G6PC1 (glucose-6-phosphatase catalytic subunit 1) - Rat Genome Database

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Gene: G6PC1 (glucose-6-phosphatase catalytic subunit 1) Homo sapiens
Analyze
Symbol: G6PC1
Name: glucose-6-phosphatase catalytic subunit 1
RGD ID: 736011
HGNC Page HGNC
Description: Exhibits glucose-6-phosphatase activity and phosphate ion binding activity. Involved in gluconeogenesis and glucose homeostasis. Localizes to integral component of membrane. Implicated in hepatocellular carcinoma. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: G-6-Pase; G6Pase; G6Pase-alpha; G6PC; G6PT; glucose-6-phosphatase; glucose-6-phosphatase alpha; glucose-6-phosphatase catalytic subunit; glucose-6-phosphatase, catalytic subunit; GSD1; GSD1a; MGC163350
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
GRCh38.p13 Ensembl1742,900,797 - 42,914,438 (+)EnsemblGRCh38hg38GRCh38
GRCh381742,900,799 - 42,914,438 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371741,052,816 - 41,066,455 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,306,341 - 38,318,912 (+)NCBINCBI36hg18NCBI36
Build 341738,306,340 - 38,318,912NCBI
Celera1737,708,948 - 37,721,525 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1736,817,624 - 36,831,212 (+)NCBIHuRef
CHM1_11741,288,425 - 41,302,053 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(E)-thiamethoxam  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-\{2-[(4-chlorobenzyl)sulfanyl]-2-(2,4-dichlorophenyl)ethyl\}-1H-imidazole  (EXP)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-(4-hydroxyphenyl)ethanol  (ISO)
2-acetamidofluorene  (ISO)
3',5'-cyclic AMP  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-(4-chlorophenyl)imidazo[2,1-b][1,3]thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime  (EXP)
acephate  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (EXP,ISO)
alloxan  (ISO)
aluminium phosphide  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
anthracen-2-amine  (ISO)
aristolochic acid  (ISO)
arsenous acid  (ISO)
atorvastatin calcium  (EXP)
azoxystrobin  (EXP)
bacitracin  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bosentan  (EXP)
bucladesine  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbamazepine  (ISO)
carbendazim  (EXP)
cefaloridine  (ISO)
chloroacetic acid  (ISO)
chlorpyrifos  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (ISO)
citronellol  (ISO)
clemizole  (EXP)
clofibrate  (ISO)
clopidogrel  (EXP)
cobalt dichloride  (ISO)
colforsin daropate hydrochloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP,ISO)
cyprodinil  (EXP)
D-glucose  (EXP,ISO)
dehydroepiandrosterone  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
diethyl maleate  (ISO)
difenoconazole  (EXP)
digoxigenin  (EXP)
dimethomorph  (EXP)
disodium selenite  (ISO)
doramapimod  (ISO)
duvoglustat  (ISO)
ebselen  (ISO)
endosulfan  (EXP)
enilconazole  (EXP)
epoxiconazole  (EXP)
erythromycin estolate  (ISO)
esculetin  (ISO)
ethanol  (ISO)
ethoprophos  (EXP)
felbamate  (ISO)
fenofibrate  (EXP)
fenpyroximate  (EXP)
fipronil  (EXP)
fludioxonil  (EXP)
flusilazole  (EXP)
flutamide  (ISO)
fluvastatin  (EXP)
fluxapyroxad  (EXP)
folic acid  (ISO)
folpet  (ISO)
fructose  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gabapentin  (ISO)
gentamycin  (ISO)
ginsenoside Re  (EXP)
glafenine  (ISO)
glucagon  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
GW 4064  (ISO)
hexadecanoic acid  (ISO)
indole-3-methanol  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
ketoconazole  (ISO)
L-methionine  (ISO)
lamivudine  (ISO)
Lasiocarpine  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (ISO)
maneb  (EXP)
mercury dichloride  (ISO)
metformin  (ISO)
methapyrilene  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
Mitotane  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naringin  (ISO)
nefazodone  (ISO)
nickel dichloride  (ISO)
nicotinamide  (ISO)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
oleic acid  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
penconazole  (ISO)
perfluorononanoic acid  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
plumbagin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (EXP)
progesterone  (EXP,ISO)
propiconazole  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rebaudioside A  (ISO)
resveratrol  (ISO)
rifampicin  (EXP)
rotenone  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
steviol  (ISO)
stevioside  (ISO)
streptozocin  (ISO)
strophanthidin  (EXP)
sucrose  (ISO)
sulconazole  (EXP)
taurine  (ISO)
tauroursodeoxycholic acid  (ISO)
tebuconazole  (EXP)
teriflunomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thiamethoxam  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
tungstate  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (ISO)
vancomycin  (ISO)
wortmannin  (EXP)
zidovudine  (ISO)
zinc dichloride  (ISO)

References

References - curated
1. Clar J, etal., Kidney Int. 2014 Oct;86(4):747-56. doi: 10.1038/ki.2014.102. Epub 2014 Apr 9.
2. Clore JN, etal., Diabetes. 2000 Jun;49(6):969-74.
3. Eid A, etal., J Am Soc Nephrol. 2006 Feb;17(2):398-405. Epub 2006 Jan 5.
4. Fujimoto Y, etal., Am J Physiol Endocrinol Metab. 2004 Sep;287(3):E414-23. Epub 2004 May 11.
5. GOA_HUMAN data from the GO Consortium
6. KEGG
7. Kim GY, etal., Mol Genet Metab. 2017 Mar;120(3):229-234. doi: 10.1016/j.ymgme.2017.01.003. Epub 2017 Jan 10.
8. Kong Q, etal., Int J Mol Med. 2016 Dec;38(6):1715-1726. doi: 10.3892/ijmm.2016.2799. Epub 2016 Nov 10.
9. Leibowitz A, etal., Nutrients. 2018 Mar 12;10(3). pii: nu10030341. doi: 10.3390/nu10030341.
10. Monteillet L, etal., Mol Metab. 2018 Oct;16:100-115. doi: 10.1016/j.molmet.2018.07.006. Epub 2018 Aug 1.
11. Nakamura T, etal., J Gastroenterol Hepatol. 2001 Dec;16(12):1402-8.
12. Nishikawa T, etal., J Hepatol. 2014 Jun;60(6):1203-11. doi: 10.1016/j.jhep.2014.02.014. Epub 2014 Feb 26.
13. OMIM Disease Annotation Pipeline
14. Online Mendelian Inheritance in Man, OMIM (TM).
15. Osumek JE, etal., Reprod Sci. 2014 Jan;21(1):112-21. doi: 10.1177/1933719113492212. Epub 2013 Jun 6.
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
18. Pipeline to import SMPDB annotations from SMPDB into RGD
19. Ramesh B, etal., J Med Food. 2005 Fall;8(3):377-81.
20. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. RGD automated import pipeline for gene-chemical interactions
22. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Shingu R, etal., Res Commun Mol Pathol Pharmacol 1996 Jul;93(1):13-24.
24. Song S, etal., Am J Physiol Endocrinol Metab. 2001 Aug;281(2):E275-82.
25. Vuguin P, etal., Diabetes. 2004 Oct;53(10):2617-22.
26. Wang T, etal., Toxicology. 2017 Apr 1;380:38-49. doi: 10.1016/j.tox.2017.02.005. Epub 2017 Feb 8.
27. Wimhurst JM and Manchester KL, Biochem J. 1973 May;134(1):143-56.
28. Yamashita H, etal., Pediatr Res. 2003 Mar;53(3):411-8.
29. Yiu WH, etal., Mol Ther. 2010 Jun;18(6):1076-84. doi: 10.1038/mt.2010.64. Epub 2010 Apr 13.
30. Yonamine CY, etal., Nutr Metab (Lond). 2016 Jun 29;13:44. doi: 10.1186/s12986-016-0103-0. eCollection 2016.
31. Zorzoli A, etal., Biochem J. 1969 Jan;111(2):181-5.
Additional References at PubMed
PMID:175958   PMID:212064   PMID:2172641   PMID:2547044   PMID:2986020   PMID:7573034   PMID:7623438   PMID:7655466   PMID:7668282   PMID:7774924   PMID:8182131   PMID:8211187  
PMID:8612793   PMID:8640227   PMID:8733042   PMID:9001800   PMID:9332655   PMID:9428641   PMID:9675154   PMID:9705299   PMID:10023055   PMID:10024523   PMID:10026167   PMID:10094563  
PMID:10318794   PMID:10447271   PMID:10452914   PMID:10612834   PMID:10748407   PMID:10960498   PMID:11672436   PMID:11739393   PMID:12093795   PMID:12189168   PMID:12373566   PMID:12444104  
PMID:12477932   PMID:12556524   PMID:12560945   PMID:13129915   PMID:14718531   PMID:14759518   PMID:15316959   PMID:15661744   PMID:15696478   PMID:15918042   PMID:16892178   PMID:16893891  
PMID:17354259   PMID:18008183   PMID:18449899   PMID:18660489   PMID:18805788   PMID:18847435   PMID:19082990   PMID:19587243   PMID:19832742   PMID:20004937   PMID:20301489   PMID:20509832  
PMID:21109326   PMID:21328436   PMID:21733854   PMID:21873635   PMID:21983240   PMID:21988832   PMID:23465595   PMID:23755305   PMID:24355556   PMID:24980439   PMID:25001192   PMID:26556724  
PMID:26958868   PMID:27428080   PMID:28223045   PMID:28360385   PMID:28502559   PMID:28829278   PMID:29987620   PMID:30626647   PMID:30890478   PMID:32814053  


Genomics

Comparative Map Data
G6PC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1742,900,797 - 42,914,438 (+)EnsemblGRCh38hg38GRCh38
GRCh381742,900,799 - 42,914,438 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371741,052,816 - 41,066,455 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361738,306,341 - 38,318,912 (+)NCBINCBI36hg18NCBI36
Build 341738,306,340 - 38,318,912NCBI
Celera1737,708,948 - 37,721,525 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1736,817,624 - 36,831,212 (+)NCBIHuRef
CHM1_11741,288,425 - 41,302,053 (+)NCBICHM1_1
G6pc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911101,258,542 - 101,268,729 (+)NCBIGRCm39mm39
GRCm39 Ensembl11101,258,387 - 101,268,729 (+)Ensembl
GRCm3811101,367,716 - 101,377,903 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11101,367,561 - 101,377,903 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711101,229,044 - 101,239,217 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611102,147,317 - 102,157,491 (+)NCBImm8
MGSCv3611101,183,820 - 101,193,993 (+)NCBImm8
Cytogenetic Map11DNCBI
G6pc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21086,307,400 - 86,318,766 (+)NCBI
Rnor_6.0 Ensembl1089,285,855 - 89,296,213 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01089,286,009 - 89,296,213 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01089,084,064 - 89,094,265 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41090,393,531 - 90,403,485 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11090,407,938 - 90,417,855 (+)NCBI
Celera1085,025,492 - 85,036,580 (+)NCBICelera
RH 3.4 Map10837.1RGD
Cytogenetic Map10q31NCBI
G6pc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545116,672,979 - 16,680,001 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545116,672,512 - 16,680,001 (+)NCBIChiLan1.0ChiLan1.0
G6PC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11714,635,667 - 14,646,674 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1714,635,667 - 14,646,674 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01714,407,355 - 14,419,660 (-)NCBIMhudiblu_PPA_v0panPan3
G6PC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1920,132,973 - 20,143,642 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl920,132,978 - 20,143,642 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha919,594,513 - 19,605,089 (-)NCBI
ROS_Cfam_1.0920,851,596 - 20,862,184 (-)NCBI
UMICH_Zoey_3.1919,636,449 - 19,647,026 (-)NCBI
UNSW_CanFamBas_1.0919,902,743 - 19,913,338 (-)NCBI
UU_Cfam_GSD_1.0920,005,407 - 20,015,994 (-)NCBI
G6pc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560219,459,203 - 19,469,287 (-)NCBI
SpeTri2.0NW_00493649017,605,865 - 17,614,754 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
G6PC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1219,962,934 - 19,976,050 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11219,965,885 - 19,975,783 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
G6PC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11663,380,921 - 63,392,122 (-)NCBI
ChlSab1.1 Ensembl1663,381,382 - 63,391,540 (-)Ensembl
G6pc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247951,331,592 - 1,339,575 (-)NCBI

Position Markers
SGC35243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,063,473 - 41,063,673UniSTSGRCh37
Build 361738,316,999 - 38,317,199RGDNCBI36
Celera1737,719,612 - 37,719,812RGD
Cytogenetic Map17q21UniSTS
HuRef1736,828,243 - 36,828,443UniSTS
GeneMap99-GB4 RH Map17306.23UniSTS
Whitehead-RH Map17344.6UniSTS
NCBI RH Map17352.4UniSTS
RH17972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371741,065,156 - 41,065,292UniSTSGRCh37
Build 361738,318,682 - 38,318,818RGDNCBI36
Celera1737,721,295 - 37,721,431RGD
Cytogenetic Map17q21UniSTS
HuRef1736,829,918 - 36,830,054UniSTS
GeneMap99-GB4 RH Map17308.91UniSTS
NCBI RH Map17510.3UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
G38154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12UniSTS
Cytogenetic Map3q26.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR23Ahsa-miR-23a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22318941

Predicted Target Of
Summary Value
Count of predictions:1993
Count of miRNA genes:930
Interacting mature miRNAs:1097
Transcripts:ENST00000253801, ENST00000585489, ENST00000588481, ENST00000592383
Prediction methods:Microtar, Miranda, Pita, 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.


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
High 7 7 7
Medium 71 1 407 407 67 409 93 1
Low 100 40 27 24 103 24 10 5 4 128 32 11 10 4
Below cutoff 1366 1724 714 94 796 15 2344 1024 1905 99 893 859 84 750 1556

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000253801   ⟹   ENSP00000253801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,900,799 - 42,914,438 (+)Ensembl
RefSeq Acc Id: ENST00000585489   ⟹   ENSP00000466202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,900,800 - 42,911,488 (+)Ensembl
RefSeq Acc Id: ENST00000588481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,900,812 - 42,904,239 (+)Ensembl
RefSeq Acc Id: ENST00000592383   ⟹   ENSP00000465958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1742,900,797 - 42,911,336 (+)Ensembl
RefSeq Acc Id: NM_000151   ⟹   NP_000142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,900,799 - 42,914,438 (+)NCBI
GRCh371741,052,814 - 41,066,450 (+)NCBI
Build 361738,306,341 - 38,318,912 (+)NCBI Archive
HuRef1736,817,624 - 36,831,212 (+)NCBI
CHM1_11741,288,425 - 41,302,053 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270397   ⟹   NP_001257326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,900,799 - 42,914,438 (+)NCBI
GRCh371741,052,814 - 41,066,450 (+)NCBI
HuRef1736,817,624 - 36,831,212 (+)NCBI
CHM1_11741,288,425 - 41,302,053 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000142   ⟸   NM_000151
- Peptide Label: isoform 1
- UniProtKB: P35575 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257326   ⟸   NM_001270397
- Peptide Label: isoform 2
- UniProtKB: P35575 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000253801   ⟸   ENST00000253801
RefSeq Acc Id: ENSP00000466202   ⟸   ENST00000585489
RefSeq Acc Id: ENSP00000465958   ⟸   ENST00000592383
Protein Domains
acidPPc

Promoters
RGD ID:7235149
Promoter ID:EPDNEW_H23320
Type:multiple initiation site
Name:G6PC_1
Description:glucose-6-phosphatase catalytic subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381742,900,799 - 42,900,859EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_000151.4(G6PC1):c.689T>C (p.Leu230Pro) single nucleotide variant not provided [RCV000722747] Chr17:42911041 [GRCh38]
Chr17:41063058 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.244C>T (p.Gln82Ter) single nucleotide variant not provided [RCV000722808] Chr17:42903944 [GRCh38]
Chr17:41055961 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.230+4A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012782] Chr17:42901110 [GRCh38]
Chr17:41053127 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012783]|not provided [RCV000723833] Chr17:42911000 [GRCh38]
Chr17:41063017 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.377_378TA[3] (p.Tyr128fs) microsatellite Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012777]|not provided [RCV000417779] Chr17:42907558..42907559 [GRCh38]
Chr17:41059575..41059576 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) single nucleotide variant Glycogen storage disease [RCV000360229]|Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012778]|Short stature [RCV000626623]|not provided [RCV000424594] Chr17:42903947 [GRCh38]
Chr17:41055964 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012779]|not provided [RCV000725438] Chr17:42911235 [GRCh38]
Chr17:41063252 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) single nucleotide variant Glycogen storage disease [RCV001027894]|Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012780]|not provided [RCV000199372] Chr17:42911391 [GRCh38]
Chr17:41063408 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012781] Chr17:42901105 [GRCh38]
Chr17:41053122 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012784]|not specified [RCV000507730] Chr17:42900989 [GRCh38]
Chr17:41053006 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012785] Chr17:42904028 [GRCh38]
Chr17:41056045 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012786] Chr17:42907552 [GRCh38]
Chr17:41059569 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012787] Chr17:42909407 [GRCh38]
Chr17:41061424 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012788] Chr17:42909418 [GRCh38]
Chr17:41061435 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012789] Chr17:42911374 [GRCh38]
Chr17:41063391 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000012790] Chr17:42909353 [GRCh38]
Chr17:41061370 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.248G>A (p.Arg83His) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000020132] Chr17:42903948 [GRCh38]
Chr17:41055965 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.3(G6PC):c.378_379dupAT (p.Tyr128Thrfs) duplication Glucose-6-phosphate transport defect [RCV000020133] Chr17:42907560..42907561 [GRCh38]
Chr17:41059577..41059578 [GRCh37]
Chr17:17q21.31
pathogenic
G6PC:c.648G>T (p.Leu216Leu=) single nucleotide variant Glucose-6-phosphate transport defect [RCV000020136] Chr17:42911000 [GRCh38]
Chr17:41063017 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000239641] Chr17:42911076 [GRCh38]
Chr17:41063093 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.79del (p.Gln27fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000173073]|not provided [RCV000199426] Chr17:42900953 [GRCh38]
Chr17:41052970 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000239699] Chr17:42911161 [GRCh38]
Chr17:41063178 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.3(G6PC):c.979_981delTTC (p.Phe327del) deletion Glucose-6-phosphate transport defect [RCV000020140]|Glycogen storage disease type 1A [RCV000239683] Chr17:42911331..42911333 [GRCh38]
Chr17:41063348..41063350 [GRCh37]
Chr17:17q21.31
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_000151.3(G6PC):c.750G>A (p.Trp250Ter) single nucleotide variant Malignant melanoma [RCV000063225] Chr17:42911102 [GRCh38]
Chr17:41063119 [GRCh37]
Chr17:38316645 [NCBI36]
Chr17:17q21.31
not provided
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001004607] Chr17:42909394 [GRCh38]
Chr17:41061411 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.3(G6PC):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV000125158] Chr17:42900879 [GRCh38]
Chr17:41052896 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.-45G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000359277]|not specified [RCV000125159] Chr17:42900832 [GRCh38]
Chr17:41052849 [GRCh37]
Chr17:17q21.31
benign|uncertain significance
NM_000151.4(G6PC1):c.355C>G (p.His119Asp) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001293638] Chr17:42907537 [GRCh38]
Chr17:41059554 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001293639] Chr17:42909324 [GRCh38]
Chr17:41061341 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001293645] Chr17:42909406 [GRCh38]
Chr17:41061423 [GRCh37]
Chr17:17q21.31
pathogenic
Single allele duplication Glycogen storage disease type 1A [RCV000176994] Chr17:41059579..41059580 [GRCh37] pathogenic
NM_000151.4(G6PC1):c.208del (p.Trp70fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001293640] Chr17:42901084 [GRCh38]
Chr17:41053101 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001296755] Chr17:42903956 [GRCh38]
Chr17:41055973 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001270397.2(G6PC1):c.*57G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000133395] Chr17:42911017 [GRCh38]
Chr17:41063034 [GRCh37]
Chr17:17q21.31
not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000169104]|not provided [RCV000726277] Chr17:42911321 [GRCh38]
Chr17:41063338 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000169319] Chr17:42911364 [GRCh38]
Chr17:41063381 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000169341] Chr17:42901065 [GRCh38]
Chr17:41053082 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001271888]|not provided [RCV000200195] Chr17:42911017 [GRCh38]
Chr17:41063034 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000667794]|not provided [RCV000200377] Chr17:42911317 [GRCh38]
Chr17:41063334 [GRCh37]
Chr17:17q21.31
pathogenic|uncertain significance
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001085003]|not provided [RCV000727223]|not specified [RCV000196591] Chr17:42911046 [GRCh38]
Chr17:41063063 [GRCh37]
Chr17:17q21.31
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001240860]|not provided [RCV000196826] Chr17:42911262 [GRCh38]
Chr17:41063279 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000587142]|not provided [RCV000197003] Chr17:42909418 [GRCh38]
Chr17:41061435 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.882C>A (p.Phe294Leu) single nucleotide variant not provided [RCV000197281] Chr17:42911234 [GRCh38]
Chr17:41063251 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001079940]|not provided [RCV000675764]|not specified [RCV000198452] Chr17:42907614 [GRCh38]
Chr17:41059631 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.*3G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000278532]|not provided [RCV000675765]|not specified [RCV000125158] Chr17:42911429 [GRCh38]
Chr17:41063446 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000665692]|not provided [RCV000199189] Chr17:42911295 [GRCh38]
Chr17:41063312 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_000151.4(G6PC1):c.230+1G>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000673964] Chr17:42901107 [GRCh38]
Chr17:41053124 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000670061] Chr17:42900923 [GRCh38]
Chr17:41052940 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000670222] Chr17:42911419 [GRCh38]
Chr17:41063436 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.340+10C>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001082635]|Glycogen storage disease, type I [RCV001274703]|not provided [RCV000725686]|not specified [RCV000371551] Chr17:42904050 [GRCh38]
Chr17:41056067 [GRCh37]
Chr17:17q21.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000668900] Chr17:42911059 [GRCh38]
Chr17:41063076 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.340+42C>T single nucleotide variant not specified [RCV000243775] Chr17:42904082 [GRCh38]
Chr17:41056099 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.*23T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000338206]|not provided [RCV000675766]|not specified [RCV000249250] Chr17:42911449 [GRCh38]
Chr17:41063466 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*2088A>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000301187] Chr17:42913514 [GRCh38]
Chr17:41065531 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*2847T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000296117] Chr17:42914273 [GRCh38]
Chr17:41066290 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2095T>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000356049] Chr17:42913521 [GRCh38]
Chr17:41065538 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000270253]|Inborn genetic diseases [RCV001267229] Chr17:42904026 [GRCh38]
Chr17:41056043 [GRCh37]
Chr17:17q21.31
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000151.4(G6PC1):c.*1545_*1552TTTTAGAA[1] microsatellite Glycogen storage disease, type I [RCV000313053] Chr17:42912971..42912978 [GRCh38]
Chr17:41064988..41064995 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*745G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000369863] Chr17:42912171 [GRCh38]
Chr17:41064188 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_000151.4(G6PC1):c.*1970A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000314197] Chr17:42913396 [GRCh38]
Chr17:41065413 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.562+10G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001080035]|not provided [RCV000726276]|not specified [RCV000379778] Chr17:42909428 [GRCh38]
Chr17:41061445 [GRCh37]
Chr17:17q21.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000151.4(G6PC1):c.*1454C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000348136] Chr17:42912880 [GRCh38]
Chr17:41064897 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1552A>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000349214] Chr17:42912978 [GRCh38]
Chr17:41064995 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000372616] Chr17:42911345 [GRCh38]
Chr17:41063362 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.81G>C (p.Gln27His) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000397508] Chr17:42900957 [GRCh38]
Chr17:41052974 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000277431] Chr17:42911274 [GRCh38]
Chr17:41063291 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*703G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000368534] Chr17:42912129 [GRCh38]
Chr17:41064146 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1210C>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000322483] Chr17:42912636 [GRCh38]
Chr17:41064653 [GRCh37]
Chr17:17q21.31
benign|uncertain significance
NM_000151.4(G6PC1):c.*714A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000274146] Chr17:42912140 [GRCh38]
Chr17:41064157 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*24A>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000374127] Chr17:42911450 [GRCh38]
Chr17:41063467 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1012C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000375761] Chr17:42912438 [GRCh38]
Chr17:41064455 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.*1227dup duplication Glycogen storage disease, type I [RCV000377062] Chr17:42912638..42912639 [GRCh38]
Chr17:41064655..41064656 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*1294C>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000287341] Chr17:42912720 [GRCh38]
Chr17:41064737 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*556C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000403630] Chr17:42911982 [GRCh38]
Chr17:41063999 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1324C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000288530] Chr17:42912750 [GRCh38]
Chr17:41064767 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000385837] Chr17:42910990 [GRCh38]
Chr17:41063007 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2611C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000290188] Chr17:42914037 [GRCh38]
Chr17:41066054 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1652C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000406050] Chr17:42913078 [GRCh38]
Chr17:41065095 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1513C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000391852] Chr17:42912939 [GRCh38]
Chr17:41064956 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1986T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000259990] Chr17:42913412 [GRCh38]
Chr17:41065429 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2532G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000384544] Chr17:42913958 [GRCh38]
Chr17:41065975 [GRCh37]
Chr17:17q21.31
benign|uncertain significance
NM_000151.4(G6PC1):c.*877T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000261348] Chr17:42912303 [GRCh38]
Chr17:41064320 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.*1039G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000262537] Chr17:42912465 [GRCh38]
Chr17:41064482 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1304G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000342357] Chr17:42912730 [GRCh38]
Chr17:41064747 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.*492A>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000344308] Chr17:42911918 [GRCh38]
Chr17:41063935 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2501C>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000267068] Chr17:42913927 [GRCh38]
Chr17:41065944 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*727T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000315199] Chr17:42912153 [GRCh38]
Chr17:41064170 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.*986A>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000316620] Chr17:42912412 [GRCh38]
Chr17:41064429 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2311C>T single nucleotide variant Glycogen storage disease, type I [RCV000361681] Chr17:42913737 [GRCh38]
Chr17:41065754 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*120G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000339231] Chr17:42911546 [GRCh38]
Chr17:41063563 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2133C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000266000] Chr17:42913559 [GRCh38]
Chr17:41065576 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1981C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000354816] Chr17:42913407 [GRCh38]
Chr17:41065424 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001278494] Chr17:42907550 [GRCh38]
Chr17:41059567 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000984266]|not provided [RCV000595590] Chr17:42903958 [GRCh38]
Chr17:41055975 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.*2687del deletion Glycogen storage disease, type I [RCV000331135] Chr17:42914100 [GRCh38]
Chr17:41066117 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1313A>G single nucleotide variant Glycogen storage disease, type I [RCV000381845] Chr17:42912739 [GRCh38]
Chr17:41064756 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000331204] Chr17:42910929 [GRCh38]
Chr17:41062946 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*211T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000404633] Chr17:42911637 [GRCh38]
Chr17:41063654 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*119C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000284334] Chr17:42911545 [GRCh38]
Chr17:41063562 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2800G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000385745] Chr17:42914226 [GRCh38]
Chr17:41066243 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2981G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000351082] Chr17:42914407 [GRCh38]
Chr17:41066424 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*286A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000308188] Chr17:42911712 [GRCh38]
Chr17:41063729 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2134G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000321063] Chr17:42913560 [GRCh38]
Chr17:41065577 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*607G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000309407] Chr17:42912033 [GRCh38]
Chr17:41064050 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2519G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000325260] Chr17:42913945 [GRCh38]
Chr17:41065962 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000409261] Chr17:42901026..42901027 [GRCh38]
Chr17:41053043..41053044 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000415061] Chr17:42909407 [GRCh38]
Chr17:41061424 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000409898] Chr17:42911330..42911332 [GRCh38]
Chr17:41063347..41063349 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000410536] Chr17:42900955 [GRCh38]
Chr17:41052972 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000556983] Chr17:42911345 [GRCh38]
Chr17:41063362 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.798del (p.Thr267fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000411015] Chr17:42911150 [GRCh38]
Chr17:41063167 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.136del (p.Leu46fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000411233] Chr17:42901011 [GRCh38]
Chr17:41053028 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.858del (p.Lys287fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000411293] Chr17:42911207 [GRCh38]
Chr17:41063224 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000411603] Chr17:42901037 [GRCh38]
Chr17:41053054 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) indel Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000536905] Chr17:42911370..42911379 [GRCh38]
Chr17:41063387..41063396 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.499dup (p.Cys167fs) duplication Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000412063] Chr17:42909354..42909355 [GRCh38]
Chr17:41061371..41061372 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000910868]|not specified [RCV000435053] Chr17:42911354 [GRCh38]
Chr17:41063371 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=) single nucleotide variant not specified [RCV000438691] Chr17:42911420 [GRCh38]
Chr17:41063437 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000966422]|not specified [RCV000428742] Chr17:42901008 [GRCh38]
Chr17:41053025 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_000151.4(G6PC1):c.954C>T (p.Val318=) single nucleotide variant not specified [RCV000426234] Chr17:42911306 [GRCh38]
Chr17:41063323 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.231-18T>C single nucleotide variant not specified [RCV000430619] Chr17:42903913 [GRCh38]
Chr17:41055930 [GRCh37]
Chr17:17q21.31
likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000886997]|not specified [RCV000604888] Chr17:42911261 [GRCh38]
Chr17:41063278 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) single nucleotide variant not specified [RCV000602539] Chr17:42911117 [GRCh38]
Chr17:41063134 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000980689]|not specified [RCV000607288] Chr17:42910922 [GRCh38]
Chr17:41062939 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000654361] Chr17:42903955 [GRCh38]
Chr17:41055972 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000654363] Chr17:42910986 [GRCh38]
Chr17:41063003 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000624988] Chr17:42909364 [GRCh38]
Chr17:41061381 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.231-4A>G single nucleotide variant not specified [RCV000609093] Chr17:42903927 [GRCh38]
Chr17:41055944 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.340+20C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000665446]|not specified [RCV000604579] Chr17:42904060 [GRCh38]
Chr17:41056077 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.231-1G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000664578] Chr17:42903930 [GRCh38]
Chr17:41055947 [GRCh37]
Chr17:17q21.31
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000672716] Chr17:42909353 [GRCh38]
Chr17:41061370 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000673250] Chr17:42909414 [GRCh38]
Chr17:41061431 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000673256] Chr17:42909323 [GRCh38]
Chr17:41061340 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000668255] Chr17:42907523 [GRCh38]
Chr17:41059540 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000669345] Chr17:42909416 [GRCh38]
Chr17:41061433 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000671160] Chr17:42900890 [GRCh38]
Chr17:41052907 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000670714]|not provided [RCV000982486] Chr17:42910998 [GRCh38]
Chr17:41063015 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_000151.4(G6PC1):c.361A>G (p.Met121Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000673835] Chr17:42907543 [GRCh38]
Chr17:41059560 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.781_783CTC[1] (p.Leu262del) microsatellite Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000673976] Chr17:42911132..42911134 [GRCh38]
Chr17:41063149..41063151 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000674235] Chr17:42910958 [GRCh38]
Chr17:41062975 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000674563] Chr17:42909303 [GRCh38]
Chr17:41061320 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000670966] Chr17:42911144 [GRCh38]
Chr17:41063161 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs) duplication Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000665662] Chr17:42900926..42900927 [GRCh38]
Chr17:41052943..41052944 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000666482] Chr17:42911083 [GRCh38]
Chr17:41063100 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.447-1G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000668544] Chr17:42909302 [GRCh38]
Chr17:41061319 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000665404] Chr17:42911026 [GRCh38]
Chr17:41063043 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000668679] Chr17:42907563 [GRCh38]
Chr17:41059580 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000674590] Chr17:42909372 [GRCh38]
Chr17:41061389 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs) insertion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000672972] Chr17:42911304..42911305 [GRCh38]
Chr17:41063321..41063322 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.388_400del (p.Met130fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000678678] Chr17:42907570..42907582 [GRCh38]
Chr17:41059587..41059599 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000689235] Chr17:42911316 [GRCh38]
Chr17:41063333 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_000151.4(G6PC1):c.489G>A (p.Gln163=) single nucleotide variant not provided [RCV000761957] Chr17:42909345 [GRCh38]
Chr17:41061362 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001044200] Chr17:42907566 [GRCh38]
Chr17:41059583 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.888C>G (p.Leu296=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001274704]|not provided [RCV000899052] Chr17:42911240 [GRCh38]
Chr17:41063257 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000899486] Chr17:42911300 [GRCh38]
Chr17:41063317 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000901044] Chr17:42911408 [GRCh38]
Chr17:41063425 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.447-6T>C single nucleotide variant not provided [RCV000928803] Chr17:42909297 [GRCh38]
Chr17:41061314 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000898064] Chr17:42911344 [GRCh38]
Chr17:41063361 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000880926] Chr17:42910967 [GRCh38]
Chr17:41062984 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.563-5C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000979575] Chr17:42910910 [GRCh38]
Chr17:41062927 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000896202] Chr17:42911138 [GRCh38]
Chr17:41063155 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000978800] Chr17:42900894 [GRCh38]
Chr17:41052911 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000897106] Chr17:42911294 [GRCh38]
Chr17:41063311 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.753C>A (p.Val251=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000983279] Chr17:42911105 [GRCh38]
Chr17:41063122 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000793922] Chr17:42909374 [GRCh38]
Chr17:41061391 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000989856] Chr17:42909382 [GRCh38]
Chr17:41061399 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.563-3C>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000989857] Chr17:42910912 [GRCh38]
Chr17:41062929 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000915503] Chr17:42911075 [GRCh38]
Chr17:41063092 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.446+2T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000791731] Chr17:42907630 [GRCh38]
Chr17:41059647 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000807151] Chr17:42904023 [GRCh38]
Chr17:41056040 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000824106] Chr17:42901069 [GRCh38]
Chr17:41053086 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001060511]|not provided [RCV001268621] Chr17:42901104 [GRCh38]
Chr17:41053121 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000976384] Chr17:42911312 [GRCh38]
Chr17:41063329 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.446+1G>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000813189] Chr17:42907629 [GRCh38]
Chr17:41059646 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.262del (p.Val88fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000797174]|Inborn genetic diseases [RCV001267228] Chr17:42903960 [GRCh38]
Chr17:41055977 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.511del (p.Ile171fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000989855] Chr17:42909366 [GRCh38]
Chr17:41061383 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.356A>T (p.His119Leu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001070041] Chr17:42907538 [GRCh38]
Chr17:41059555 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001223619] Chr17:42911058 [GRCh38]
Chr17:41063075 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter) indel Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001239773] Chr17:42907570..42907571 [GRCh38]
Chr17:41059587..41059588 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.770C>A (p.Pro257His) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000989858] Chr17:42911122 [GRCh38]
Chr17:41063139 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.757del (p.Ile253fs) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001199904] Chr17:42911109 [GRCh38]
Chr17:41063126 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.*250G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124562] Chr17:42911676 [GRCh38]
Chr17:41063693 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*251C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124563] Chr17:42911677 [GRCh38]
Chr17:41063694 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001127588] Chr17:42911417 [GRCh38]
Chr17:41063434 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1311G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001127668] Chr17:42912737 [GRCh38]
Chr17:41064754 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1400G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001127669] Chr17:42912826 [GRCh38]
Chr17:41064843 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2975A>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001121975] Chr17:42914401 [GRCh38]
Chr17:41066418 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.*2418G>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125657] Chr17:42913844 [GRCh38]
Chr17:41065861 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV000914849] Chr17:42911231 [GRCh38]
Chr17:41063248 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) single nucleotide variant not provided [RCV000932950] Chr17:42903994 [GRCh38]
Chr17:41056011 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.*2723G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001127759] Chr17:42914149 [GRCh38]
Chr17:41066166 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.*17G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123481] Chr17:42911443 [GRCh38]
Chr17:41063460 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*103C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123482] Chr17:42911529 [GRCh38]
Chr17:41063546 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124472] Chr17:42901009 [GRCh38]
Chr17:41053026 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.231-12G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124474] Chr17:42903919 [GRCh38]
Chr17:41055936 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2474C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125658] Chr17:42913900 [GRCh38]
Chr17:41065917 [GRCh37]
Chr17:17q21.31
benign
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001225198] Chr17:42911173 [GRCh38]
Chr17:41063190 [GRCh37]
Chr17:17q21.31
likely pathogenic
NC_000017.11:g.(?_42900800)_(42904229_?)del deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001032296] Chr17:41052817..41056246 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001049851] Chr17:42910978 [GRCh38]
Chr17:41062995 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_000151.4(G6PC1):c.*1466T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123573] Chr17:42912892 [GRCh38]
Chr17:41064909 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1527C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123575] Chr17:42912953 [GRCh38]
Chr17:41064970 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1550G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123576] Chr17:42912976 [GRCh38]
Chr17:41064993 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*887T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125577] Chr17:42912313 [GRCh38]
Chr17:41064330 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2184T>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125656] Chr17:42913610 [GRCh38]
Chr17:41065627 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124471] Chr17:42900958 [GRCh38]
Chr17:41052975 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001194214] Chr17:42909365 [GRCh38]
Chr17:41061382 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125478] Chr17:42910932 [GRCh38]
Chr17:41062949 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125479] Chr17:42910986 [GRCh38]
Chr17:41063003 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001004606] Chr17:42903941 [GRCh38]
Chr17:41055958 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001193577] Chr17:42909335 [GRCh38]
Chr17:41061352 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001068925] Chr17:42907523 [GRCh38]
Chr17:41059540 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.-77G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123371] Chr17:42900800 [GRCh38]
Chr17:41052817 [GRCh37]
Chr17:17q21.31
likely benign
NM_000151.4(G6PC1):c.*1458C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123572] Chr17:42912884 [GRCh38]
Chr17:41064901 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1640G>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123577] Chr17:42913066 [GRCh38]
Chr17:41065083 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001089502] Chr17:42911403 [GRCh38]
Chr17:41063420 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001202130] Chr17:42907550 [GRCh38]
Chr17:41059567 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001004605] Chr17:42901085 [GRCh38]
Chr17:41053102 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer) deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001250218] Chr17:42900936 [GRCh38]
Chr17:41052953 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001235195] Chr17:42911016 [GRCh38]
Chr17:41063033 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001125477] Chr17:42909409 [GRCh38]
Chr17:41061426 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001219477] Chr17:42904010 [GRCh38]
Chr17:41056027 [GRCh37]
Chr17:17q21.31
pathogenic
NM_000151.4(G6PC1):c.*2980A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001121976] Chr17:42914406 [GRCh38]
Chr17:41066423 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1514G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001123574] Chr17:42912940 [GRCh38]
Chr17:41064957 [GRCh37]
Chr17:17q21.31
uncertain significance
NC_000017.11:g.42910914_42911426del deletion Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001250217] Chr17:42910913..42911425 [GRCh38]
Chr17:41062930..41063442 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.*2857C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001127760] Chr17:42914283 [GRCh38]
Chr17:41066300 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.230+11T>C single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124473] Chr17:42901117 [GRCh38]
Chr17:41053134 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*680G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124564] Chr17:42912106 [GRCh38]
Chr17:41064123 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1671C>T single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124650] Chr17:42913097 [GRCh38]
Chr17:41065114 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*1901A>G single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124651] Chr17:42913327 [GRCh38]
Chr17:41065344 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.*2081T>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001124652] Chr17:42913507 [GRCh38]
Chr17:41065524 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001215828] Chr17:42911359 [GRCh38]
Chr17:41063376 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001267763] Chr17:42911152 [GRCh38]
Chr17:41063169 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001332225] Chr17:42900935 [GRCh38]
Chr17:41052952 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001278495] Chr17:42910995 [GRCh38]
Chr17:41063012 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser) single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001344123] Chr17:42901069 [GRCh38]
Chr17:41053086 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_000151.4(G6PC1):c.340+7G>A single nucleotide variant Glycogen storage disease due to glucose-6-phosphatase deficiency type IA [RCV001278493] Chr17:42904047 [GRCh38]
Chr17:41056064 [GRCh37]
Chr17:17q21.31
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4056 AgrOrtholog
COSMIC G6PC1 COSMIC
Ensembl Genes ENSG00000131482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465958 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000466202 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253801 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585489 UniProtKB/TrEMBL
  ENST00000592383 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000131482 GTEx
HGNC ID HGNC:4056 ENTREZGENE
Human Proteome Map G6PC1 Human Proteome Map
InterPro Glucose-6-phosphatase UniProtKB/Swiss-Prot
  P_Acid_Pase_2/haloperoxi_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_Acid_Pase_2/haloperoxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2538 UniProtKB/Swiss-Prot
NCBI Gene 2538 ENTREZGENE
OMIM 232200 OMIM
  613742 OMIM
Pfam PAP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28468 PharmGKB
PIRSF Glucose-6-phosphatase UniProtKB/Swiss-Prot
SMART acidPPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G6PC_HUMAN UniProtKB/Swiss-Prot
  K7ELS6_HUMAN UniProtKB/TrEMBL
  P35575 ENTREZGENE
UniProt Secondary A1L4C0 UniProtKB/Swiss-Prot
  B4E1C3 UniProtKB/Swiss-Prot
  K7EL82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-11-09 G6PC1  glucose-6-phosphatase catalytic subunit 1  G6PC  glucose-6-phosphatase catalytic subunit  Symbol and/or name change 19259463 PROVISIONAL
2016-03-21 G6PC  glucose-6-phosphatase catalytic subunit    glucose-6-phosphatase, catalytic subunit  Symbol and/or name change 5135510 APPROVED