GFPT1 (glutamine--fructose-6-phosphate transaminase 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: GFPT1 (glutamine--fructose-6-phosphate transaminase 1) Homo sapiens
Analyze
Symbol: GFPT1
Name: glutamine--fructose-6-phosphate transaminase 1
RGD ID: 1353383
HGNC Page HGNC
Description: Predicted to have glutamine-fructose-6-phosphate transaminase (isomerizing) activity. Predicted to be involved in several processes, including UDP-N-acetylglucosamine metabolic process; circadian regulation of gene expression; and fructose 6-phosphate metabolic process. Localizes to extracellular exosome. Implicated in congenital myasthenic syndrome 12 and obesity. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMS12; CMSTA1; D-fructose-6-phosphate amidotransferase 1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1L; glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1; glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1; glutamine-fructose-6-phosphate transaminase 1; glutamine: fructose-6-phosphate amidotransferase-1; glutamine:fructose 6 phosphate amidotransferase 1; glutamine:fructose-6-phosphate amidotransferase 1; hexosephosphate aminotransferase 1; MSLG
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 Ensembl269,319,780 - 69,387,250 (-)EnsemblGRCh38hg38GRCh38
GRCh38269,319,780 - 69,387,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37269,546,912 - 69,614,359 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36269,405,911 - 69,467,829 (-)NCBINCBI36hg18NCBI36
Build 34269,464,057 - 69,525,976NCBI
Celera269,396,783 - 69,495,538 (-)NCBI
Cytogenetic Map2p13.3NCBI
HuRef269,283,030 - 69,350,894 (-)NCBIHuRef
CHM1_1269,476,230 - 69,543,772 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
graphite  (ISO)
hydroquinone  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
theophylline  (EXP)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of the immune system  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Decreased fetal movement  (IAGP)
Decreased muscle mass  (IAGP)
Decreased size of nerve terminals  (IAGP)
Dental malocclusion  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty walking  (IAGP)
Distal muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Easy fatigability  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness  (IAGP)
Favorable response of weakness to acetylcholine esterase inhibitors  (IAGP)
Feeding difficulties  (IAGP)
Frequent falls  (IAGP)
Generalized hypotonia  (IAGP)
Generalized weakness of limb muscles  (IAGP)
Gowers sign  (IAGP)
High palate  (IAGP)
Increased jitter at single fiber EMG  (IAGP)
Infantile onset  (IAGP)
Joint laxity  (IAGP)
Juvenile onset  (IAGP)
Knee flexion contracture  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long face  (IAGP)
Lumbar hyperlordosis  (IAGP)
Mandibular prognathia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Muscle fiber tubular inclusions  (IAGP)
Muscle spasm  (IAGP)
Myopathy  (IAGP)
Neck muscle weakness  (IAGP)
Nonprogressive  (IAGP)
Ophthalmoparesis  (IAGP)
Pes planus  (IAGP)
Poor head control  (IAGP)
Proximal amyotrophy  (IAGP)
Ptosis  (IAGP)
Ragged-red muscle fibers  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Skeletal muscle atrophy  (IAGP)
Strabismus  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Type 2 muscle fiber atrophy  (IAGP)
Variable expressivity  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
References

Additional References at PubMed
PMID:1460020   PMID:2037571   PMID:7601477   PMID:7607664   PMID:8144040   PMID:8619474   PMID:9110174   PMID:10198162   PMID:10806197   PMID:10997685   PMID:11587069   PMID:11679416  
PMID:12477932   PMID:12802498   PMID:14988277   PMID:15308130   PMID:15489334   PMID:15595739   PMID:15613432   PMID:15878746   PMID:16341674   PMID:16344560   PMID:16964243   PMID:17024311  
PMID:17081983   PMID:17542649   PMID:17941647   PMID:19059404   PMID:19170765   PMID:19322201   PMID:20301347   PMID:20458337   PMID:20562859   PMID:20845477   PMID:21310273   PMID:21873635  
PMID:21975507   PMID:21988832   PMID:22586326   PMID:22863883   PMID:22987706   PMID:23488891   PMID:23569079   PMID:23794683   PMID:24075873   PMID:24778252   PMID:24981860   PMID:25737280  
PMID:25765662   PMID:25921289   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26508657   PMID:26618866   PMID:26638075   PMID:26715276   PMID:26777405   PMID:26887390   PMID:26972000  
PMID:27025967   PMID:27182664   PMID:27342126   PMID:27509259   PMID:27570073   PMID:27684187   PMID:27996048   PMID:28008135   PMID:28186970   PMID:28336748   PMID:28380382   PMID:28514442  
PMID:28515276   PMID:28533407   PMID:28675297   PMID:28712002   PMID:28712289   PMID:28718761   PMID:28883622   PMID:28902428   PMID:29467282   PMID:29507755   PMID:29676528   PMID:29704455  
PMID:29753740   PMID:29905857   PMID:29955894   PMID:30097533   PMID:30305725   PMID:30575818   PMID:30619736   PMID:30635494   PMID:30669930   PMID:30711629   PMID:30737378   PMID:30771196  
PMID:30948266   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31182584   PMID:31343991   PMID:31586073   PMID:31992359   PMID:32019926   PMID:32149084   PMID:32235678   PMID:32239614  
PMID:32416067   PMID:32457219   PMID:32694731  


Genomics

Comparative Map Data
GFPT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl269,319,780 - 69,387,250 (-)EnsemblGRCh38hg38GRCh38
GRCh38269,319,780 - 69,387,227 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37269,546,912 - 69,614,359 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36269,405,911 - 69,467,829 (-)NCBINCBI36hg18NCBI36
Build 34269,464,057 - 69,525,976NCBI
Celera269,396,783 - 69,495,538 (-)NCBI
Cytogenetic Map2p13.3NCBI
HuRef269,283,030 - 69,350,894 (-)NCBIHuRef
CHM1_1269,476,230 - 69,543,772 (-)NCBICHM1_1
Gfpt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39687,019,828 - 87,069,189 (+)NCBIGRCm39mm39
GRCm39 Ensembl687,019,828 - 87,069,179 (+)Ensembl
GRCm38687,042,846 - 87,092,207 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl687,042,846 - 87,092,197 (+)EnsemblGRCm38mm10GRCm38
MGSCv37686,992,840 - 87,042,201 (+)NCBIGRCm37mm9NCBIm37
MGSCv36687,008,484 - 87,054,005 (+)NCBImm8
Celera688,982,225 - 89,031,325 (+)NCBICelera
Cytogenetic Map6D1NCBI
cM Map637.81NCBI
Gfpt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24119,496,691 - 119,546,472 (+)NCBI
Rnor_6.0 Ensembl4118,852,062 - 118,901,591 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04118,852,046 - 118,901,583 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04183,421,338 - 183,470,867 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44121,204,274 - 121,250,160 (+)NCBIRGSC3.4rn4RGSC3.4
Celera4108,466,461 - 108,512,263 (+)NCBICelera
Cytogenetic Map4q34NCBI
Gfpt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542415,692,088 - 15,739,894 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542415,692,088 - 15,739,894 (+)NCBIChiLan1.0ChiLan1.0
GFPT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A70,483,499 - 70,551,141 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A70,488,763 - 70,551,141 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A69,363,229 - 69,430,182 (-)NCBIMhudiblu_PPA_v0panPan3
GFPT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11068,067,817 - 68,125,001 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1068,073,062 - 68,125,007 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1067,960,535 - 68,017,522 (-)NCBI
ROS_Cfam_1.01069,091,496 - 69,148,774 (-)NCBI
UMICH_Zoey_3.11068,772,533 - 68,829,292 (-)NCBI
UNSW_CanFamBas_1.01069,073,628 - 69,129,790 (-)NCBI
UU_Cfam_GSD_1.01069,369,742 - 69,426,801 (-)NCBI
Gfpt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629214,905,980 - 14,973,708 (+)NCBI
SpeTri2.0NW_00493649113,603,256 - 13,665,298 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFPT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl372,983,188 - 73,085,319 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1373,028,750 - 73,086,191 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2376,459,764 - 76,509,989 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap3q21-q27NCBI
GFPT1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11437,740,332 - 37,803,389 (+)NCBI
ChlSab1.1 Ensembl1437,740,358 - 37,802,143 (+)Ensembl
Vero_WHO_p1.0NW_02366604574,190,985 - 74,253,974 (-)NCBI
Gfpt1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247623,943,074 - 4,016,090 (+)NCBI

Position Markers
WI-13967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,552,418 - 69,552,546UniSTSGRCh37
Build 36269,405,922 - 69,406,050RGDNCBI36
Celera269,402,296 - 69,402,424RGD
Cytogenetic Map2p13UniSTS
HuRef269,288,547 - 69,288,675UniSTS
GeneMap99-GB4 RH Map2224.98UniSTS
Whitehead-RH Map2286.2UniSTS
RH99057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371032,834,061 - 32,834,205UniSTSGRCh37
GRCh37269,547,147 - 69,547,291UniSTSGRCh37
Build 36269,400,651 - 69,400,795RGDNCBI36
Celera1032,598,902 - 32,599,046UniSTS
Celera269,397,025 - 69,397,169RGD
Cytogenetic Map10p11.22UniSTS
Cytogenetic Map2p13UniSTS
HuRef1032,553,731 - 32,553,875UniSTS
HuRef269,283,276 - 69,283,420UniSTS
RH94297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,548,771 - 69,548,923UniSTSGRCh37
Build 36269,402,275 - 69,402,427RGDNCBI36
Celera269,398,649 - 69,398,801RGD
Cytogenetic Map2p13UniSTS
HuRef269,284,900 - 69,285,052UniSTS
GeneMap99-GB4 RH Map2217.97UniSTS
G59499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,552,425 - 69,552,546UniSTSGRCh37
Build 36269,405,929 - 69,406,050RGDNCBI36
Celera269,402,303 - 69,402,424RGD
Cytogenetic Map2p13UniSTS
HuRef269,288,554 - 69,288,675UniSTS
SHGC-31513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,553,027 - 69,553,239UniSTSGRCh37
Build 36269,406,531 - 69,406,743RGDNCBI36
Celera269,402,905 - 69,403,117RGD
Cytogenetic Map2p13UniSTS
HuRef269,289,156 - 69,289,368UniSTS
GeneMap99-GB4 RH Map2218.98UniSTS
Whitehead-RH Map2303.4UniSTS
GeneMap99-G3 RH Map22695.0UniSTS
SHGC-57784  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera269,418,231 - 69,418,456RGD
Cytogenetic Map2p13UniSTS
RH17749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,552,735 - 69,552,926UniSTSGRCh37
Build 36269,406,239 - 69,406,430RGDNCBI36
Celera269,402,613 - 69,402,804RGD
Cytogenetic Map2p13UniSTS
HuRef269,288,864 - 69,289,055UniSTS
GeneMap99-GB4 RH Map2219.08UniSTS
RH79097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,627,514 - 69,627,638UniSTSGRCh37
Build 36269,481,018 - 69,481,142RGDNCBI36
Celera269,477,515 - 69,477,639RGD
Cytogenetic Map2p13UniSTS
Cytogenetic Map2p15-p13UniSTS
HuRef269,364,024 - 69,364,148UniSTS
GeneMap99-GB4 RH Map2232.6UniSTS
GFPT1_3984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37269,552,417 - 69,553,254UniSTSGRCh37
Build 36269,405,921 - 69,406,758RGDNCBI36
Celera269,402,295 - 69,403,132RGD
HuRef269,288,546 - 69,289,383UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4572
Count of miRNA genes:1137
Interacting mature miRNAs:1397
Transcripts:ENST00000357308, ENST00000361060, ENST00000493759, ENST00000494201
Prediction methods:Miranda, Rnahybrid
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1875 1568 1491 460 969 305 2723 749 1443 325 1436 1605 167 1196 1605 6 2
Low 564 1382 235 164 942 160 1634 1447 2290 94 24 8 8 1 8 1183
Below cutoff 41 40 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF334737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF445027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW079566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG723175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM744371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB133199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M90516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000357308   ⟹   ENSP00000349860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl269,319,780 - 69,387,227 (-)Ensembl
RefSeq Acc Id: ENST00000361060   ⟹   ENSP00000354347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl269,319,780 - 69,387,248 (-)Ensembl
RefSeq Acc Id: ENST00000494201   ⟹   ENSP00000501359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl269,363,611 - 69,387,250 (-)Ensembl
RefSeq Acc Id: ENST00000674438   ⟹   ENSP00000501469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl269,325,423 - 69,387,130 (-)Ensembl
RefSeq Acc Id: ENST00000674507   ⟹   ENSP00000501332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl269,322,278 - 69,387,188 (-)Ensembl
RefSeq Acc Id: NM_001244710   ⟹   NP_001231639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38269,319,780 - 69,387,227 (-)NCBI
GRCh37269,546,901 - 69,614,386 (-)NCBI
HuRef269,283,030 - 69,350,894 (-)NCBI
CHM1_1269,476,230 - 69,543,772 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002056   ⟹   NP_002047
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38269,319,780 - 69,387,227 (-)NCBI
GRCh37269,546,901 - 69,614,386 (-)NCBI
Build 36269,405,911 - 69,467,829 (-)NCBI Archive
HuRef269,283,030 - 69,350,894 (-)NCBI
CHM1_1269,476,230 - 69,543,772 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003801   ⟹   XP_016859290
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38269,321,518 - 69,383,077 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003802   ⟹   XP_016859291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38269,325,267 - 69,383,069 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002047   ⟸   NM_002056
- Peptide Label: isoform 2
- UniProtKB: Q06210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001231639   ⟸   NM_001244710
- Peptide Label: isoform 1
- UniProtKB: Q06210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859290   ⟸   XM_017003801
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016859291   ⟸   XM_017003802
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000501332   ⟸   ENST00000674507
RefSeq Acc Id: ENSP00000501469   ⟸   ENST00000674438
RefSeq Acc Id: ENSP00000354347   ⟸   ENST00000361060
RefSeq Acc Id: ENSP00000501359   ⟸   ENST00000494201
RefSeq Acc Id: ENSP00000349860   ⟸   ENST00000357308
Promoters
RGD ID:6860558
Promoter ID:EPDNEW_H3444
Type:initiation region
Name:GFPT1_1
Description:glutamine--fructose-6-phosphate transaminase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3445  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38269,387,217 - 69,387,277EPDNEW
RGD ID:6797512
Promoter ID:HG_KWN:33072
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC002SFI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36269,439,991 - 69,440,491 (-)MPROMDB
RGD ID:6797509
Promoter ID:HG_KWN:33075
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000357308,   NM_002056,   OTTHUMT00000327275
Position:
Human AssemblyChrPosition (strand)Source
Build 36269,467,816 - 69,468,742 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002056.4(GFPT1):c.29A>G (p.Tyr10Cys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000552714] Chr2:69374092 [GRCh38]
Chr2:69601224 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.791+6C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000530207] Chr2:69350072 [GRCh38]
Chr2:69577204 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.224dup (p.Gln76fs) duplication Congenital myasthenic syndrome 12 [RCV000022588] Chr2:69363669..69363670 [GRCh38]
Chr2:69590801..69590802 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.719G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000022589]|not provided [RCV001269982] Chr2:69354279 [GRCh38]
Chr2:69581411 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.1042G>T (p.Asp348Tyr) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000022590] Chr2:69345913 [GRCh38]
Chr2:69573045 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.621del (p.Leu207_Leu208insTer) deletion Congenital myasthenic syndrome 12 [RCV000022592] Chr2:69354553 [GRCh38]
Chr2:69581685 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.1871A>T (p.Asp624Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000542143] Chr2:69327044 [GRCh38]
Chr2:69554176 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1124G>C (p.Gly375Ala) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000547059] Chr2:69342177 [GRCh38]
Chr2:69569309 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.987A>T (p.Ile329=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000542983] Chr2:69345968 [GRCh38]
Chr2:69573100 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.1908G>C (p.Lys636Asn) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000547776]|Inborn genetic diseases [RCV001267516] Chr2:69327007 [GRCh38]
Chr2:69554139 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.2001+3A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000527468] Chr2:69326911 [GRCh38]
Chr2:69554043 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.331C>T (p.Arg111Cys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000022587]|not provided [RCV001090973] Chr2:69363563 [GRCh38]
Chr2:69590695 [GRCh37]
Chr2:2p13.3
pathogenic|likely pathogenic
NM_002056.4(GFPT1):c.43A>G (p.Thr15Ala) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000022591] Chr2:69374078 [GRCh38]
Chr2:69601210 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.1(GFPT1):c.350-1G>A single nucleotide variant Malignant melanoma [RCV000060598] Chr2:69359327 [GRCh38]
Chr2:69586459 [GRCh37]
Chr2:69439963 [NCBI36]
Chr2:2p13.3
not provided
NM_001244710.1(GFPT1):c.1105+7A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000324739]|not specified [RCV000117140] Chr2:69345897 [GRCh38]
Chr2:69573029 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000559808]|not specified [RCV000117141] Chr2:69370077 [GRCh38]
Chr2:69597209 [GRCh37]
Chr2:2p13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001244710.1(GFPT1):c.675C>T (p.Leu225=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000556135]|not specified [RCV000117142] Chr2:69354499 [GRCh38]
Chr2:69581631 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_001244710.2(GFPT1):c.*22C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000190590]|not provided [RCV000514285]|not specified [RCV000844698] Chr2:69326167 [GRCh38]
Chr2:69553299 [GRCh37]
Chr2:2p13.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 copy number gain See cases [RCV000136053] Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1 copy number loss See cases [RCV000140691] Chr2:64587095..69876311 [GRCh38]
Chr2:64814229..70103443 [GRCh37]
Chr2:64667733..69956947 [NCBI36]
Chr2:2p14-13.3
likely pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
NM_002056.4(GFPT1):c.229C>G (p.Gln77Glu) single nucleotide variant not provided [RCV000178175] Chr2:69363665 [GRCh38]
Chr2:69590797 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*800G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000260888] Chr2:69325389 [GRCh38]
Chr2:69552521 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.1543+5A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000690850] Chr2:69329679 [GRCh38]
Chr2:69556811 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.816C>T (p.Arg272=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000544971] Chr2:69348310 [GRCh38]
Chr2:69575442 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.*3805del deletion Congenital Myasthenic Syndrome, Recessive [RCV000273645] Chr2:69322384 [GRCh38]
Chr2:69549516 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3134A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000284043] Chr2:69323055 [GRCh38]
Chr2:69550187 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*4826A>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000278890] Chr2:69321363 [GRCh38]
Chr2:69548495 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*603G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000280908] Chr2:69325586 [GRCh38]
Chr2:69552718 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*1053G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000273726] Chr2:69325136 [GRCh38]
Chr2:69552268 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.1270+13del deletion Congenital Myasthenic Syndrome, Recessive [RCV000377913]|not specified [RCV000243846] Chr2:69338432 [GRCh38]
Chr2:69565564 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.7+36T>C single nucleotide variant not provided [RCV000841161]|not specified [RCV000253707] Chr2:69387029 [GRCh38]
Chr2:69614161 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*5004G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000274684] Chr2:69321185 [GRCh38]
Chr2:69548317 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.116-12A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001137009]|not specified [RCV000251854] Chr2:69370120 [GRCh38]
Chr2:69597252 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*3345C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000266317] Chr2:69322844 [GRCh38]
Chr2:69549976 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*5288_*5289TC[9] microsatellite Congenital Myasthenic Syndrome, Recessive [RCV000275805] Chr2:69320885..69320886 [GRCh38]
Chr2:69548017..69548018 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.2002-11del deletion Congenital Myasthenic Syndrome, Recessive [RCV000276530]|not specified [RCV001420846] Chr2:69326244 [GRCh38]
Chr2:69553376 [GRCh37]
Chr2:2p13.3
benign|uncertain significance
NM_002056.4(GFPT1):c.408+7A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001080325]|not provided [RCV000711801]|not specified [RCV000252982] Chr2:69359261 [GRCh38]
Chr2:69586393 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.408+30T>C single nucleotide variant not provided [RCV000841677]|not specified [RCV000252995] Chr2:69359238 [GRCh38]
Chr2:69586370 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*2368C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000272159] Chr2:69323821 [GRCh38]
Chr2:69550953 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.2002-12_2002-11del deletion Congenital Myasthenic Syndrome, Recessive [RCV000298849] Chr2:69326244..69326245 [GRCh38]
Chr2:69553376..69553377 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2510A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000299069] Chr2:69323679 [GRCh38]
Chr2:69550811 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4053T>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000313735] Chr2:69322136 [GRCh38]
Chr2:69549268 [GRCh37]
Chr2:2p13.3
benign|uncertain significance
NM_002056.4(GFPT1):c.*2269A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000333128] Chr2:69323920 [GRCh38]
Chr2:69551052 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*5261G>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000333187] Chr2:69320928 [GRCh38]
Chr2:69548060 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6284G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000374306] Chr2:69319905 [GRCh38]
Chr2:69547037 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4059A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000396983] Chr2:69322130 [GRCh38]
Chr2:69549262 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*2685A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000299803] Chr2:69323504 [GRCh38]
Chr2:69550636 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*870C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000333404] Chr2:69325319 [GRCh38]
Chr2:69552451 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.1947C>T (p.Ser649=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000353509] Chr2:69326968 [GRCh38]
Chr2:69554100 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4944A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000375126] Chr2:69321245 [GRCh38]
Chr2:69548377 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*666T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000375305] Chr2:69325523 [GRCh38]
Chr2:69552655 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*395C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000376041] Chr2:69325794 [GRCh38]
Chr2:69552926 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3285A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000376118] Chr2:69322904 [GRCh38]
Chr2:69550036 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*3576A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000316076] Chr2:69322613 [GRCh38]
Chr2:69549745 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6094C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000335332] Chr2:69320095 [GRCh38]
Chr2:69547227 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*1974_*1975CA[8] microsatellite Congenital Myasthenic Syndrome, Recessive [RCV000336763] Chr2:69324201..69324202 [GRCh38]
Chr2:69551333..69551334 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.*3679G>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000355699] Chr2:69322510 [GRCh38]
Chr2:69549642 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4730G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000379130] Chr2:69321459 [GRCh38]
Chr2:69548591 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*1461T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000302394] Chr2:69324728 [GRCh38]
Chr2:69551860 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5001G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000318156] Chr2:69321188 [GRCh38]
Chr2:69548320 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*2669C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000357113] Chr2:69323520 [GRCh38]
Chr2:69550652 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*3021T>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000403135] Chr2:69323168 [GRCh38]
Chr2:69550300 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6085C>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000403310] Chr2:69320104 [GRCh38]
Chr2:69547236 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.1440C>T (p.Ser480=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000318564] Chr2:69329787 [GRCh38]
Chr2:69556919 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4274A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000404595] Chr2:69321915 [GRCh38]
Chr2:69549047 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*2464C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000321140] Chr2:69323725 [GRCh38]
Chr2:69550857 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*454T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000340138] Chr2:69325735 [GRCh38]
Chr2:69552867 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.223+5C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000874644]|not specified [RCV000518558] Chr2:69369996 [GRCh38]
Chr2:69597128 [GRCh37]
Chr2:2p13.3
benign|likely benign|uncertain significance
NM_002056.4(GFPT1):c.*2509A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000360905] Chr2:69323680 [GRCh38]
Chr2:69550812 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1425C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000361661] Chr2:69324764 [GRCh38]
Chr2:69551896 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3091A>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000384360] Chr2:69323098 [GRCh38]
Chr2:69550230 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*5354G>A single nucleotide variant Congenital Myasthenic Syndrome, Recessive [RCV000306303] Chr2:69320835 [GRCh38]
Chr2:69547967 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*169C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000306604] Chr2:69326020 [GRCh38]
Chr2:69553152 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5325T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000363380] Chr2:69320864 [GRCh38]
Chr2:69547996 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.224-12C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000385253] Chr2:69363682 [GRCh38]
Chr2:69590814 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2223C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000385401] Chr2:69323966 [GRCh38]
Chr2:69551098 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3345C>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000323889] Chr2:69322844 [GRCh38]
Chr2:69549976 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2219C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000293424] Chr2:69323970 [GRCh38]
Chr2:69551102 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*1244G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000308059] Chr2:69324945 [GRCh38]
Chr2:69552077 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*867G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000387927] Chr2:69325322 [GRCh38]
Chr2:69552454 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*2310A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000294511] Chr2:69323879 [GRCh38]
Chr2:69551011 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*4259C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000309254] Chr2:69321930 [GRCh38]
Chr2:69549062 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3065G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000345588] Chr2:69323124 [GRCh38]
Chr2:69550256 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.*3091A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000327454] Chr2:69323098 [GRCh38]
Chr2:69550230 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1085A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000327963] Chr2:69325104 [GRCh38]
Chr2:69552236 [GRCh37]
Chr2:2p13.3
benign|uncertain significance
NM_002056.4(GFPT1):c.*4229A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000347760] Chr2:69321960 [GRCh38]
Chr2:69549092 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2364C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000329424] Chr2:69323825 [GRCh38]
Chr2:69550957 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*2916A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000349007] Chr2:69323273 [GRCh38]
Chr2:69550405 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_002056.4(GFPT1):c.*1401G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000393173] Chr2:69324788 [GRCh38]
Chr2:69551920 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5673C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000393328] Chr2:69320516 [GRCh38]
Chr2:69547648 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*52C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000311732] Chr2:69326137 [GRCh38]
Chr2:69553269 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6366T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000350102] Chr2:69319823 [GRCh38]
Chr2:69546955 [GRCh37]
Chr2:2p13.3
benign|uncertain significance
NM_002056.4(GFPT1):c.*3987_*3989del deletion Congenital Myasthenic Syndrome, Recessive [RCV000370768] Chr2:69322200..69322202 [GRCh38]
Chr2:69549332..69549334 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.2002-10del deletion Congenital Myasthenic Syndrome, Recessive [RCV000371113] Chr2:69326243 [GRCh38]
Chr2:69553375 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3781G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000312640] Chr2:69322408 [GRCh38]
Chr2:69549540 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.*2510del deletion Congenital Myasthenic Syndrome, Recessive [RCV000395185] Chr2:69323679 [GRCh38]
Chr2:69550811 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6126A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000282229] Chr2:69320063 [GRCh38]
Chr2:69547195 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1741C>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000282491] Chr2:69324448 [GRCh38]
Chr2:69551580 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1090G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000272857] Chr2:69325099 [GRCh38]
Chr2:69552231 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5401dup duplication Congenital Myasthenic Syndrome, Recessive [RCV000273239] Chr2:69320787..69320788 [GRCh38]
Chr2:69547919..69547920 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3579T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000263186] Chr2:69322610 [GRCh38]
Chr2:69549742 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1149+12T>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000264939] Chr2:69342140 [GRCh38]
Chr2:69569272 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2473C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000268366] Chr2:69323716 [GRCh38]
Chr2:69550848 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.-125C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000314470] Chr2:69387196 [GRCh38]
Chr2:69614328 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.329A>G (p.Gln110Arg) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000344683] Chr2:69363565 [GRCh38]
Chr2:69590697 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1168C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000362708] Chr2:69325021 [GRCh38]
Chr2:69552153 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2325G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000381731] Chr2:69323864 [GRCh38]
Chr2:69550996 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1255T>A (p.Phe419Ile) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000549698] Chr2:69338460 [GRCh38]
Chr2:69565592 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5514G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000303844] Chr2:69320675 [GRCh38]
Chr2:69547807 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*689A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000316165] Chr2:69325500 [GRCh38]
Chr2:69552632 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*6016C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000305019] Chr2:69320173 [GRCh38]
Chr2:69547305 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*112C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000347400] Chr2:69326077 [GRCh38]
Chr2:69553209 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5432G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000365453] Chr2:69320757 [GRCh38]
Chr2:69547889 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1540A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000402841] Chr2:69324649 [GRCh38]
Chr2:69551781 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5195_*5199delinsTGTCTTTTTTATA indel Congenital Myasthenic Syndrome, Recessive [RCV000385482] Chr2:69320990..69320994 [GRCh38]
Chr2:69548122..69548126 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*186G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000404599] Chr2:69326003 [GRCh38]
Chr2:69553135 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1869A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000404744] Chr2:69324320 [GRCh38]
Chr2:69551452 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2720C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000404995] Chr2:69323469 [GRCh38]
Chr2:69550601 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.-143G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000350649] Chr2:69387214 [GRCh38]
Chr2:69614346 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1083A>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000368385] Chr2:69325106 [GRCh38]
Chr2:69552238 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.-153G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000405512] Chr2:69387224 [GRCh38]
Chr2:69614356 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.-34C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000405804] Chr2:69387105 [GRCh38]
Chr2:69614237 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4761G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000336241] Chr2:69321428 [GRCh38]
Chr2:69548560 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3019G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000296365] Chr2:69323170 [GRCh38]
Chr2:69550302 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*1639A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000337510] Chr2:69324550 [GRCh38]
Chr2:69551682 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*383T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000286333] Chr2:69325806 [GRCh38]
Chr2:69552938 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4650A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000287015] Chr2:69321539 [GRCh38]
Chr2:69548671 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3385G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000372652] Chr2:69322804 [GRCh38]
Chr2:69549936 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*3090G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000287732] Chr2:69323099 [GRCh38]
Chr2:69550231 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*4520G>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000339586] Chr2:69321669 [GRCh38]
Chr2:69548801 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*196G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000341348] Chr2:69325993 [GRCh38]
Chr2:69553125 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*2420C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000359754] Chr2:69323769 [GRCh38]
Chr2:69550901 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*5901del deletion Congenital Myasthenic Syndrome, Recessive [RCV000343544] Chr2:69320288 [GRCh38]
Chr2:69547420 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.*86C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000397596] Chr2:69326103 [GRCh38]
Chr2:69553235 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5820C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138732] Chr2:69320369 [GRCh38]
Chr2:69547501 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*4375A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138845] Chr2:69321814 [GRCh38]
Chr2:69548946 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*6102T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138315] Chr2:69320087 [GRCh38]
Chr2:69547219 [GRCh37]
Chr2:2p13.3
uncertain significance
GRCh37/hg19 2p14-13.3(chr2:67491378-69679404) copy number loss not provided [RCV000767553] Chr2:67491378..69679404 [GRCh37]
Chr2:2p14-13.3
pathogenic
NM_002056.4(GFPT1):c.981G>A (p.Lys327=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000532518] Chr2:69345974 [GRCh38]
Chr2:69573106 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.*2622G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138949] Chr2:69323567 [GRCh38]
Chr2:69550699 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*6039G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138729] Chr2:69320150 [GRCh38]
Chr2:69547282 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5884A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138731] Chr2:69320305 [GRCh38]
Chr2:69547437 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.956-10A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000558773] Chr2:69346009 [GRCh38]
Chr2:69573141 [GRCh37]
Chr2:2p13.3
likely benign|conflicting interpretations of pathogenicity
NM_002056.4(GFPT1):c.1480G>A (p.Asp494Asn) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000533856] Chr2:69329747 [GRCh38]
Chr2:69556879 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.41G>A (p.Arg14Gln) single nucleotide variant not provided [RCV000420941] Chr2:69374080 [GRCh38]
Chr2:69601212 [GRCh37]
Chr2:2p13.3
likely pathogenic
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 copy number gain See cases [RCV000448688] Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2
pathogenic
NM_002056.4(GFPT1):c.1825G>A (p.Val609Met) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001367890]|not provided [RCV000481544] Chr2:69328285 [GRCh38]
Chr2:69555417 [GRCh37]
Chr2:2p13.3
likely pathogenic|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002056.4(GFPT1):c.1575C>T (p.Asp525=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001412617]|not specified [RCV000503912] Chr2:69329393 [GRCh38]
Chr2:69556525 [GRCh37]
Chr2:2p13.3
likely benign|uncertain significance
NM_001244710.1(GFPT1):c.549T>C (p.Gly183=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000650363]|not specified [RCV000502248] Chr2:69356552 [GRCh38]
Chr2:69583684 [GRCh37]
Chr2:2p13.3
benign|likely benign
NM_002056.4(GFPT1):c.1828G>A (p.Val610Ile) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000527169]|not specified [RCV000502430] Chr2:69328282 [GRCh38]
Chr2:69555414 [GRCh37]
Chr2:2p13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002056.4(GFPT1):c.634C>T (p.Arg212Trp) single nucleotide variant not specified [RCV000500204] Chr2:69354540 [GRCh38]
Chr2:69581672 [GRCh37]
Chr2:2p13.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002056.4(GFPT1):c.224-10T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000542203] Chr2:69363680 [GRCh38]
Chr2:69590812 [GRCh37]
Chr2:2p13.3
benign|conflicting interpretations of pathogenicity
NM_002056.4(GFPT1):c.1507C>T (p.Arg503Cys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000548624] Chr2:69329720 [GRCh38]
Chr2:69556852 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.606-3C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000541443] Chr2:69354571 [GRCh38]
Chr2:69581703 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1680A>G (p.Lys560=) single nucleotide variant not specified [RCV000612767] Chr2:69328430 [GRCh38]
Chr2:69555562 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.875A>T (p.His292Leu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000650362] Chr2:69348251 [GRCh38]
Chr2:69575383 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.1(GFPT1):c.686-2A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV000650361]|Congenital myasthenic syndrome [RCV000788080] Chr2:69354314 [GRCh38]
Chr2:69581446 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.209A>G (p.Asp70Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000650360] Chr2:69370015 [GRCh38]
Chr2:69597147 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1051+1G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000650359] Chr2:69345903 [GRCh38]
Chr2:69573035 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_002056.4(GFPT1):c.1129A>G (p.Ser377Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000557475] Chr2:69342172 [GRCh38]
Chr2:69569304 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1133A>T (p.Tyr378Phe) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000535788] Chr2:69342168 [GRCh38]
Chr2:69569300 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.685+15A>G single nucleotide variant not specified [RCV000600495] Chr2:69354474 [GRCh38]
Chr2:69581606 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.738_739del (p.Gly247fs) microsatellite not provided [RCV000512786] Chr2:69354259..69354260 [GRCh38]
Chr2:69581391..69581392 [GRCh37]
Chr2:2p13.3
pathogenic|likely pathogenic
Single allele duplication not provided [RCV000677942] Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_002056.4(GFPT1):c.1429G>T (p.Ala477Ser) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000702024] Chr2:69329798 [GRCh38]
Chr2:69556930 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1873A>G (p.Thr625Ala) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000692718] Chr2:69327042 [GRCh38]
Chr2:69554174 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.134_154dup (p.Gly45_Glu51dup) duplication Congenital myasthenic syndrome 12 [RCV000693189] Chr2:69370069..69370070 [GRCh38]
Chr2:69597201..69597202 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.197_201del (p.Val66fs) deletion Congenital myasthenic syndrome 12 [RCV000707512] Chr2:69370023..69370027 [GRCh38]
Chr2:69597155..69597159 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.928C>T (p.Gln310Ter) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000691983] Chr2:69348198 [GRCh38]
Chr2:69575330 [GRCh37]
Chr2:2p13.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001244710.2(GFPT1):c.845+7T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV000946083] Chr2:69350071 [GRCh38]
Chr2:69577203 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.409-10C>T single nucleotide variant not provided [RCV000946330] Chr2:69358473 [GRCh38]
Chr2:69585605 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.409-8A>T single nucleotide variant not provided [RCV000946617] Chr2:69358471 [GRCh38]
Chr2:69585603 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1893+7C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV000877185] Chr2:69328264 [GRCh38]
Chr2:69555396 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001039537] Chr2:69327014 [GRCh38]
Chr2:69554146 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.408+5G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000786068] Chr2:69359263 [GRCh38]
Chr2:69586395 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_002056.4(GFPT1):c.41G>T (p.Arg14Leu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000778063] Chr2:69374080 [GRCh38]
Chr2:69601212 [GRCh37]
Chr2:2p13.3
pathogenic
NM_002056.4(GFPT1):c.452C>A (p.Thr151Lys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000778064] Chr2:69358420 [GRCh38]
Chr2:69585552 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.2079C>T (p.Ala693=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001418887]|not provided [RCV000920634] Chr2:69326210 [GRCh38]
Chr2:69553342 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.465C>T (p.Leu155=) single nucleotide variant not provided [RCV000908410] Chr2:69358407 [GRCh38]
Chr2:69585539 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.126T>C (p.Phe42=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000981584] Chr2:69370098 [GRCh38]
Chr2:69597230 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.768C>T (p.Leu256=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000915064] Chr2:69350155 [GRCh38]
Chr2:69577287 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1324+10_1324+15del deletion Congenital myasthenic syndrome 12 [RCV000875979] Chr2:69338430..69338435 [GRCh38]
Chr2:69565562..69565567 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.1671+285T>G single nucleotide variant not provided [RCV000832742] Chr2:69329012 [GRCh38]
Chr2:69556144 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.160G>T (p.Ala54Ser) single nucleotide variant not provided [RCV000997155] Chr2:69370064 [GRCh38]
Chr2:69597196 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.118G>T (p.Val40Leu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000812134] Chr2:69370106 [GRCh38]
Chr2:69597238 [GRCh37]
Chr2:2p13.3
uncertain significance
NC_000002.12:g.69387029A>G single nucleotide variant not provided [RCV000841161] Chr2:69614161 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.7+239T>C single nucleotide variant not provided [RCV000841163] Chr2:69386826 [GRCh38]
Chr2:69613958 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.408+107T>G single nucleotide variant not provided [RCV000841164] Chr2:69359161 [GRCh38]
Chr2:69586293 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.544-207T>C single nucleotide variant not provided [RCV000841165] Chr2:69356764 [GRCh38]
Chr2:69583896 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.605+206C>T single nucleotide variant not provided [RCV000841166] Chr2:69356290 [GRCh38]
Chr2:69583422 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.956-142A>G single nucleotide variant not provided [RCV000841169] Chr2:69346141 [GRCh38]
Chr2:69573273 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.8-257C>T single nucleotide variant not provided [RCV000831278] Chr2:69374370 [GRCh38]
Chr2:69601502 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.362T>C (p.Ile121Thr) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000799974] Chr2:69359314 [GRCh38]
Chr2:69586446 [GRCh37]
Chr2:2p13.3
uncertain significance
NC_000002.12:g.69359238A>G single nucleotide variant not provided [RCV000841677] Chr2:69586370 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.1271-158A>G single nucleotide variant not provided [RCV000841678] Chr2:69338213 [GRCh38]
Chr2:69565345 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.50G>A (p.Arg17Gln) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000786069] Chr2:69374071 [GRCh38]
Chr2:69601203 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_002056.4(GFPT1):c.543+285T>C single nucleotide variant not provided [RCV000842827] Chr2:69358044 [GRCh38]
Chr2:69585176 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.606-157dup duplication not provided [RCV000841167] Chr2:69354718..69354719 [GRCh38]
Chr2:69581850..69581851 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.*4403G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136606] Chr2:69321786 [GRCh38]
Chr2:69548918 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.*635G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136906] Chr2:69325554 [GRCh38]
Chr2:69552686 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1009+232_1009+234del microsatellite not provided [RCV000839674] Chr2:69347937..69347939 [GRCh38]
Chr2:69575069..69575071 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.7+271A>G single nucleotide variant not provided [RCV000842825] Chr2:69386794 [GRCh38]
Chr2:69613926 [GRCh37]
Chr2:2p13.3
benign
NM_002056.4(GFPT1):c.409-315G>T single nucleotide variant not provided [RCV000833304] Chr2:69358778 [GRCh38]
Chr2:69585910 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.1(GFPT1):c.305C>A (p.Pro102His) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000799053] Chr2:69363589 [GRCh38]
Chr2:69590721 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_002056.4(GFPT1):c.1865A>G (p.Lys622Arg) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000815942] Chr2:69327050 [GRCh38]
Chr2:69554182 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.957C>T (p.His319=) single nucleotide variant not provided [RCV000979081] Chr2:69348223 [GRCh38]
Chr2:69575355 [GRCh37]
Chr2:2p13.3
likely benign
NM_002056.4(GFPT1):c.848C>T (p.Ala283Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000797085] Chr2:69348278 [GRCh38]
Chr2:69575410 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs) insertion not provided [RCV000992078] Chr2:69338563..69338564 [GRCh38]
Chr2:69565695..69565696 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_001244710.2(GFPT1):c.-32C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001137010] Chr2:69387103 [GRCh38]
Chr2:69614235 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*1738C>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001139047] Chr2:69324451 [GRCh38]
Chr2:69551583 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2634C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138948] Chr2:69323555 [GRCh38]
Chr2:69550687 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.429C>T (p.Phe143=) single nucleotide variant not provided [RCV000915163] Chr2:69358443 [GRCh38]
Chr2:69585575 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001044489] Chr2:69342201 [GRCh38]
Chr2:69569333 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001202723] Chr2:69359308 [GRCh38]
Chr2:69586440 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001246183] Chr2:69363649 [GRCh38]
Chr2:69590781 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001213939] Chr2:69374006 [GRCh38]
Chr2:69601138 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001203302] Chr2:69326972 [GRCh38]
Chr2:69554104 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001221358] Chr2:69348297 [GRCh38]
Chr2:69575429 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1324+3G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001201703] Chr2:69338442 [GRCh38]
Chr2:69565574 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*6378G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143062] Chr2:69319811 [GRCh38]
Chr2:69546943 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2907C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136706] Chr2:69323282 [GRCh38]
Chr2:69550414 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.-80T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001137011] Chr2:69387151 [GRCh38]
Chr2:69614283 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.964C>T (p.Arg322Ter) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001065092] Chr2:69348216 [GRCh38]
Chr2:69575348 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.*2511T>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141545] Chr2:69323678 [GRCh38]
Chr2:69550810 [GRCh37]
Chr2:2p13.3
benign
NM_001244710.2(GFPT1):c.*1057G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141665] Chr2:69325132 [GRCh38]
Chr2:69552264 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.960C>T (p.Pro320=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001413929]|not provided [RCV000878281] Chr2:69348220 [GRCh38]
Chr2:69575352 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1267C>T (p.Leu423=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV000909969] Chr2:69338502 [GRCh38]
Chr2:69565634 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1851T>C (p.Tyr617=) single nucleotide variant not provided [RCV000932043] Chr2:69328313 [GRCh38]
Chr2:69555445 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.740-7G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV000937357] Chr2:69350190 [GRCh38]
Chr2:69577322 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1542G>A (p.Arg514=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001424809]|not provided [RCV000939741] Chr2:69329739 [GRCh38]
Chr2:69556871 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly) indel Congenital myasthenic syndrome 12 [RCV001239020] Chr2:69363563..69363564 [GRCh38]
Chr2:69590695..69590696 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001227099] Chr2:69358388 [GRCh38]
Chr2:69585520 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*6136C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138314] Chr2:69320053 [GRCh38]
Chr2:69547185 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001245120] Chr2:69363655 [GRCh38]
Chr2:69590787 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5800G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138733] Chr2:69320389 [GRCh38]
Chr2:69547521 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5764A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138734] Chr2:69320425 [GRCh38]
Chr2:69547557 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5476C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141316] Chr2:69320713 [GRCh38]
Chr2:69547845 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5448A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141318] Chr2:69320741 [GRCh38]
Chr2:69547873 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5390T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141320] Chr2:69320799 [GRCh38]
Chr2:69547931 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001236869] Chr2:69370100 [GRCh38]
Chr2:69597232 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001245295] Chr2:69350118 [GRCh38]
Chr2:69577250 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*4230C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138846] Chr2:69321959 [GRCh38]
Chr2:69549091 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1431T>C (p.Asp477=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141770] Chr2:69337949 [GRCh38]
Chr2:69565081 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.420C>G (p.Gly140=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001244186] Chr2:69358452 [GRCh38]
Chr2:69585584 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2323C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143381] Chr2:69323866 [GRCh38]
Chr2:69550998 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5353C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143171] Chr2:69320836 [GRCh38]
Chr2:69547968 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*3287G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143278] Chr2:69322902 [GRCh38]
Chr2:69550034 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001049627] Chr2:69354542 [GRCh38]
Chr2:69581674 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*4724A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136605] Chr2:69321465 [GRCh38]
Chr2:69548597 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*4830A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143172] Chr2:69321359 [GRCh38]
Chr2:69548491 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*1901A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136807] Chr2:69324288 [GRCh38]
Chr2:69551420 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*176C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001139146] Chr2:69326013 [GRCh38]
Chr2:69553145 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5437G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141319] Chr2:69320752 [GRCh38]
Chr2:69547884 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*3438A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141434] Chr2:69322751 [GRCh38]
Chr2:69549883 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2498A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141547] Chr2:69323691 [GRCh38]
Chr2:69550823 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2428G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141548] Chr2:69323761 [GRCh38]
Chr2:69550893 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.*977T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141666] Chr2:69325212 [GRCh38]
Chr2:69552344 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*5464A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141317] Chr2:69320725 [GRCh38]
Chr2:69547857 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*3921C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141433] Chr2:69322268 [GRCh38]
Chr2:69549400 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*4121A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138847] Chr2:69322068 [GRCh38]
Chr2:69549200 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*1G>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001139147] Chr2:69326188 [GRCh38]
Chr2:69553320 [GRCh37]
Chr2:2p13.3
uncertain significance
NC_000002.12:g.(?_69363535)_(69363680_?)del deletion Congenital myasthenic syndrome 12 [RCV001033810] Chr2:69590667..69590812 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001067466] Chr2:69354504 [GRCh38]
Chr2:69581636 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*6003G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138730] Chr2:69320186 [GRCh38]
Chr2:69547318 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.*5713T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138735] Chr2:69320476 [GRCh38]
Chr2:69547608 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2017A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136806] Chr2:69324172 [GRCh38]
Chr2:69551304 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2758G>A single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138946] Chr2:69323431 [GRCh38]
Chr2:69550563 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2722C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001138947] Chr2:69323467 [GRCh38]
Chr2:69550599 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*1464A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001139048] Chr2:69324725 [GRCh38]
Chr2:69551857 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*272T>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001136907] Chr2:69325917 [GRCh38]
Chr2:69553049 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001061327] Chr2:69387066 [GRCh38]
Chr2:69614198 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1106-1G>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001237056] Chr2:69342250 [GRCh38]
Chr2:69569382 [GRCh37]
Chr2:2p13.3
likely pathogenic
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001058228] Chr2:69327047 [GRCh38]
Chr2:69554179 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2418C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143379] Chr2:69323771 [GRCh38]
Chr2:69550903 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2410C>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143380] Chr2:69323779 [GRCh38]
Chr2:69550911 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*819T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143484] Chr2:69325370 [GRCh38]
Chr2:69552502 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143583] Chr2:69363567 [GRCh38]
Chr2:69590699 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001215122] Chr2:69338041 [GRCh38]
Chr2:69565173 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001219666] Chr2:69370091 [GRCh38]
Chr2:69597223 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001035094] Chr2:69363556 [GRCh38]
Chr2:69590688 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*2508A>T single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141546] Chr2:69323681 [GRCh38]
Chr2:69550813 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1687C>G (p.Arg563Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001141769] Chr2:69329335 [GRCh38]
Chr2:69556467 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.89_90del (p.Leu30fs) deletion Congenital myasthenic syndrome 12 [RCV001037299] Chr2:69374031..69374032 [GRCh38]
Chr2:69601163..69601164 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001056411] Chr2:69338526 [GRCh38]
Chr2:69565658 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1482G>C (p.Lys494Asn) single nucleotide variant not provided [RCV001090972] Chr2:69337898 [GRCh38]
Chr2:69565030 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.*673A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143485] Chr2:69325516 [GRCh38]
Chr2:69552648 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.539A>T (p.Gln180Leu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001143582] Chr2:69358333 [GRCh38]
Chr2:69585465 [GRCh37]
Chr2:2p13.3
uncertain significance
GRCh37/hg19 2p13.3(chr2:69506803-70159981)x1 copy number loss not provided [RCV001260153] Chr2:69506803..70159981 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu) single nucleotide variant Inborn genetic diseases [RCV001267515] Chr2:69338460 [GRCh38]
Chr2:69565592 [GRCh37]
Chr2:2p13.3
uncertain significance
GRCh37/hg19 2p13.3(chr2:69574320-69795504)x1 copy number loss not provided [RCV001260152] Chr2:69574320..69795504 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001325322] Chr2:69329412 [GRCh38]
Chr2:69556544 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001338213] Chr2:69329762 [GRCh38]
Chr2:69556894 [GRCh37]
Chr2:2p13.3
uncertain significance
NC_000002.11:g.(?_69597123)_(69597250_?)del deletion Congenital myasthenic syndrome 12 [RCV001295325] Chr2:69597123..69597250 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001343638] Chr2:69327014 [GRCh38]
Chr2:69554146 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001305171] Chr2:69337968 [GRCh38]
Chr2:69565100 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1458T>G (p.Pro486=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001392057] Chr2:69337922 [GRCh38]
Chr2:69565054 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1290dup (p.Arg431fs) duplication Congenital myasthenic syndrome 12 [RCV001382936] Chr2:69338478..69338479 [GRCh38]
Chr2:69565610..69565611 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.1101T>C (p.Tyr367=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001397269] Chr2:69345908 [GRCh38]
Chr2:69573040 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001346401] Chr2:69329398 [GRCh38]
Chr2:69556530 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001323209] Chr2:69327033 [GRCh38]
Chr2:69554165 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001350709] Chr2:69356512 [GRCh38]
Chr2:69583644 [GRCh37]
Chr2:2p13.3
uncertain significance
NC_000002.11:g.(?_69553299)_(69614213_?)dup duplication Congenital myasthenic syndrome 12 [RCV001322667] Chr2:69553299..69614213 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.902C>G (p.Ala301Gly) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001334995] Chr2:69348278 [GRCh38]
Chr2:69575410 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1212A>G (p.Gln404=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001395892] Chr2:69338557 [GRCh38]
Chr2:69565689 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001365669] Chr2:69363589 [GRCh38]
Chr2:69590721 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001351718] Chr2:69370003 [GRCh38]
Chr2:69597135 [GRCh37]
Chr2:2p13.3
uncertain significance
NM_001244710.2(GFPT1):c.1342T>C (p.Leu448=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001417818] Chr2:69338038 [GRCh38]
Chr2:69565170 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.2031C>T (p.His677=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001425674] Chr2:69326938 [GRCh38]
Chr2:69554070 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001386293] Chr2:69363562 [GRCh38]
Chr2:69590694 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.1845C>T (p.His615=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001401936] Chr2:69328319 [GRCh38]
Chr2:69555451 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.642A>G (p.Glu214=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001432377] Chr2:69354532 [GRCh38]
Chr2:69581664 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.1483-8T>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001412154] Chr2:69329806 [GRCh38]
Chr2:69556938 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.57C>T (p.Ile19=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001441204] Chr2:69374064 [GRCh38]
Chr2:69601196 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001378308] Chr2:69374077 [GRCh38]
Chr2:69601209 [GRCh37]
Chr2:2p13.3
likely pathogenic
NC_000002.11:g.(?_69553299)_(69614213_?)del deletion Congenital myasthenic syndrome 12 [RCV001381162] Chr2:69553299..69614213 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.1081A>C (p.Arg361=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001411172] Chr2:69345928 [GRCh38]
Chr2:69573060 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.739+6A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001402776] Chr2:69354253 [GRCh38]
Chr2:69581385 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.54A>G (p.Glu18=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001429593] Chr2:69374067 [GRCh38]
Chr2:69601199 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.686-8A>G single nucleotide variant Congenital myasthenic syndrome 12 [RCV001445717] Chr2:69354320 [GRCh38]
Chr2:69581452 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.597T>C (p.Val199=) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001394227] Chr2:69356504 [GRCh38]
Chr2:69583636 [GRCh37]
Chr2:2p13.3
likely benign
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) duplication Congenital myasthenic syndrome 12 [RCV001386837] Chr2:69354311..69354312 [GRCh38]
Chr2:69581443..69581444 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.931C>T (p.Arg311Ter) single nucleotide variant Congenital myasthenic syndrome 12 [RCV001382030] Chr2:69348249 [GRCh38]
Chr2:69575381 [GRCh37]
Chr2:2p13.3
pathogenic
NM_001244710.2(GFPT1):c.116-6G>C single nucleotide variant Congenital myasthenic syndrome 12 [RCV001401686] Chr2:69370114 [GRCh38]
Chr2:69597246 [GRCh37]
Chr2:2p13.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4241 AgrOrtholog
COSMIC GFPT1 COSMIC
Ensembl Genes ENSG00000198380 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000349860 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501332 UniProtKB/TrEMBL
  ENSP00000501359 UniProtKB/TrEMBL
  ENSP00000501469 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357308 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361060 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000494201 UniProtKB/TrEMBL
  ENST00000674438 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674507 UniProtKB/TrEMBL
Gene3D-CATH 3.60.20.10 UniProtKB/TrEMBL
GTEx ENSG00000198380 GTEx
HGNC ID HGNC:4241 ENTREZGENE
Human Proteome Map GFPT1 Human Proteome Map
InterPro GATase_2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS/AgaS_SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS/FrlB_SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlmS_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ntn_hydrolases_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2673 UniProtKB/Swiss-Prot
NCBI Gene 2673 ENTREZGENE
OMIM 138292 OMIM
  610542 OMIM
Pfam SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28651 PharmGKB
PROSITE GATASE_TYPE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56235 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs glmS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PRN4_HUMAN UniProtKB/TrEMBL
  A0A6I8PRT6_HUMAN UniProtKB/TrEMBL
  A0A6I8PTT9_HUMAN UniProtKB/TrEMBL
  GFPT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q53QE6 UniProtKB/Swiss-Prot
  Q9BXF8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GFPT1  glutamine--fructose-6-phosphate transaminase 1  GFPT1  glutamine-fructose-6-phosphate transaminase 1  Symbol and/or name change 5135510 APPROVED