST00000415431
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
GDB:583921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,379,092 - 97,379,268UniSTSGRCh37
Build 36996,418,913 - 96,419,089RGDNCBI36
Celera967,820,121 - 67,820,297RGD
Cytogenetic Map9q22.3UniSTS
HuRef966,987,768 - 66,987,946UniSTS
SHGC-147916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,381,565 - 97,381,877UniSTSGRCh37
Build 36996,421,386 - 96,421,698RGDNCBI36
Celera967,822,589 - 67,822,901RGD
Cytogenetic Map9q22.3UniSTS
HuRef966,990,239 - 66,990,551UniSTS
RH109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,365,497 - 97,365,596UniSTSGRCh37
Build 36996,405,318 - 96,405,417RGDNCBI36
Celera967,806,527 - 67,806,626RGD
Cytogenetic Map9q22.3UniSTS
HuRef966,974,150 - 66,974,249UniSTS
GeneMap99-GB4 RH Map9307.02UniSTS
SHGC-12730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37997,365,426 - 97,365,652UniSTSGRCh37
Build 36996,405,247 - 96,405,473RGDNCBI36
Celera967,806,456 - 67,806,682RGD
Cytogenetic Map9q22.3UniSTS
Stanford-G3 RH Map93223.0UniSTS
NCBI RH Map9789.7UniSTS
GeneMap99-G3 RH Map93121.0UniSTS
GDB:311304  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22.3UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High 27 27 27 3
Medium 971 847 1532 553 1166 409 857 16 398 328 435 1403 147 719 264
Low 1433 1855 149 37 325 22 2882 1373 2721 50 941 95 21 485 1982 2 1
Below cutoff 21 282 5 3 215 3 571 774 561 18 51 70 2 540 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB003492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF073475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY544122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY866483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D26056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA962803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB907234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB964552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC964643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HD021962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000375326   ⟹   ENSP00000364475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl994,603,133 - 94,639,518 (-)Ensembl
RefSeq Acc Id: ENST00000414122   ⟹   ENSP00000411619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl994,606,815 - 94,640,137 (-)Ensembl
RefSeq Acc Id: ENST00000415431   ⟹   ENSP00000408025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl994,603,141 - 94,640,249 (-)Ensembl
RefSeq Acc Id: ENST00000648117   ⟹   ENSP00000498145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl994,603,133 - 94,638,413 (-)Ensembl
RefSeq Acc Id: ENST00000682520   ⟹   ENSP00000507547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl994,603,134 - 94,639,310 (-)Ensembl
RefSeq Acc Id: NM_000507   ⟹   NP_000498
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38994,603,133 - 94,639,518 (-)NCBI
GRCh37997,365,415 - 97,402,531 (-)ENTREZGENE
Build 36996,405,236 - 96,441,624 (-)NCBI Archive
HuRef966,974,069 - 67,011,150 (-)ENTREZGENE
CHM1_1997,511,867 - 97,548,350 (-)NCBI
T2T-CHM13v2.09106,772,462 - 106,808,828 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001127628   ⟹   NP_001121100
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38994,603,133 - 94,640,263 (-)NCBI
GRCh37997,365,415 - 97,402,531 (-)ENTREZGENE
HuRef966,974,069 - 67,011,150 (-)ENTREZGENE
CHM1_1997,511,867 - 97,548,958 (-)NCBI
T2T-CHM13v2.09106,772,462 - 106,809,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717005   ⟹   XP_006717068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38994,603,133 - 94,640,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054362329   ⟹   XP_054218304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09106,772,462 - 106,809,563 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001121100 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218304 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35517 (Get FASTA)   NCBI Sequence Viewer  
  AAA35817 (Get FASTA)   NCBI Sequence Viewer  
  AAA89097 (Get FASTA)   NCBI Sequence Viewer  
  AAA89098 (Get FASTA)   NCBI Sequence Viewer  
  AAC25774 (Get FASTA)   NCBI Sequence Viewer  
  AAC50207 (Get FASTA)   NCBI Sequence Viewer  
  AAH12927 (Get FASTA)   NCBI Sequence Viewer  
  AAT11153 (Get FASTA)   NCBI Sequence Viewer  
  AAW34363 (Get FASTA)   NCBI Sequence Viewer  
  BAA05051 (Get FASTA)   NCBI Sequence Viewer  
  BAA05052 (Get FASTA)   NCBI Sequence Viewer  
  BAA05053 (Get FASTA)   NCBI Sequence Viewer  
  BAD97115 (Get FASTA)   NCBI Sequence Viewer  
  BAF84888 (Get FASTA)   NCBI Sequence Viewer  
  BAF91908 (Get FASTA)   NCBI Sequence Viewer  
  BAG38171 (Get FASTA)   NCBI Sequence Viewer  
  CBF86692 (Get FASTA)   NCBI Sequence Viewer  
  CBG16870 (Get FASTA)   NCBI Sequence Viewer  
  CBV02277 (Get FASTA)   NCBI Sequence Viewer  
  CBV30316 (Get FASTA)   NCBI Sequence Viewer  
  EAW92617 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364475
  ENSP00000364475.5
  ENSP00000408025
  ENSP00000408025.1
  ENSP00000411619.1
  ENSP00000498145.1
  ENSP00000507547.1
GenBank Protein P09467 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001121100   ⟸   NM_001127628
- UniProtKB: Q53F94 (UniProtKB/Swiss-Prot),   O75571 (UniProtKB/Swiss-Prot),   Q96E46 (UniProtKB/Swiss-Prot),   P09467 (UniProtKB/Swiss-Prot),   Q2TU34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000498   ⟸   NM_000507
- UniProtKB: Q53F94 (UniProtKB/Swiss-Prot),   O75571 (UniProtKB/Swiss-Prot),   Q96E46 (UniProtKB/Swiss-Prot),   P09467 (UniProtKB/Swiss-Prot),   Q2TU34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006717068   ⟸   XM_006717005
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IUC7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498145   ⟸   ENST00000648117
RefSeq Acc Id: ENSP00000411619   ⟸   ENST00000414122
RefSeq Acc Id: ENSP00000364475   ⟸   ENST00000375326
RefSeq Acc Id: ENSP00000408025   ⟸   ENST00000415431
RefSeq Acc Id: ENSP00000507547   ⟸   ENST00000682520
RefSeq Acc Id: XP_054218304   ⟸   XM_054362329
- Peptide Label: isoform X1
Protein Domains
Fructose-1-6-bisphosphatase class 1 C-terminal   Fructose-1-6-bisphosphatase class I N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09467-F1-model_v2 AlphaFold P09467 1-338 view protein structure

Promoters
RGD ID:7215543
Promoter ID:EPDNEW_H13518
Type:initiation region
Name:FBP1_1
Description:fructose-bisphosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13519  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38994,639,511 - 94,639,571EPDNEW
RGD ID:7215545
Promoter ID:EPDNEW_H13519
Type:initiation region
Name:FBP1_2
Description:fructose-bisphosphatase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13518  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38994,640,288 - 94,640,348EPDNEW
RGD ID:6807684
Promoter ID:HG_KWN:64132
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000053187
Position:
Human AssemblyChrPosition (strand)Source
Build 36996,441,311 - 96,441,982 (-)MPROMDB
RGD ID:6850630
Promoter ID:EP73109
Type:initiation region
Name:HS_FBP1
Description:Fructose-1,6-bisphosphatase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36996,441,614 - 96,441,674EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3606 AgrOrtholog
COSMIC FBP1 COSMIC
Ensembl Genes ENSG00000165140 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000375326 ENTREZGENE
  ENST00000375326.9 UniProtKB/Swiss-Prot
  ENST00000414122.1 UniProtKB/TrEMBL
  ENST00000415431 ENTREZGENE
  ENST00000415431.5 UniProtKB/Swiss-Prot
  ENST00000648117.1 UniProtKB/TrEMBL
  ENST00000682520.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.190.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fructose-1,6-Bisphosphatase, subunit A, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165140 GTEx
HGNC ID HGNC:3606 ENTREZGENE
Human Proteome Map FBP1 Human Proteome Map
InterPro FBPase_C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBPase_class-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBPase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBPtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fructose_bisphosphatase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2203 UniProtKB/Swiss-Prot
NCBI Gene 2203 ENTREZGENE
OMIM 611570 OMIM
PANTHER FRUCTOSE-1,6-BISPHOSPHATASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11556 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FBPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28018 PharmGKB
PIRSF FBPtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FBPtase_SBPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F16BPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FBPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Carbohydrate phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IUC7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJK9_HUMAN UniProtKB/TrEMBL
  F16P1_HUMAN UniProtKB/Swiss-Prot
  O75571 ENTREZGENE
  P09467 ENTREZGENE
  Q2TU34 ENTREZGENE, UniProtKB/TrEMBL
  Q53F94 ENTREZGENE
  Q5VZC3_HUMAN UniProtKB/TrEMBL
  Q96E46 ENTREZGENE
UniProt Secondary O75571 UniProtKB/Swiss-Prot
  Q53F94 UniProtKB/Swiss-Prot
  Q96E46 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 FBP1  fructose-bisphosphatase 1  FBP1  fructose-1,6-bisphosphatase 1  Symbol and/or name change 5135510 APPROVED