PFKM (phosphofructokinase, muscle) - Rat Genome Database

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Gene: PFKM (phosphofructokinase, muscle) Homo sapiens
Analyze
Symbol: PFKM
Name: phosphofructokinase, muscle
RGD ID: 68621
HGNC Page HGNC:8877
Description: Enables several functions, including 6-phosphofructokinase activity; ATP binding activity; and fructose binding activity. Involved in several processes, including fructose 6-phosphate metabolic process; glycolytic process through fructose-6-phosphate; and muscle cell cellular homeostasis. Located in apical plasma membrane and nucleus. Part of 6-phosphofructokinase complex. Implicated in glycogen storage disease VII.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 6-phosphofructo-1-kinase; 6-phosphofructokinase type A; 6-phosphofructokinase, muscle type; ATP-dependent 6-phosphofructokinase, muscle type; ATP-PFK; GSD7; MGC8699; PFK-1; PFK-A; PFK-M; PFK1; PFKA; PFKX; phosphofructo-1-kinase isozyme A; phosphofructokinase 1; phosphofructokinase muscle; phosphofructokinase, polypeptide X; phosphofructokinase-M; phosphohexokinase; PPP1R122
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
GRCh381248,105,353 - 48,146,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,105,139 - 48,146,404 (+)EnsemblGRCh38hg38GRCh38
GRCh371248,499,136 - 48,540,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,802,817 - 46,826,154 (+)NCBINCBI36Build 36hg18NCBI36
Build 341246,802,814 - 46,826,154NCBI
Celera1247,297,160 - 47,337,691 (+)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,531,136 - 45,571,668 (+)NCBIHuRef
CHM1_11248,465,088 - 48,505,624 (+)NCBICHM1_1
T2T-CHM13v2.01248,066,690 - 48,107,749 (+)NCBIT2T-CHM13v2.0
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)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-D  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
ADP  (EXP)
aflatoxin B1  (EXP)
alpha-naphthoflavone  (EXP)
alpha-pinene  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
angiotensin II  (ISO)
aristolochic acids  (ISO)
ATP  (EXP)
Bardoxolone methyl  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-fructofuranose 2,6-bisphosphate  (EXP)
bicalutamide  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
celastrol  (ISO)
CGP 52608  (EXP)
citric acid  (EXP)
clofibrate  (ISO)
clotrimazole  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin 460  (EXP)
cyclosporin A  (EXP)
daunorubicin  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
dinophysistoxin 1  (EXP)
doxorubicin  (EXP,ISO)
epoxiconazole  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gallic acid  (EXP)
glutathione  (EXP)
Ile(5)-angiotensin II  (ISO)
indole-3-methanol  (ISO)
indometacin  (ISO)
inulin  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
niclosamide  (EXP)
ochratoxin A  (ISO)
orphenadrine  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (EXP)
progesterone  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sunitinib  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Triptolide  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
zinc acetate  (ISO)
zinc atom  (ISO)
zinc sulfate  (EXP)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. Amit R, etal., Muscle Nerve. 1992 Apr;15(4):455-8.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Isoenzymes of phosphofructokinase in the rat. Demonstration of the three non-identical subunits by biochemical, immunochemical and kinetic studies. Vora S, etal., Biochem J. 1985 Jul 15;229(2):333-41.
Additional References at PubMed
PMID:125160   PMID:156693   PMID:1833270   PMID:2140567   PMID:2140573   PMID:2526044   PMID:2526045   PMID:2822475   PMID:2960695   PMID:6444532   PMID:6444721   PMID:6451249  
PMID:6459054   PMID:7479776   PMID:7513946   PMID:7550225   PMID:7825568   PMID:8037209   PMID:8444874   PMID:8661033   PMID:8780720   PMID:8889548   PMID:8889589   PMID:9252390  
PMID:9389749   PMID:9443500   PMID:10187848   PMID:12432079   PMID:12477932   PMID:12649290   PMID:14760703   PMID:15020257   PMID:15489334   PMID:16344560   PMID:17544406   PMID:18029348  
PMID:18624398   PMID:18854154   PMID:18996102   PMID:19019082   PMID:19165527   PMID:19394292   PMID:20379614   PMID:20467437   PMID:20483646   PMID:20602615   PMID:20800603   PMID:20849852  
PMID:21124851   PMID:21145461   PMID:21573193   PMID:21873635   PMID:21988832   PMID:22133655   PMID:22268729   PMID:22474333   PMID:22658674   PMID:22863883   PMID:22939629   PMID:22995305  
PMID:23088713   PMID:23376485   PMID:24211586   PMID:24306210   PMID:24412244   PMID:24493630   PMID:24778252   PMID:24797263   PMID:25199915   PMID:25315684   PMID:25416956   PMID:25681748  
PMID:25796446   PMID:25921289   PMID:25974097   PMID:25985179   PMID:26337471   PMID:26344197   PMID:26446488   PMID:26496610   PMID:26831064   PMID:26871637   PMID:26972000   PMID:27025967  
PMID:27182664   PMID:27342126   PMID:27684187   PMID:28514442   PMID:28515276   PMID:28646105   PMID:28675297   PMID:28718761   PMID:29038421   PMID:29395067   PMID:29467282   PMID:29507755  
PMID:29563071   PMID:29568061   PMID:30778058   PMID:30833792   PMID:30948266   PMID:31067491   PMID:31091453   PMID:31469100   PMID:31586073   PMID:31871319   PMID:32239614   PMID:32457219  
PMID:32687490   PMID:32786267   PMID:32807901   PMID:32877691   PMID:33025742   PMID:33082514   PMID:33141153   PMID:33404290   PMID:33462405   PMID:33516882   PMID:33545068   PMID:33567341  
PMID:33897890   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34017080   PMID:34079125   PMID:34709727   PMID:35013218   PMID:35032548   PMID:35241646   PMID:35256949   PMID:35328104  
PMID:35384245   PMID:35439318   PMID:35509820   PMID:35676659   PMID:35777956   PMID:35831314   PMID:35838787   PMID:35944360   PMID:36057605   PMID:36114006   PMID:36168627   PMID:36215168  
PMID:36253358   PMID:36517590   PMID:36601784   PMID:36929488   PMID:37622331   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
PFKM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,105,353 - 48,146,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,105,139 - 48,146,404 (+)EnsemblGRCh38hg38GRCh38
GRCh371248,499,136 - 48,540,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,802,817 - 46,826,154 (+)NCBINCBI36Build 36hg18NCBI36
Build 341246,802,814 - 46,826,154NCBI
Celera1247,297,160 - 47,337,691 (+)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,531,136 - 45,571,668 (+)NCBIHuRef
CHM1_11248,465,088 - 48,505,624 (+)NCBICHM1_1
T2T-CHM13v2.01248,066,690 - 48,107,749 (+)NCBIT2T-CHM13v2.0
Pfkm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391597,990,470 - 98,030,328 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1597,990,470 - 98,030,332 (+)EnsemblGRCm39 Ensembl
GRCm381598,092,589 - 98,132,447 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,092,589 - 98,132,451 (+)EnsemblGRCm38mm10GRCm38
MGSCv371597,923,020 - 97,962,878 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,940,155 - 97,960,485 (+)NCBIMGSCv36mm8
Celera15100,219,444 - 100,262,084 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.09NCBI
Pfkm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,100,684 - 131,138,250 (+)NCBIGRCr8
mRatBN7.27129,221,679 - 129,259,192 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,221,653 - 129,259,192 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7131,031,658 - 131,055,839 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,257,199 - 133,281,380 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,169,669 - 133,193,851 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07139,702,066 - 139,722,132 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7139,685,573 - 139,722,132 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07138,837,772 - 138,857,276 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47136,826,122 - 136,846,040 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17136,898,639 - 136,922,477 (+)NCBI
Celera7125,730,934 - 125,751,002 (+)NCBICelera
RH 3.4 Map71088.6RGD
Cytogenetic Map7q36NCBI
Pfkm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555006,978,893 - 7,022,309 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555006,979,169 - 7,020,375 (+)NCBIChiLan1.0ChiLan1.0
PFKM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21046,018,686 - 46,059,557 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11246,015,444 - 46,056,280 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01240,584,321 - 40,625,245 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11241,459,346 - 41,500,101 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1241,459,346 - 41,499,476 (-)Ensemblpanpan1.1panPan2
PFKM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,620,300 - 6,640,649 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,620,300 - 6,663,670 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2739,641,501 - 39,686,323 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0276,687,848 - 6,732,671 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl276,687,848 - 6,732,740 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,625,373 - 6,670,151 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,660,147 - 6,704,882 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02739,930,101 - 39,974,930 (+)NCBIUU_Cfam_GSD_1.0
Pfkm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494567,132,891 - 67,175,202 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,006,046 - 6,032,899 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,006,247 - 6,031,939 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PFKM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl578,476,123 - 78,526,997 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1578,475,473 - 78,525,052 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2581,673,123 - 81,695,166 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap5q25NCBI
PFKM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11144,332,857 - 44,378,273 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1144,334,605 - 44,377,877 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037202,000,136 - 202,046,219 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pfkm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248164,131,752 - 4,156,749 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248164,132,511 - 4,156,809 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PFKM
617 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000289.6(PFKM):c.2176C>T (p.Leu726=) single nucleotide variant Glycogen storage disease, type VII [RCV001412333] Chr12:48145293 [GRCh38]
Chr12:48539076 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro) single nucleotide variant Glycogen storage disease, type VII [RCV000001213] Chr12:48130393 [GRCh38]
Chr12:48524176 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala) single nucleotide variant Glycogen storage disease, type VII [RCV000001214] Chr12:48142041 [GRCh38]
Chr12:48535824 [GRCh37]
Chr12:12q13.11
pathogenic|uncertain significance
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu) single nucleotide variant Glycogen storage disease, type VII [RCV000001216] Chr12:48130393 [GRCh38]
Chr12:48524176 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) single nucleotide variant Glycogen storage disease, type VII [RCV000001217] Chr12:48132913 [GRCh38]
Chr12:48526696 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) single nucleotide variant Glycogen storage disease, type VII [RCV000001218] Chr12:48145096 [GRCh38]
Chr12:48538879 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1341+1G>T single nucleotide variant Glycogen storage disease, type VII [RCV000001211] Chr12:48140872 [GRCh38]
Chr12:48534655 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.428-2A>C single nucleotide variant Glycogen storage disease, type VII [RCV000001212] Chr12:48133313 [GRCh38]
Chr12:48527096 [GRCh37]
Chr12:12q13.11
pathogenic
PFKM, IVS5DS, G-A, +1 single nucleotide variant Glycogen storage disease, type VII [RCV000001215] Chr12:12q13.3 pathogenic
PFKM, 1-BP DEL, 2003C deletion Glycogen storage disease, type VII [RCV000001219] Chr12:12q13.3 pathogenic
NM_000289.6(PFKM):c.2137A>G (p.Met713Val) single nucleotide variant not provided [RCV000122465] Chr12:48145254 [GRCh38]
Chr12:48539037 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1192-4A>G single nucleotide variant Glycogen storage disease, type VII [RCV001494591] Chr12:48140718 [GRCh38]
Chr12:48534501 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr) single nucleotide variant Glycogen storage disease, type VII [RCV001286169] Chr12:48145243 [GRCh38]
Chr12:48539026 [GRCh37]
Chr12:12q13.11
uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
NM_000289.6(PFKM):c.237+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV000169670]|Rhabdomyolysis [RCV000662285]|not provided [RCV002243838] Chr12:48131394 [GRCh38]
Chr12:48525177 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) single nucleotide variant Glycogen storage disease, type VII [RCV001079312]|not provided [RCV000756472] Chr12:48140869 [GRCh38]
Chr12:48534652 [GRCh37]
Chr12:12q13.11
benign|likely benign
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12
pathogenic
NM_000289.6(PFKM):c.1880+27A>G single nucleotide variant Glycogen storage disease, type VII [RCV001533439]|not provided [RCV000675440]|not specified [RCV000243490] Chr12:48143841 [GRCh38]
Chr12:48537624 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.844-44G>T single nucleotide variant not provided [RCV001541245]|not specified [RCV000251013] Chr12:48135247 [GRCh38]
Chr12:48529030 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.747+24T>G single nucleotide variant not provided [RCV000675437]|not specified [RCV000246281] Chr12:48134853 [GRCh38]
Chr12:48528636 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.246G>A (p.Thr82=) single nucleotide variant Glycogen storage disease, type VII [RCV000283573]|not provided [RCV000675433]|not specified [RCV000253516] Chr12:48132876 [GRCh38]
Chr12:48526659 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.2093-14A>G single nucleotide variant Glycogen storage disease, type VII [RCV000267403]|not provided [RCV000675442]|not specified [RCV000243990] Chr12:48145196 [GRCh38]
Chr12:48538979 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) single nucleotide variant Glycogen storage disease, type VII [RCV000266125]|not provided [RCV000509427]|not specified [RCV000248761] Chr12:48145699 [GRCh38]
Chr12:48539482 [GRCh37]
Chr12:12q13.11
benign|not provided
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) single nucleotide variant Glycogen storage disease, type VII [RCV000631186]|not provided [RCV000675441]|not specified [RCV000251357] Chr12:48145125 [GRCh38]
Chr12:48538908 [GRCh37]
Chr12:12q13.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.428-39G>A single nucleotide variant Glycogen storage disease, type VII [RCV001533436]|not provided [RCV001675687]|not specified [RCV000253928] Chr12:48133276 [GRCh38]
Chr12:48527059 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.306C>T (p.Ala102=) single nucleotide variant Glycogen storage disease, type VII [RCV000374501]|not provided [RCV000675435]|not specified [RCV000249166] Chr12:48132936 [GRCh38]
Chr12:48526719 [GRCh37]
Chr12:12q13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_000289.6(PFKM):c.1819-39A>G single nucleotide variant not provided [RCV001589230]|not specified [RCV000251669] Chr12:48143714 [GRCh38]
Chr12:48537497 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+45G>A single nucleotide variant not specified [RCV000242417] Chr12:48139394 [GRCh38]
Chr12:48533177 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) single nucleotide variant Glycogen storage disease, type VII [RCV000322166]|not provided [RCV000675434]|not specified [RCV000245226] Chr12:48132929 [GRCh38]
Chr12:48526712 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.160-44A>G single nucleotide variant not provided [RCV001559762]|not specified [RCV000247748] Chr12:48131272 [GRCh38]
Chr12:48525055 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1500+32C>T single nucleotide variant Glycogen storage disease, type VII [RCV001001669]|not provided [RCV000836221]|not specified [RCV000242921] Chr12:48141859 [GRCh38]
Chr12:48535642 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.1342-14G>T single nucleotide variant Glycogen storage disease, type VII [RCV000307386]|not provided [RCV000675438]|not specified [RCV000252753] Chr12:48141297 [GRCh38]
Chr12:48535080 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.594-41A>G single nucleotide variant not provided [RCV001711530]|not specified [RCV000243097] Chr12:48134191 [GRCh38]
Chr12:48527974 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.1308C>G (p.Val436=) single nucleotide variant Glycogen storage disease, type VII [RCV001442383]|not specified [RCV000248010] Chr12:48140838 [GRCh38]
Chr12:48534621 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-38G>A single nucleotide variant not provided [RCV000836219]|not specified [RCV000250504] Chr12:48134194 [GRCh38]
Chr12:48527977 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.516C>T (p.Thr172=) single nucleotide variant Glycogen storage disease, type VII [RCV000407369]|not provided [RCV000675436]|not specified [RCV000245750] Chr12:48133403 [GRCh38]
Chr12:48527186 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1880+32G>C single nucleotide variant Glycogen storage disease, type VII [RCV001533440]|not provided [RCV000835757]|not specified [RCV000248238] Chr12:48143846 [GRCh38]
Chr12:48537629 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1127+43G>C single nucleotide variant not specified [RCV000250659] Chr12:48139392 [GRCh38]
Chr12:48533175 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) single nucleotide variant Glycogen storage disease, type VII [RCV000396042]|not provided [RCV000756473] Chr12:48140868 [GRCh38]
Chr12:48534651 [GRCh37]
Chr12:12q13.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000289.5(PFKM):c.-112T>G single nucleotide variant Glycogen storage disease, type VII [RCV000323145]|not provided [RCV001612979] Chr12:48119303 [GRCh38]
Chr12:48513086 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.2199-12A>G single nucleotide variant Glycogen storage disease, type VII [RCV000306016]|not provided [RCV001718628] Chr12:48145552 [GRCh38]
Chr12:48539335 [GRCh37]
Chr12:12q13.11
benign|likely benign|uncertain significance
NM_000289.5(PFKM):c.-171C>A single nucleotide variant Glycogen storage disease, type VII [RCV000270470]|not provided [RCV001672471] Chr12:48119244 [GRCh38]
Chr12:48513027 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.5(PFKM):c.-177G>C single nucleotide variant Glycogen storage disease, type VII [RCV000274905]|not provided [RCV001508331] Chr12:48119238 [GRCh38]
Chr12:48513021 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.638+15C>A single nucleotide variant Glycogen storage disease, type VII [RCV000295502]|not specified [RCV000436568] Chr12:48134291 [GRCh38]
Chr12:48528074 [GRCh37]
Chr12:12q13.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.*503G>T single nucleotide variant Glycogen storage disease, type VII [RCV000388201] Chr12:48146211 [GRCh38]
Chr12:48539994 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*622G>A single nucleotide variant Glycogen storage disease, type VII [RCV000296441] Chr12:48146330 [GRCh38]
Chr12:48540113 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg) single nucleotide variant Glycogen storage disease, type VII [RCV000364293] Chr12:48144111 [GRCh38]
Chr12:48537894 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*134G>A single nucleotide variant Glycogen storage disease, type VII [RCV000259886] Chr12:48145842 [GRCh38]
Chr12:48539625 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.360C>T (p.Gly120=) single nucleotide variant Glycogen storage disease, type VII [RCV000282483] Chr12:48132990 [GRCh38]
Chr12:48526773 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.820A>G (p.Ile274Val) single nucleotide variant Glycogen storage disease, type VII [RCV000352719]|not provided [RCV003480590] Chr12:48135015 [GRCh38]
Chr12:48528798 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys) single nucleotide variant Glycogen storage disease, type VII [RCV000404608] Chr12:48137817 [GRCh38]
Chr12:48531600 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1063-7C>T single nucleotide variant Glycogen storage disease, type VII [RCV000312118] Chr12:48139278 [GRCh38]
Chr12:48533061 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.453G>A (p.Thr151=) single nucleotide variant Glycogen storage disease, type VII [RCV000335148]|not specified [RCV000437761] Chr12:48133340 [GRCh38]
Chr12:48527123 [GRCh37]
Chr12:12q13.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.2201A>G (p.His734Arg) single nucleotide variant Glycogen storage disease, type VII [RCV000358403]|not provided [RCV003480591] Chr12:48145566 [GRCh38]
Chr12:48539349 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.5(PFKM):c.-174G>A single nucleotide variant Glycogen storage disease, type VII [RCV000362895] Chr12:48119241 [GRCh38]
Chr12:48513024 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*3C>T single nucleotide variant Glycogen storage disease, type VII [RCV000318944] Chr12:48145711 [GRCh38]
Chr12:48539494 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.846G>A (p.Leu282=) single nucleotide variant Glycogen storage disease, type VII [RCV001277403] Chr12:48135293 [GRCh38]
Chr12:48529076 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.5(PFKM):c.-176C>T single nucleotide variant Glycogen storage disease, type VII [RCV000329129] Chr12:48119239 [GRCh38]
Chr12:48513022 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.5(PFKM):c.-64C>T single nucleotide variant Glycogen storage disease, type VII [RCV000380343] Chr12:48119351 [GRCh38]
Chr12:48513134 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) single nucleotide variant Glycogen storage disease, type VII [RCV000364433] Chr12:48140772 [GRCh38]
Chr12:48534555 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.*489T>A single nucleotide variant Glycogen storage disease, type VII [RCV000317409] Chr12:48146197 [GRCh38]
Chr12:48539980 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2194T>G (p.Phe732Val) single nucleotide variant not provided [RCV000585555] Chr12:48145311 [GRCh38]
Chr12:48539094 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*98G>A single nucleotide variant Glycogen storage disease, type VII [RCV000375600] Chr12:48145806 [GRCh38]
Chr12:48539589 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) single nucleotide variant Glycogen storage disease, type VII [RCV000631185]|not provided [RCV000592245] Chr12:48140833 [GRCh38]
Chr12:48534616 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1993-7_1993-4del deletion not provided [RCV000416196] Chr12:48145024..48145027 [GRCh38]
Chr12:48538807..48538810 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1413-2A>G single nucleotide variant Glycogen storage disease, type VII [RCV001065921]|not provided [RCV000733881] Chr12:48141738 [GRCh38]
Chr12:48535521 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.5C>T (p.Thr2Ile) single nucleotide variant not provided [RCV000732676] Chr12:48122779 [GRCh38]
Chr12:48516562 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.103A>C (p.Arg35=) single nucleotide variant Glycogen storage disease, type VII [RCV001470788]|not specified [RCV000420711] Chr12:48130380 [GRCh38]
Chr12:48524163 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1501-15C>T single nucleotide variant Glycogen storage disease, type VII [RCV001803744]|not specified [RCV000434373] Chr12:48141899 [GRCh38]
Chr12:48535682 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) single nucleotide variant Glycogen storage disease, type VII [RCV001465570]|not specified [RCV000427834] Chr12:48145123 [GRCh38]
Chr12:48538906 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-19C>T single nucleotide variant Glycogen storage disease, type VII [RCV002521740]|not specified [RCV000418163] Chr12:48139266 [GRCh38]
Chr12:48533049 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1401T>C (p.Leu467=) single nucleotide variant Glycogen storage disease, type VII [RCV000908848]|not specified [RCV000422013] Chr12:48141370 [GRCh38]
Chr12:48535153 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.594-18T>A single nucleotide variant Glycogen storage disease, type VII [RCV002521769]|not specified [RCV000433570] Chr12:48134214 [GRCh38]
Chr12:48527997 [GRCh37]
Chr12:12q13.11
likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr) single nucleotide variant Glycogen storage disease, type VII [RCV001835822]|not provided [RCV000485586] Chr12:48135012 [GRCh38]
Chr12:48528795 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001274001]|not provided [RCV000485301] Chr12:48130392 [GRCh38]
Chr12:48524175 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) single nucleotide variant Glycogen storage disease, type VII [RCV001284933]|not provided [RCV000509231] Chr12:48107378 [GRCh38]
Chr12:48501161 [GRCh37]
Chr12:12q13.11
benign|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) single nucleotide variant Glycogen storage disease, type VII [RCV001403370]|not specified [RCV000603633] Chr12:48140790 [GRCh38]
Chr12:48534573 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1637T>A (p.Leu546His) single nucleotide variant Inborn genetic diseases [RCV003250244] Chr12:48142050 [GRCh38]
Chr12:48535833 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.809A>T (p.Asn270Ile) single nucleotide variant Inborn genetic diseases [RCV003281646] Chr12:48135004 [GRCh38]
Chr12:48528787 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) indel Glycogen storage disease, type VII [RCV000631187]|not provided [RCV002275121] Chr12:48140868..48140869 [GRCh38]
Chr12:48534651..48534652 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NM_000289.6(PFKM):c.233A>T (p.Gln78Leu) single nucleotide variant Inborn genetic diseases [RCV003268792] Chr12:48131389 [GRCh38]
Chr12:48525172 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1412+6T>C single nucleotide variant Glycogen storage disease, type VII [RCV002531639]|not specified [RCV000611211] Chr12:48141387 [GRCh38]
Chr12:48535170 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NM_000289.6(PFKM):c.1191+6G>T single nucleotide variant Glycogen storage disease, type VII [RCV002531708]|not specified [RCV000611528] Chr12:48139918 [GRCh38]
Chr12:48533701 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NM_000289.6(PFKM):c.844-17T>A single nucleotide variant Glycogen storage disease, type VII [RCV002064287]|not specified [RCV000612000] Chr12:48135274 [GRCh38]
Chr12:48529057 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.2092+17C>T single nucleotide variant Glycogen storage disease, type VII [RCV002531181]|not specified [RCV000614861] Chr12:48145147 [GRCh38]
Chr12:48538930 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.702A>T (p.Pro234=) single nucleotide variant Glycogen storage disease, type VII [RCV000962254]|not provided [RCV001697400] Chr12:48134784 [GRCh38]
Chr12:48528567 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.570T>C (p.Asp190=) single nucleotide variant Glycogen storage disease, type VII [RCV001434188]|not specified [RCV000607167] Chr12:48133457 [GRCh38]
Chr12:48527240 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1867G>A (p.Gly623Ser) single nucleotide variant not provided [RCV000675439] Chr12:48143801 [GRCh38]
Chr12:48537584 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) single nucleotide variant Glycogen storage disease, type VII [RCV000670080] Chr12:48139349 [GRCh38]
Chr12:48533132 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.1005A>G (p.Val335=) single nucleotide variant Glycogen storage disease, type VII [RCV000686340] Chr12:48137789 [GRCh38]
Chr12:48531572 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) single nucleotide variant Glycogen storage disease, type VII [RCV000709984]|Inborn genetic diseases [RCV003165940]|not provided [RCV001759430] Chr12:48122833 [GRCh38]
Chr12:48516616 [GRCh37]
Chr12:12q13.11
uncertain significance|not provided
NM_000289.6(PFKM):c.1191+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV000696045] Chr12:48139913 [GRCh38]
Chr12:48533696 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) single nucleotide variant Glycogen storage disease, type VII [RCV000705427] Chr12:48139331 [GRCh38]
Chr12:48533114 [GRCh37]
Chr12:12q13.11
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) single nucleotide variant Glycogen storage disease, type VII [RCV000941174] Chr12:48145238 [GRCh38]
Chr12:48539021 [GRCh37]
Chr12:12q13.11
likely benign|conflicting interpretations of pathogenicity
NM_001166686.2(PFKM):c.-9-281A>T single nucleotide variant not provided [RCV001546294] Chr12:48107084 [GRCh38]
Chr12:48500867 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) single nucleotide variant Glycogen storage disease, type VII [RCV001465890] Chr12:48142907 [GRCh38]
Chr12:48536690 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile) single nucleotide variant Glycogen storage disease, type VII [RCV001580759] Chr12:48140785 [GRCh38]
Chr12:48534568 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2078_2081dup (p.Ser694fs) microsatellite not provided [RCV000994909] Chr12:48145113..48145114 [GRCh38]
Chr12:48538896..48538897 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.160-260A>G single nucleotide variant not provided [RCV001570053] Chr12:48131056 [GRCh38]
Chr12:48524839 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.160-229A>G single nucleotide variant not provided [RCV001612364] Chr12:48131087 [GRCh38]
Chr12:48524870 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) single nucleotide variant Glycogen storage disease, type VII [RCV000878987] Chr12:48122815 [GRCh38]
Chr12:48516598 [GRCh37]
Chr12:12q13.11
likely benign|conflicting interpretations of pathogenicity
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) single nucleotide variant Glycogen storage disease, type VII [RCV000942090] Chr12:48139903 [GRCh38]
Chr12:48533686 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1819-9C>A single nucleotide variant Glycogen storage disease, type VII [RCV000975570] Chr12:48143744 [GRCh38]
Chr12:48537527 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1818+10C>T single nucleotide variant Glycogen storage disease, type VII [RCV000982369] Chr12:48142956 [GRCh38]
Chr12:48536739 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1881-8C>T single nucleotide variant Glycogen storage disease, type VII [RCV000981505] Chr12:48144038 [GRCh38]
Chr12:48537821 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.318G>A (p.Val106=) single nucleotide variant Glycogen storage disease, type VII [RCV000943724] Chr12:48132948 [GRCh38]
Chr12:48526731 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) single nucleotide variant Glycogen storage disease, type VII [RCV000897540] Chr12:48141803 [GRCh38]
Chr12:48535586 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2040C>T (p.Gly680=) single nucleotide variant Glycogen storage disease, type VII [RCV000960475] Chr12:48145078 [GRCh38]
Chr12:48538861 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln) single nucleotide variant Glycogen storage disease, type VII [RCV001287107] Chr12:48140825 [GRCh38]
Chr12:48534608 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001284981] Chr12:48145584 [GRCh38]
Chr12:48539367 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2003del (p.Pro668fs) deletion Glycogen storage disease [RCV000826149]|Glycogen storage disease, type VII [RCV000779105]|not provided [RCV002464314] Chr12:48145039 [GRCh38]
Chr12:48538822 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.237+188G>A single nucleotide variant not provided [RCV000826598] Chr12:48131581 [GRCh38]
Chr12:48525364 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.638+161C>T single nucleotide variant Glycogen storage disease, type VII [RCV001533437]|not provided [RCV000826600] Chr12:48134437 [GRCh38]
Chr12:48528220 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) single nucleotide variant Glycogen storage disease, type VII [RCV000920524] Chr12:48141791 [GRCh38]
Chr12:48535574 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-6C>G single nucleotide variant Glycogen storage disease, type VII [RCV000920593] Chr12:48139279 [GRCh38]
Chr12:48533062 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) single nucleotide variant Glycogen storage disease, type VII [RCV001277405] Chr12:48142898 [GRCh38]
Chr12:48536681 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NM_000289.6(PFKM):c.1342-7C>T single nucleotide variant Glycogen storage disease, type VII [RCV001474268] Chr12:48141304 [GRCh38]
Chr12:48535087 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1192-5T>C single nucleotide variant Glycogen storage disease, type VII [RCV000943846] Chr12:48140717 [GRCh38]
Chr12:48534500 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.292C>G (p.Arg98Gly) single nucleotide variant Inborn genetic diseases [RCV003267544] Chr12:48132922 [GRCh38]
Chr12:48526705 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.639-85T>C single nucleotide variant Glycogen storage disease, type VII [RCV001533438]|not provided [RCV000835571] Chr12:48134636 [GRCh38]
Chr12:48528419 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1653+8C>T single nucleotide variant Glycogen storage disease, type VII [RCV001089134]|not provided [RCV000841531] Chr12:48142074 [GRCh38]
Chr12:48535857 [GRCh37]
Chr12:12q13.11
likely benign
NM_001166686.2(PFKM):c.-9-284C>G single nucleotide variant not provided [RCV000831362] Chr12:48107081 [GRCh38]
Chr12:48500864 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.427+52G>A single nucleotide variant Glycogen storage disease, type VII [RCV001533435]|not provided [RCV000835755] Chr12:48133109 [GRCh38]
Chr12:48526892 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.427+129T>G single nucleotide variant not provided [RCV000835756] Chr12:48133186 [GRCh38]
Chr12:48526969 [GRCh37]
Chr12:12q13.11
benign
NC_000012.12:g.48143846G>C single nucleotide variant not provided [RCV000835757] Chr12:48537629 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) single nucleotide variant Glycogen storage disease, type VII [RCV000823397] Chr12:48145647 [GRCh38]
Chr12:48539430 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1993-199A>G single nucleotide variant not provided [RCV000831843] Chr12:48144832 [GRCh38]
Chr12:48538615 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer) deletion Glycogen storage disease, type VII [RCV000817843] Chr12:48144092..48144096 [GRCh38]
Chr12:48537875..48537879 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1191+125G>T single nucleotide variant not provided [RCV000836220] Chr12:48140037 [GRCh38]
Chr12:48533820 [GRCh37]
Chr12:12q13.11
likely benign
NC_000012.12:g.48141859C>T single nucleotide variant not provided [RCV000836221] Chr12:48535642 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-300C>T single nucleotide variant not provided [RCV000828737] Chr12:48133932 [GRCh38]
Chr12:48527715 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.593+255T>C single nucleotide variant not provided [RCV000832702] Chr12:48133735 [GRCh38]
Chr12:48527518 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-295A>G single nucleotide variant not provided [RCV000832703] Chr12:48133937 [GRCh38]
Chr12:48527720 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+201G>A single nucleotide variant not provided [RCV000826599] Chr12:48131594 [GRCh38]
Chr12:48525377 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) single nucleotide variant Glycogen storage disease, type VII [RCV000811535] Chr12:48132965 [GRCh38]
Chr12:48526748 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.238-291A>G single nucleotide variant not provided [RCV000844585] Chr12:48132577 [GRCh38]
Chr12:48526360 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1192-217T>G single nucleotide variant not provided [RCV000826619] Chr12:48140505 [GRCh38]
Chr12:48534288 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) single nucleotide variant Glycogen storage disease, type VII [RCV000800630]|Inborn genetic diseases [RCV002537125] Chr12:48142855 [GRCh38]
Chr12:48536638 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) single nucleotide variant Glycogen storage disease, type VII [RCV001492160]|not provided [RCV000827404] Chr12:48143791 [GRCh38]
Chr12:48537574 [GRCh37]
Chr12:12q13.11
likely benign
NC_000012.12:g.48134853T>G single nucleotide variant not provided [RCV000834934] Chr12:48528636 [GRCh37]
Chr12:12q13.11
likely benign
NC_000012.11:g.48501161A>T single nucleotide variant not provided [RCV000835568] Chr12:48501161 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.-8-254T>C single nucleotide variant not provided [RCV000835569] Chr12:48122513 [GRCh38]
Chr12:48516296 [GRCh37]
Chr12:12q13.11
benign
NM_001166686.2(PFKM):c.205+123A>G single nucleotide variant not provided [RCV000835570] Chr12:48108317 [GRCh38]
Chr12:48502100 [GRCh37]
Chr12:12q13.11
benign
NC_000012.12:g.48143841A>G single nucleotide variant not provided [RCV000835572] Chr12:48537624 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.-8-86G>T single nucleotide variant Glycogen storage disease, type VII [RCV001533433]|not provided [RCV000835573] Chr12:48122681 [GRCh38]
Chr12:48516464 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.459C>T (p.Ser153=) single nucleotide variant Glycogen storage disease, type VII [RCV001277401]|not provided [RCV000842129] Chr12:48133346 [GRCh38]
Chr12:48527129 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+73G>T single nucleotide variant Glycogen storage disease, type VII [RCV001533434]|not provided [RCV000836218] Chr12:48131466 [GRCh38]
Chr12:48525249 [GRCh37]
Chr12:12q13.11
likely benign
NC_000012.12:g.48134194G>A single nucleotide variant not provided [RCV000836219] Chr12:48527977 [GRCh37]
Chr12:12q13.11
likely benign
NM_001166686.2(PFKM):c.82+173A>G single nucleotide variant not provided [RCV000826618] Chr12:48107628 [GRCh38]
Chr12:48501411 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.*532A>G single nucleotide variant Glycogen storage disease, type VII [RCV001114585] Chr12:48146240 [GRCh38]
Chr12:48540023 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1063-5C>T single nucleotide variant Glycogen storage disease, type VII [RCV000917293] Chr12:48139280 [GRCh38]
Chr12:48533063 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.978G>A (p.Glu326=) single nucleotide variant Glycogen storage disease, type VII [RCV000897461] Chr12:48137762 [GRCh38]
Chr12:48531545 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.-8-457C>A single nucleotide variant not provided [RCV000843653] Chr12:48122310 [GRCh38]
Chr12:48516093 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.160-295A>G single nucleotide variant not provided [RCV000843655] Chr12:48131021 [GRCh38]
Chr12:48524804 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1062+288T>A single nucleotide variant not provided [RCV000843658] Chr12:48138134 [GRCh38]
Chr12:48531917 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.369T>G (p.Thr123=) single nucleotide variant Glycogen storage disease, type VII [RCV001398465] Chr12:48132999 [GRCh38]
Chr12:48526782 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.483G>A (p.Leu161=) single nucleotide variant Glycogen storage disease, type VII [RCV001830857]|not provided [RCV000841369] Chr12:48133370 [GRCh38]
Chr12:48527153 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+228C>A single nucleotide variant not provided [RCV000826601] Chr12:48135611 [GRCh38]
Chr12:48529394 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.936+287C>T single nucleotide variant not provided [RCV000832704] Chr12:48135670 [GRCh38]
Chr12:48529453 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) single nucleotide variant Glycogen storage disease, type VII [RCV001232301]|not provided [RCV000994908] Chr12:48130416 [GRCh38]
Chr12:48524199 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.-17G>C single nucleotide variant Glycogen storage disease, type VII [RCV001113123] Chr12:48119398 [GRCh38]
Chr12:48513181 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.888G>A (p.Leu296=) single nucleotide variant Glycogen storage disease, type VII [RCV001002422] Chr12:48135335 [GRCh38]
Chr12:48529118 [GRCh37]
Chr12:12q13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_000289.6(PFKM):c.*411G>A single nucleotide variant Glycogen storage disease, type VII [RCV001113228] Chr12:48146119 [GRCh38]
Chr12:48539902 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.936+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV001215639] Chr12:48135384 [GRCh38]
Chr12:48529167 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001241631] Chr12:48134272 [GRCh38]
Chr12:48528055 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1500+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV001215088] Chr12:48141828 [GRCh38]
Chr12:48535611 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu) single nucleotide variant Glycogen storage disease, type VII [RCV001210553] Chr12:48139336 [GRCh38]
Chr12:48533119 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*668G>T single nucleotide variant Glycogen storage disease, type VII [RCV001114587] Chr12:48146376 [GRCh38]
Chr12:48540159 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001111220] Chr12:48142061 [GRCh38]
Chr12:48535844 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.780_783del (p.Ile260fs) deletion Glycogen storage disease, type VII [RCV003104691] Chr12:48134974..48134977 [GRCh38]
Chr12:48528757..48528760 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.783T>C (p.Ile261=) single nucleotide variant Glycogen storage disease, type VII [RCV003104692] Chr12:48134978 [GRCh38]
Chr12:48528761 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1654-262T>G single nucleotide variant not provided [RCV001572246] Chr12:48142520 [GRCh38]
Chr12:48536303 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+264G>A single nucleotide variant not provided [RCV001566393] Chr12:48135647 [GRCh38]
Chr12:48529430 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.427+49C>T single nucleotide variant not provided [RCV001561015] Chr12:48133106 [GRCh38]
Chr12:48526889 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.926A>G (p.Asp309Gly) single nucleotide variant not provided [RCV002284332] Chr12:48135373 [GRCh38]
Chr12:48529156 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1412+114C>T single nucleotide variant not provided [RCV001590015] Chr12:48141495 [GRCh38]
Chr12:48535278 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.160-305T>G single nucleotide variant not provided [RCV001671804] Chr12:48131011 [GRCh38]
Chr12:48524794 [GRCh37]
Chr12:12q13.11
benign
NM_001267594.1(SENP1):c.-165T>A single nucleotide variant not provided [RCV001639948] Chr12:48106148 [GRCh38]
Chr12:48499931 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.428-68T>C single nucleotide variant not provided [RCV001611660] Chr12:48133247 [GRCh38]
Chr12:48527030 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1992+37A>G single nucleotide variant not provided [RCV001665449] Chr12:48144194 [GRCh38]
Chr12:48537977 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1654-266_1654-263del microsatellite not provided [RCV001620929] Chr12:48142509..48142512 [GRCh38]
Chr12:48536292..48536295 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.428-128C>G single nucleotide variant not provided [RCV001559828] Chr12:48133187 [GRCh38]
Chr12:48526970 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) single nucleotide variant Glycogen storage disease, type VII [RCV001395423] Chr12:48141934 [GRCh38]
Chr12:48535717 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) single nucleotide variant Glycogen storage disease, type VII [RCV001474723] Chr12:48140805 [GRCh38]
Chr12:48534588 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) single nucleotide variant Glycogen storage disease, type VII [RCV001405067] Chr12:48140784 [GRCh38]
Chr12:48534567 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) single nucleotide variant Glycogen storage disease, type VII [RCV000902144] Chr12:48145630 [GRCh38]
Chr12:48539413 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.297C>T (p.Leu99=) single nucleotide variant Glycogen storage disease, type VII [RCV001402450] Chr12:48132927 [GRCh38]
Chr12:48526710 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1992+5G>A single nucleotide variant Glycogen storage disease, type VII [RCV001244559] Chr12:48144162 [GRCh38]
Chr12:48537945 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001047427] Chr12:48132922 [GRCh38]
Chr12:48526705 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) single nucleotide variant Glycogen storage disease, type VII [RCV000934896] Chr12:48140850 [GRCh38]
Chr12:48534633 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2199-4G>A single nucleotide variant Glycogen storage disease, type VII [RCV001478664] Chr12:48145560 [GRCh38]
Chr12:48539343 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1302C>G (p.Leu434=) single nucleotide variant Glycogen storage disease, type VII [RCV002726201] Chr12:48140832 [GRCh38]
Chr12:48534615 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1341+83C>T single nucleotide variant not provided [RCV001577311] Chr12:48140954 [GRCh38]
Chr12:48534737 [GRCh37]
Chr12:12q13.11
likely benign
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu) single nucleotide variant Glycogen storage disease, type VII [RCV001578663] Chr12:48107426 [GRCh38]
Chr12:48501209 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.237+214G>A single nucleotide variant not provided [RCV001567579] Chr12:48131607 [GRCh38]
Chr12:48525390 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.159+89C>A single nucleotide variant not provided [RCV001635920] Chr12:48130525 [GRCh38]
Chr12:48524308 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1341+161dup duplication not provided [RCV001676445] Chr12:48141031..48141032 [GRCh38]
Chr12:48534814..48534815 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1818+153del deletion not provided [RCV001641515] Chr12:48143099 [GRCh38]
Chr12:48536882 [GRCh37]
Chr12:12q13.11
benign
NM_001267594.1(SENP1):c.-132G>A single nucleotide variant not provided [RCV001587636] Chr12:48106115 [GRCh38]
Chr12:48499898 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.*163G>A single nucleotide variant Glycogen storage disease, type VII [RCV001113226] Chr12:48145871 [GRCh38]
Chr12:48539654 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.*282C>T single nucleotide variant Glycogen storage disease, type VII [RCV001113227] Chr12:48145990 [GRCh38]
Chr12:48539773 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.864A>G (p.Gly288=) single nucleotide variant Glycogen storage disease, type VII [RCV001110465] Chr12:48135311 [GRCh38]
Chr12:48529094 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.965T>C (p.Met322Thr) single nucleotide variant Glycogen storage disease, type VII [RCV001110466] Chr12:48137749 [GRCh38]
Chr12:48531532 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1653+110T>G single nucleotide variant not provided [RCV001652151] Chr12:48142176 [GRCh38]
Chr12:48535959 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1654-159A>G single nucleotide variant not provided [RCV001609086] Chr12:48142623 [GRCh38]
Chr12:48536406 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile) single nucleotide variant Glycogen storage disease, type VII [RCV001580760] Chr12:48145225 [GRCh38]
Chr12:48539008 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1127+217G>A single nucleotide variant not provided [RCV001696477] Chr12:48139566 [GRCh38]
Chr12:48533349 [GRCh37]
Chr12:12q13.11
benign
NM_001166686.2(PFKM):c.205+55A>C single nucleotide variant not provided [RCV001566225] Chr12:48108249 [GRCh38]
Chr12:48502032 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-265G>A single nucleotide variant not provided [RCV001583894] Chr12:48139020 [GRCh38]
Chr12:48532803 [GRCh37]
Chr12:12q13.11
likely benign
NM_001166686.2(PFKM):c.205+166G>A single nucleotide variant not provided [RCV001567414] Chr12:48108360 [GRCh38]
Chr12:48502143 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro) single nucleotide variant Glycogen storage disease, type VII [RCV001056104] Chr12:48135382 [GRCh38]
Chr12:48529165 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.140G>A (p.Arg47His) single nucleotide variant Glycogen storage disease, type VII [RCV001040102] Chr12:48130417 [GRCh38]
Chr12:48524200 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*564G>A single nucleotide variant Glycogen storage disease, type VII [RCV001114586] Chr12:48146272 [GRCh38]
Chr12:48540055 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001203122] Chr12:48139337 [GRCh38]
Chr12:48533120 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.*452T>C single nucleotide variant Glycogen storage disease, type VII [RCV001113229] Chr12:48146160 [GRCh38]
Chr12:48539943 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala) single nucleotide variant Glycogen storage disease, type VII [RCV001114502] Chr12:48133401 [GRCh38]
Chr12:48527184 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly) single nucleotide variant Glycogen storage disease, type VII [RCV001114503]|Inborn genetic diseases [RCV002556241]|not provided [RCV002261278] Chr12:48134804 [GRCh38]
Chr12:48528587 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.468G>C (p.Leu156=) single nucleotide variant Glycogen storage disease, type VII [RCV001277402] Chr12:48133355 [GRCh38]
Chr12:48527138 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.1192-3_1192-2del microsatellite Glycogen storage disease, type VII [RCV001277404] Chr12:48140717..48140718 [GRCh38]
Chr12:48534500..48534501 [GRCh37]
Chr12:12q13.11
likely benign|uncertain significance
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu) single nucleotide variant Glycogen storage disease, type VII [RCV001277406] Chr12:48145639 [GRCh38]
Chr12:48539422 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1413-58C>A single nucleotide variant Glycogen storage disease, type VII [RCV001286953]|not provided [RCV001556143] Chr12:48141682 [GRCh38]
Chr12:48535465 [GRCh37]
Chr12:12q13.11
benign|likely benign
NM_000289.6(PFKM):c.564T>C (p.Ile188=) single nucleotide variant Glycogen storage disease, type VII [RCV001461864]|not provided [RCV001311815] Chr12:48133451 [GRCh38]
Chr12:48527234 [GRCh37]
Chr12:12q13.11
likely benign
NC_000012.11:g.(?_48240430)_(48539491_?)dup duplication not provided [RCV001319329] Chr12:48240430..48539491 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1500+9C>T single nucleotide variant Glycogen storage disease, type VII [RCV001415179] Chr12:48141836 [GRCh38]
Chr12:48535619 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2241C>T (p.Pro747=) single nucleotide variant Glycogen storage disease, type VII [RCV001413364] Chr12:48145606 [GRCh38]
Chr12:48539389 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2211C>G (p.Pro737=) single nucleotide variant Glycogen storage disease, type VII [RCV001423031] Chr12:48145576 [GRCh38]
Chr12:48539359 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1417C>T (p.Leu473=) single nucleotide variant Glycogen storage disease, type VII [RCV001422781] Chr12:48141744 [GRCh38]
Chr12:48535527 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.834C>T (p.Asp278=) single nucleotide variant Glycogen storage disease, type VII [RCV001422640] Chr12:48135029 [GRCh38]
Chr12:48528812 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+7A>G single nucleotide variant Glycogen storage disease, type VII [RCV001433005] Chr12:48139356 [GRCh38]
Chr12:48533139 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1285C>T (p.Gln429Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001333355] Chr12:48140815 [GRCh38]
Chr12:48534598 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.921C>T (p.Ala307=) single nucleotide variant Glycogen storage disease, type VII [RCV001392777] Chr12:48135368 [GRCh38]
Chr12:48529151 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.428-5G>A single nucleotide variant Glycogen storage disease, type VII [RCV001422902] Chr12:48133310 [GRCh38]
Chr12:48527093 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-6C>A single nucleotide variant Glycogen storage disease, type VII [RCV001286776] Chr12:48139279 [GRCh38]
Chr12:48533062 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.2337C>T (p.Ala779=) single nucleotide variant Glycogen storage disease, type VII [RCV001395475] Chr12:48145702 [GRCh38]
Chr12:48539485 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala) single nucleotide variant Glycogen storage disease, type VII [RCV001277400] Chr12:48122845 [GRCh38]
Chr12:48516628 [GRCh37]
Chr12:12q13.11
uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12
likely pathogenic
NM_000289.6(PFKM):c.327G>A (p.Gly109=) single nucleotide variant Glycogen storage disease, type VII [RCV001395210] Chr12:48132957 [GRCh38]
Chr12:48526740 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.747+10C>T single nucleotide variant Glycogen storage disease, type VII [RCV001401920] Chr12:48134839 [GRCh38]
Chr12:48528622 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1980T>A (p.Gly660=) single nucleotide variant Glycogen storage disease, type VII [RCV001505645] Chr12:48144145 [GRCh38]
Chr12:48537928 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1416T>C (p.Thr472=) single nucleotide variant Glycogen storage disease, type VII [RCV001505653] Chr12:48141743 [GRCh38]
Chr12:48535526 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1596del (p.Asn532fs) deletion not provided [RCV001508333] Chr12:48142009 [GRCh38]
Chr12:48535792 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1224G>C (p.Val408=) single nucleotide variant Glycogen storage disease, type VII [RCV001487234] Chr12:48140754 [GRCh38]
Chr12:48534537 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1311T>C (p.His437=) single nucleotide variant Glycogen storage disease, type VII [RCV001473347] Chr12:48140841 [GRCh38]
Chr12:48534624 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer) deletion Glycogen storage disease, type VII [RCV001380454] Chr12:48142020 [GRCh38]
Chr12:48535803 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1127+9A>C single nucleotide variant Glycogen storage disease, type VII [RCV001482023] Chr12:48139358 [GRCh38]
Chr12:48533141 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.912G>A (p.Thr304=) single nucleotide variant Glycogen storage disease, type VII [RCV001504636] Chr12:48135359 [GRCh38]
Chr12:48529142 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001385034] Chr12:48132928 [GRCh38]
Chr12:48526711 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1659T>C (p.Cys553=) single nucleotide variant Glycogen storage disease, type VII [RCV001488131] Chr12:48142787 [GRCh38]
Chr12:48536570 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1956C>T (p.Phe652=) single nucleotide variant Glycogen storage disease, type VII [RCV001417650] Chr12:48144121 [GRCh38]
Chr12:48537904 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.428-6T>C single nucleotide variant Glycogen storage disease, type VII [RCV001438865] Chr12:48133309 [GRCh38]
Chr12:48527092 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1599C>A (p.Val533=) single nucleotide variant Glycogen storage disease, type VII [RCV001441604] Chr12:48142012 [GRCh38]
Chr12:48535795 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2233C>T (p.Leu745=) single nucleotide variant Glycogen storage disease, type VII [RCV001441783] Chr12:48145598 [GRCh38]
Chr12:48539381 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.702A>G (p.Pro234=) single nucleotide variant Glycogen storage disease, type VII [RCV001430984] Chr12:48134784 [GRCh38]
Chr12:48528567 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1993-6C>T single nucleotide variant Glycogen storage disease, type VII [RCV001452160] Chr12:48145025 [GRCh38]
Chr12:48538808 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1161T>C (p.Leu387=) single nucleotide variant Glycogen storage disease, type VII [RCV001496925] Chr12:48139882 [GRCh38]
Chr12:48533665 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1032G>A (p.Val344=) single nucleotide variant Glycogen storage disease, type VII [RCV001502933] Chr12:48137816 [GRCh38]
Chr12:48531599 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.597C>T (p.His199=) single nucleotide variant Glycogen storage disease, type VII [RCV001488960] Chr12:48134235 [GRCh38]
Chr12:48528018 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2097G>C (p.Arg699=) single nucleotide variant Glycogen storage disease, type VII [RCV001491543] Chr12:48145214 [GRCh38]
Chr12:48538997 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1374C>G (p.Gly458=) single nucleotide variant Glycogen storage disease, type VII [RCV001500692]|not provided [RCV003389879] Chr12:48141343 [GRCh38]
Chr12:48535126 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.222G>A (p.Ser74=) single nucleotide variant Glycogen storage disease, type VII [RCV001483763] Chr12:48131378 [GRCh38]
Chr12:48525161 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.36G>A (p.Leu12=) single nucleotide variant Glycogen storage disease, type VII [RCV001474389] Chr12:48122810 [GRCh38]
Chr12:48516593 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1020T>C (p.Gly340=) single nucleotide variant Glycogen storage disease, type VII [RCV001483922] Chr12:48137804 [GRCh38]
Chr12:48531587 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.711C>T (p.Asp237=) single nucleotide variant Glycogen storage disease, type VII [RCV001439628] Chr12:48134793 [GRCh38]
Chr12:48528576 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1128-4A>G single nucleotide variant Glycogen storage disease, type VII [RCV001486911] Chr12:48139845 [GRCh38]
Chr12:48533628 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.552G>T (p.Arg184=) single nucleotide variant Glycogen storage disease, type VII [RCV001480642] Chr12:48133439 [GRCh38]
Chr12:48527222 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1044C>G (p.Leu348=) single nucleotide variant Glycogen storage disease, type VII [RCV001501441] Chr12:48137828 [GRCh38]
Chr12:48531611 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+10A>G single nucleotide variant Glycogen storage disease, type VII [RCV001398221] Chr12:48131403 [GRCh38]
Chr12:48525186 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+1G>T single nucleotide variant Glycogen storage disease, type VII [RCV001379631] Chr12:48139350 [GRCh38]
Chr12:48533133 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.627C>G (p.Gly209=) single nucleotide variant Glycogen storage disease, type VII [RCV001498569] Chr12:48134265 [GRCh38]
Chr12:48528048 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1200G>A (p.Ser400=) single nucleotide variant Glycogen storage disease, type VII [RCV001488050] Chr12:48140730 [GRCh38]
Chr12:48534513 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1212T>C (p.Ala404=) single nucleotide variant Glycogen storage disease, type VII [RCV001474829] Chr12:48140742 [GRCh38]
Chr12:48534525 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.192C>T (p.His64=) single nucleotide variant Glycogen storage disease, type VII [RCV001398618] Chr12:48131348 [GRCh38]
Chr12:48525131 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.477G>T (p.Val159=) single nucleotide variant Glycogen storage disease, type VII [RCV001486380] Chr12:48133364 [GRCh38]
Chr12:48527147 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.21T>C (p.His7=) single nucleotide variant Glycogen storage disease, type VII [RCV001469126] Chr12:48122795 [GRCh38]
Chr12:48516578 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-6C>T single nucleotide variant Glycogen storage disease, type VII [RCV001474868] Chr12:48139279 [GRCh38]
Chr12:48533062 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.748-6A>G single nucleotide variant Glycogen storage disease, type VII [RCV001429811] Chr12:48134937 [GRCh38]
Chr12:48528720 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-8T>C single nucleotide variant Glycogen storage disease, type VII [RCV001432605] Chr12:48137713 [GRCh38]
Chr12:48531496 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1347G>A (p.Glu449=) single nucleotide variant Glycogen storage disease, type VII [RCV001434207] Chr12:48141316 [GRCh38]
Chr12:48535099 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.471C>T (p.Asn157=) single nucleotide variant Glycogen storage disease, type VII [RCV001407198] Chr12:48133358 [GRCh38]
Chr12:48527141 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1503T>A (p.Ala501=) single nucleotide variant Glycogen storage disease, type VII [RCV001448926] Chr12:48141916 [GRCh38]
Chr12:48535699 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2190A>G (p.Thr730=) single nucleotide variant Glycogen storage disease, type VII [RCV001410071] Chr12:48145307 [GRCh38]
Chr12:48539090 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1908C>T (p.Thr636=) single nucleotide variant Glycogen storage disease, type VII [RCV001426682] Chr12:48144073 [GRCh38]
Chr12:48537856 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.129C>T (p.Phe43=) single nucleotide variant Glycogen storage disease, type VII [RCV001402690] Chr12:48130406 [GRCh38]
Chr12:48524189 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-4G>A single nucleotide variant Glycogen storage disease, type VII [RCV001449503] Chr12:48134228 [GRCh38]
Chr12:48528011 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1128-10C>A single nucleotide variant Glycogen storage disease, type VII [RCV001415895] Chr12:48139839 [GRCh38]
Chr12:48533622 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+10T>C single nucleotide variant Glycogen storage disease, type VII [RCV001439551] Chr12:48139359 [GRCh38]
Chr12:48533142 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=) single nucleotide variant Glycogen storage disease, type VII [RCV001426768] Chr12:48144097 [GRCh38]
Chr12:48537880 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2034G>A (p.Lys678=) single nucleotide variant Glycogen storage disease, type VII [RCV001411033] Chr12:48145072 [GRCh38]
Chr12:48538855 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001387775] Chr12:48131321 [GRCh38]
Chr12:48525104 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1413-64A>G single nucleotide variant Glycogen storage disease, type VII [RCV001387777] Chr12:48141676 [GRCh38]
Chr12:48535459 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1501-12TCT[2] microsatellite Glycogen storage disease, type VII [RCV001445474] Chr12:48141902..48141904 [GRCh38]
Chr12:48535685..48535687 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.138C>T (p.Ala46=) single nucleotide variant Glycogen storage disease, type VII [RCV001445487] Chr12:48130415 [GRCh38]
Chr12:48524198 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.543C>T (p.Ala181=) single nucleotide variant Glycogen storage disease, type VII [RCV001425807] Chr12:48133430 [GRCh38]
Chr12:48527213 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.66C>G (p.Thr22=) single nucleotide variant Glycogen storage disease, type VII [RCV001411609] Chr12:48122840 [GRCh38]
Chr12:48516623 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1501-2del deletion Glycogen storage disease, type VII [RCV001377683] Chr12:48141912 [GRCh38]
Chr12:48535695 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1014C>G (p.Leu338=) single nucleotide variant Glycogen storage disease, type VII [RCV001435554] Chr12:48137798 [GRCh38]
Chr12:48531581 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.309C>T (p.Tyr103=) single nucleotide variant Glycogen storage disease, type VII [RCV001435671] Chr12:48132939 [GRCh38]
Chr12:48526722 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.774C>T (p.Asn258=) single nucleotide variant Glycogen storage disease, type VII [RCV001454329] Chr12:48134969 [GRCh38]
Chr12:48528752 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=) single nucleotide variant Glycogen storage disease, type VII [RCV001472879] Chr12:48139876 [GRCh38]
Chr12:48533659 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1221C>T (p.Asn407=) single nucleotide variant Glycogen storage disease, type VII [RCV001493797] Chr12:48140751 [GRCh38]
Chr12:48534534 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1611C>T (p.Asp537=) single nucleotide variant Glycogen storage disease, type VII [RCV001468955] Chr12:48142024 [GRCh38]
Chr12:48535807 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2092+7G>A single nucleotide variant Glycogen storage disease, type VII [RCV001469024] Chr12:48145137 [GRCh38]
Chr12:48538920 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1834C>T (p.Leu612=) single nucleotide variant Glycogen storage disease, type VII [RCV001451859] Chr12:48143768 [GRCh38]
Chr12:48537551 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.859C>T (p.Leu287=) single nucleotide variant Glycogen storage disease, type VII [RCV001503479] Chr12:48135306 [GRCh38]
Chr12:48529089 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.159+10G>A single nucleotide variant Glycogen storage disease, type VII [RCV001452146] Chr12:48130446 [GRCh38]
Chr12:48524229 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.86-54G>T single nucleotide variant not provided [RCV001671515] Chr12:48130309 [GRCh38]
Chr12:48524092 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.639-145C>T single nucleotide variant not provided [RCV001615610] Chr12:48134576 [GRCh38]
Chr12:48528359 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1077C>G (p.Thr359=) single nucleotide variant Glycogen storage disease, type VII [RCV001500754] Chr12:48139299 [GRCh38]
Chr12:48533082 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.333C>T (p.Thr111=) single nucleotide variant Glycogen storage disease, type VII [RCV001466718] Chr12:48132963 [GRCh38]
Chr12:48526746 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-4G>A single nucleotide variant Glycogen storage disease, type VII [RCV001456190] Chr12:48137717 [GRCh38]
Chr12:48531500 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1647C>A (p.Ile549=) single nucleotide variant Glycogen storage disease, type VII [RCV001463793] Chr12:48142060 [GRCh38]
Chr12:48535843 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2199-9C>T single nucleotide variant Glycogen storage disease, type VII [RCV001481081] Chr12:48145555 [GRCh38]
Chr12:48539338 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-6C>T single nucleotide variant Glycogen storage disease, type VII [RCV001453205] Chr12:48137715 [GRCh38]
Chr12:48531498 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.844-8C>T single nucleotide variant Glycogen storage disease, type VII [RCV001481075] Chr12:48135283 [GRCh38]
Chr12:48529066 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1587C>T (p.Val529=) single nucleotide variant Glycogen storage disease, type VII [RCV001453468] Chr12:48142000 [GRCh38]
Chr12:48535783 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1302C>T (p.Leu434=) single nucleotide variant Glycogen storage disease, type VII [RCV001456923] Chr12:48140832 [GRCh38]
Chr12:48534615 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2292T>C (p.His764=) single nucleotide variant Glycogen storage disease, type VII [RCV001464286] Chr12:48145657 [GRCh38]
Chr12:48539440 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1701G>A (p.Val567=) single nucleotide variant Glycogen storage disease, type VII [RCV001472063] Chr12:48142829 [GRCh38]
Chr12:48536612 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.927C>T (p.Asp309=) single nucleotide variant Glycogen storage disease, type VII [RCV001457012] Chr12:48135374 [GRCh38]
Chr12:48529157 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1341+8del deletion Glycogen storage disease, type VII [RCV001520515] Chr12:48140876 [GRCh38]
Chr12:48534659 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.2092+9G>A single nucleotide variant Glycogen storage disease, type VII [RCV001486462] Chr12:48145139 [GRCh38]
Chr12:48538922 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1041C>T (p.Pro347=) single nucleotide variant Glycogen storage disease, type VII [RCV001470753] Chr12:48137825 [GRCh38]
Chr12:48531608 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala) single nucleotide variant Glycogen storage disease, type VII [RCV001520921] Chr12:48137788 [GRCh38]
Chr12:48531571 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.495T>A (p.Ile165=) single nucleotide variant Glycogen storage disease, type VII [RCV001469318] Chr12:48133382 [GRCh38]
Chr12:48527165 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1192-7T>C single nucleotide variant Glycogen storage disease, type VII [RCV001505029] Chr12:48140715 [GRCh38]
Chr12:48534498 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.987A>T (p.Pro329=) single nucleotide variant Glycogen storage disease, type VII [RCV001452963] Chr12:48137771 [GRCh38]
Chr12:48531554 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1617C>T (p.Ser539=) single nucleotide variant Glycogen storage disease, type VII [RCV001452976] Chr12:48142030 [GRCh38]
Chr12:48535813 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2253C>A (p.Ile751=) single nucleotide variant Glycogen storage disease, type VII [RCV001496399] Chr12:48145618 [GRCh38]
Chr12:48539401 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.870C>T (p.Asp290=) single nucleotide variant Glycogen storage disease, type VII [RCV001404251] Chr12:48135317 [GRCh38]
Chr12:48529100 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2127T>C (p.Cys709=) single nucleotide variant Glycogen storage disease, type VII [RCV001454027] Chr12:48145244 [GRCh38]
Chr12:48539027 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.825C>T (p.Thr275=) single nucleotide variant Glycogen storage disease, type VII [RCV001500737] Chr12:48135020 [GRCh38]
Chr12:48528803 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1503T>G (p.Ala501=) single nucleotide variant Glycogen storage disease, type VII [RCV001420032] Chr12:48141916 [GRCh38]
Chr12:48535699 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.593+10C>G single nucleotide variant Glycogen storage disease, type VII [RCV001434274] Chr12:48133490 [GRCh38]
Chr12:48527273 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1104C>T (p.Asp368=) single nucleotide variant Glycogen storage disease, type VII [RCV001456073] Chr12:48139326 [GRCh38]
Chr12:48533109 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1164A>G (p.Leu388=) single nucleotide variant Glycogen storage disease, type VII [RCV001434769] Chr12:48139885 [GRCh38]
Chr12:48533668 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.159+1G>T single nucleotide variant Glycogen storage disease, type VII [RCV001378843] Chr12:48130437 [GRCh38]
Chr12:48524220 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.2092+9G>T single nucleotide variant Glycogen storage disease, type VII [RCV001459599] Chr12:48145139 [GRCh38]
Chr12:48538922 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.132C>T (p.Thr44=) single nucleotide variant Glycogen storage disease, type VII [RCV001402526] Chr12:48130409 [GRCh38]
Chr12:48524192 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.366C>T (p.Leu122=) single nucleotide variant Glycogen storage disease, type VII [RCV001450347] Chr12:48132996 [GRCh38]
Chr12:48526779 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.5(PFKM):c.-65C>A single nucleotide variant not provided [RCV001508332] Chr12:48119350 [GRCh38]
Chr12:48513133 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.204C>T (p.Ala68=) single nucleotide variant Glycogen storage disease, type VII [RCV001497301] Chr12:48131360 [GRCh38]
Chr12:48525143 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1443C>T (p.Ile481=) single nucleotide variant Glycogen storage disease, type VII [RCV001501248] Chr12:48141770 [GRCh38]
Chr12:48535553 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2322G>A (p.Arg774=) single nucleotide variant Glycogen storage disease, type VII [RCV001485513] Chr12:48145687 [GRCh38]
Chr12:48539470 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1467C>T (p.Asn489=) single nucleotide variant Glycogen storage disease, type VII [RCV001427067] Chr12:48141794 [GRCh38]
Chr12:48535577 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1342-9del deletion Glycogen storage disease, type VII [RCV001437451] Chr12:48141302 [GRCh38]
Chr12:48535085 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.675C>T (p.Ala225=) single nucleotide variant Glycogen storage disease, type VII [RCV001477336] Chr12:48134757 [GRCh38]
Chr12:48528540 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp) single nucleotide variant Glycogen storage disease, type VII [RCV002541237]|not provided [RCV001786118] Chr12:48132892 [GRCh38]
Chr12:48526675 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_001354741.2(PFKM):c.-81+2015G>A single nucleotide variant not provided [RCV001770950] Chr12:48107434 [GRCh38]
Chr12:48501217 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys) single nucleotide variant Glycogen storage disease, type VII [RCV001788885] Chr12:48118502 [GRCh38]
Chr12:48512285 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.639-10C>G single nucleotide variant not provided [RCV001761278] Chr12:48134711 [GRCh38]
Chr12:48528494 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.52A>G (p.Ile18Val) single nucleotide variant Glycogen storage disease, type VII [RCV002544106]|not provided [RCV001761271] Chr12:48122826 [GRCh38]
Chr12:48516609 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro) single nucleotide variant Glycogen storage disease, type VII [RCV001802373] Chr12:48137827 [GRCh38]
Chr12:48531610 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_001354741.2(PFKM):c.-81+1955A>G single nucleotide variant Glycogen storage disease, type VII [RCV001802614] Chr12:48107374 [GRCh38]
Chr12:48501157 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.-9+86A>G single nucleotide variant not provided [RCV001787535] Chr12:48119492 [GRCh38]
Chr12:48513275 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.606A>G (p.Thr202=) single nucleotide variant Glycogen storage disease, type VII [RCV002077268]|not provided [RCV001815740] Chr12:48134244 [GRCh38]
Chr12:48528027 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+1G>T single nucleotide variant Peroxisomal biogenesis disorder 3b [RCV000008219] Chr12:48131394 [GRCh38]
Chr12:48525177 [GRCh37]
Chr17
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1500+29C>T single nucleotide variant Glycogen storage disease, type VII [RCV001802734] Chr12:48141856 [GRCh38]
Chr12:48535639 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.857G>A (p.Arg286His) single nucleotide variant Glycogen storage disease, type VII [RCV001802642] Chr12:48135304 [GRCh38]
Chr12:48529087 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser) single nucleotide variant Glycogen storage disease, type VII [RCV001803477]|Inborn genetic diseases [RCV002544391] Chr12:48144090 [GRCh38]
Chr12:48537873 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1704del (p.Phe568fs) deletion Glycogen storage disease, type VII [RCV001950036] Chr12:48142830 [GRCh38]
Chr12:48536613 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.216C>T (p.Ser72=) single nucleotide variant Glycogen storage disease, type VII [RCV002043091] Chr12:48131372 [GRCh38]
Chr12:48525155 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+1G>C single nucleotide variant Glycogen storage disease, type VII [RCV002002423] Chr12:48131394 [GRCh38]
Chr12:48525177 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.74del (p.Gly25fs) deletion Glycogen storage disease, type VII [RCV001893655] Chr12:48122847 [GRCh38]
Chr12:48516630 [GRCh37]
Chr12:12q13.11
pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12
pathogenic
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001966341] Chr12:48132919 [GRCh38]
Chr12:48526702 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.160-11G>C single nucleotide variant Glycogen storage disease, type VII [RCV002024159] Chr12:48131305 [GRCh38]
Chr12:48525088 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.874del (p.Arg292fs) deletion Glycogen storage disease, type VII [RCV001949263] Chr12:48135319 [GRCh38]
Chr12:48529102 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1062+2T>C single nucleotide variant Glycogen storage disease, type VII [RCV001983899] Chr12:48137848 [GRCh38]
Chr12:48531631 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1761del (p.Ala588fs) deletion Glycogen storage disease, type VII [RCV001926361] Chr12:48142889 [GRCh38]
Chr12:48536672 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.646dup (p.Ala216fs) duplication Glycogen storage disease, type VII [RCV001886569] Chr12:48134726..48134727 [GRCh38]
Chr12:48528509..48528510 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val) single nucleotide variant Glycogen storage disease, type VII [RCV001975344] Chr12:48141927 [GRCh38]
Chr12:48535710 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1191+12T>G single nucleotide variant Glycogen storage disease, type VII [RCV001997458] Chr12:48139924 [GRCh38]
Chr12:48533707 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys) single nucleotide variant Glycogen storage disease, type VII [RCV001941034] Chr12:48142791 [GRCh38]
Chr12:48536574 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met) single nucleotide variant Glycogen storage disease, type VII [RCV001935711] Chr12:48145217 [GRCh38]
Chr12:48539000 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs) deletion Glycogen storage disease, type VII [RCV001950814] Chr12:48145112..48145113 [GRCh38]
Chr12:48538895..48538896 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser) single nucleotide variant Glycogen storage disease, type VII [RCV001952304] Chr12:48133387 [GRCh38]
Chr12:48527170 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg) single nucleotide variant Glycogen storage disease, type VII [RCV001995313] Chr12:48132950 [GRCh38]
Chr12:48526733 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr) single nucleotide variant Glycogen storage disease, type VII [RCV001916594] Chr12:48134995 [GRCh38]
Chr12:48528778 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001906465] Chr12:48140824 [GRCh38]
Chr12:48534607 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1338del (p.Gln447fs) deletion Glycogen storage disease, type VII [RCV001960493] Chr12:48140865 [GRCh38]
Chr12:48534648 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter) single nucleotide variant Glycogen storage disease, type VII [RCV001939132] Chr12:48134818 [GRCh38]
Chr12:48528601 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val) single nucleotide variant Glycogen storage disease, type VII [RCV001931180] Chr12:48145673 [GRCh38]
Chr12:48539456 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys) single nucleotide variant Glycogen storage disease, type VII [RCV001999388] Chr12:48145290 [GRCh38]
Chr12:48539073 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys) single nucleotide variant Glycogen storage disease, type VII [RCV001939825] Chr12:48141953 [GRCh38]
Chr12:48535736 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs) duplication Glycogen storage disease, type VII [RCV001879110] Chr12:48133009..48133010 [GRCh38]
Chr12:48526792..48526793 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs) microsatellite Glycogen storage disease, type VII [RCV001950953] Chr12:48145114..48145115 [GRCh38]
Chr12:48538897..48538898 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile) single nucleotide variant Glycogen storage disease, type VII [RCV001878266] Chr12:48145703 [GRCh38]
Chr12:48539486 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln) single nucleotide variant Glycogen storage disease, type VII [RCV001919134] Chr12:48145213 [GRCh38]
Chr12:48538996 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1653+8C>G single nucleotide variant Glycogen storage disease, type VII [RCV002210360] Chr12:48142074 [GRCh38]
Chr12:48535857 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1017T>C (p.Ser339=) single nucleotide variant Glycogen storage disease, type VII [RCV002165007] Chr12:48137801 [GRCh38]
Chr12:48531584 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1875G>A (p.Val625=) single nucleotide variant Glycogen storage disease, type VII [RCV002105107] Chr12:48143809 [GRCh38]
Chr12:48537592 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1653+10T>C single nucleotide variant Glycogen storage disease, type VII [RCV002128389] Chr12:48142076 [GRCh38]
Chr12:48535859 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=) single nucleotide variant Glycogen storage disease, type VII [RCV002190715] Chr12:48141919 [GRCh38]
Chr12:48535702 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+8G>A single nucleotide variant Glycogen storage disease, type VII [RCV002209509] Chr12:48139357 [GRCh38]
Chr12:48533140 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.993C>G (p.Thr331=) single nucleotide variant Glycogen storage disease, type VII [RCV002128727] Chr12:48137777 [GRCh38]
Chr12:48531560 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.891G>T (p.Gly297=) single nucleotide variant Glycogen storage disease, type VII [RCV002207594] Chr12:48135338 [GRCh38]
Chr12:48529121 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.453G>C (p.Thr151=) single nucleotide variant Glycogen storage disease, type VII [RCV002208138] Chr12:48133340 [GRCh38]
Chr12:48527123 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2236A>C (p.Arg746=) single nucleotide variant Glycogen storage disease, type VII [RCV002189506] Chr12:48145601 [GRCh38]
Chr12:48539384 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1262C>T (p.Ser421Phe) single nucleotide variant not provided [RCV002211219] Chr12:48140792 [GRCh38]
Chr12:48534575 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.238-17T>A single nucleotide variant Glycogen storage disease, type VII [RCV002169811] Chr12:48132851 [GRCh38]
Chr12:48526634 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.627C>A (p.Gly209=) single nucleotide variant Glycogen storage disease, type VII [RCV002186832] Chr12:48134265 [GRCh38]
Chr12:48528048 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1884T>C (p.Asn628=) single nucleotide variant Glycogen storage disease, type VII [RCV002128850] Chr12:48144049 [GRCh38]
Chr12:48537832 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1746C>T (p.Thr582=) single nucleotide variant Glycogen storage disease, type VII [RCV002106867] Chr12:48142874 [GRCh38]
Chr12:48536657 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2093-5T>C single nucleotide variant Glycogen storage disease, type VII [RCV002071262] Chr12:48145205 [GRCh38]
Chr12:48538988 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.546G>A (p.Leu182=) single nucleotide variant Glycogen storage disease, type VII [RCV002164961] Chr12:48133433 [GRCh38]
Chr12:48527216 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.375T>C (p.Ala125=) single nucleotide variant Glycogen storage disease, type VII [RCV002085107] Chr12:48133005 [GRCh38]
Chr12:48526788 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1632A>G (p.Thr544=) single nucleotide variant Glycogen storage disease, type VII [RCV002144880] Chr12:48142045 [GRCh38]
Chr12:48535828 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1023C>T (p.Asn341=) single nucleotide variant Glycogen storage disease, type VII [RCV002185764] Chr12:48137807 [GRCh38]
Chr12:48531590 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.638+20C>T single nucleotide variant Glycogen storage disease, type VII [RCV002145854] Chr12:48134296 [GRCh38]
Chr12:48528079 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1293C>T (p.Asn431=) single nucleotide variant Glycogen storage disease, type VII [RCV002116552] Chr12:48140823 [GRCh38]
Chr12:48534606 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1563A>G (p.Pro521=) single nucleotide variant Glycogen storage disease, type VII [RCV002146438] Chr12:48141976 [GRCh38]
Chr12:48535759 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.171C>A (p.Gly57=) single nucleotide variant Glycogen storage disease, type VII [RCV002173278] Chr12:48131327 [GRCh38]
Chr12:48525110 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.534T>C (p.Thr178=) single nucleotide variant Glycogen storage disease, type VII [RCV002080791] Chr12:48133421 [GRCh38]
Chr12:48527204 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.702A>C (p.Pro234=) single nucleotide variant Glycogen storage disease, type VII [RCV002211673] Chr12:48134784 [GRCh38]
Chr12:48528567 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.354T>C (p.Gly118=) single nucleotide variant Glycogen storage disease, type VII [RCV002193303] Chr12:48132984 [GRCh38]
Chr12:48526767 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2268G>A (p.Glu756=) single nucleotide variant Glycogen storage disease, type VII [RCV002152713] Chr12:48145633 [GRCh38]
Chr12:48539416 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1413-5A>T single nucleotide variant Glycogen storage disease, type VII [RCV002212507] Chr12:48141735 [GRCh38]
Chr12:48535518 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.732T>C (p.Cys244=) single nucleotide variant Glycogen storage disease, type VII [RCV002105155]|not provided [RCV003395389] Chr12:48134814 [GRCh38]
Chr12:48528597 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.844-6C>T single nucleotide variant Glycogen storage disease, type VII [RCV002094217] Chr12:48135285 [GRCh38]
Chr12:48529068 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.593+8G>A single nucleotide variant Glycogen storage disease, type VII [RCV002215827] Chr12:48133488 [GRCh38]
Chr12:48527271 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.428-10T>C single nucleotide variant Glycogen storage disease, type VII [RCV002149959] Chr12:48133305 [GRCh38]
Chr12:48527088 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-18G>A single nucleotide variant Glycogen storage disease, type VII [RCV002197134] Chr12:48139267 [GRCh38]
Chr12:48533050 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1412+9C>T single nucleotide variant Glycogen storage disease, type VII [RCV002093752] Chr12:48141390 [GRCh38]
Chr12:48535173 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.291A>C (p.Gly97=) single nucleotide variant Glycogen storage disease, type VII [RCV002133073] Chr12:48132921 [GRCh38]
Chr12:48526704 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2166A>G (p.Pro722=) single nucleotide variant Glycogen storage disease, type VII [RCV002127546] Chr12:48145283 [GRCh38]
Chr12:48539066 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2325C>T (p.Ser775=) single nucleotide variant Glycogen storage disease, type VII [RCV002195362] Chr12:48145690 [GRCh38]
Chr12:48539473 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1113G>A (p.Leu371=) single nucleotide variant Glycogen storage disease, type VII [RCV002149200] Chr12:48139335 [GRCh38]
Chr12:48533118 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.123T>C (p.Gly41=) single nucleotide variant Glycogen storage disease, type VII [RCV002089771] Chr12:48130400 [GRCh38]
Chr12:48524183 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1149G>A (p.Glu383=) single nucleotide variant Glycogen storage disease, type VII [RCV002191531] Chr12:48139870 [GRCh38]
Chr12:48533653 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2286A>G (p.Ser762=) single nucleotide variant Glycogen storage disease, type VII [RCV002077639] Chr12:48145651 [GRCh38]
Chr12:48539434 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.573C>T (p.Ala191=) single nucleotide variant Glycogen storage disease, type VII [RCV002089920] Chr12:48133460 [GRCh38]
Chr12:48527243 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.844-4T>C single nucleotide variant Glycogen storage disease, type VII [RCV002212999] Chr12:48135287 [GRCh38]
Chr12:48529070 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2334T>A (p.Ala778=) single nucleotide variant Glycogen storage disease, type VII [RCV002114948] Chr12:48145699 [GRCh38]
Chr12:48539482 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.687T>C (p.Phe229=) single nucleotide variant Glycogen storage disease, type VII [RCV002105105] Chr12:48134769 [GRCh38]
Chr12:48528552 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2277G>A (p.Leu759=) single nucleotide variant Glycogen storage disease, type VII [RCV002138928] Chr12:48145642 [GRCh38]
Chr12:48539425 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.238-9C>T single nucleotide variant Glycogen storage disease, type VII [RCV002119436] Chr12:48132859 [GRCh38]
Chr12:48526642 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2092+8G>A single nucleotide variant Glycogen storage disease, type VII [RCV002156181] Chr12:48145138 [GRCh38]
Chr12:48538921 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.987A>G (p.Pro329=) single nucleotide variant Glycogen storage disease, type VII [RCV002179529] Chr12:48137771 [GRCh38]
Chr12:48531554 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1761A>G (p.Ala587=) single nucleotide variant Glycogen storage disease, type VII [RCV002139504] Chr12:48142889 [GRCh38]
Chr12:48536672 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1941G>A (p.Glu647=) single nucleotide variant Glycogen storage disease, type VII [RCV002200509] Chr12:48144106 [GRCh38]
Chr12:48537889 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1626T>C (p.Ala542=) single nucleotide variant Glycogen storage disease, type VII [RCV002102603] Chr12:48142039 [GRCh38]
Chr12:48535822 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.777C>T (p.Ile259=) single nucleotide variant Glycogen storage disease, type VII [RCV002155324] Chr12:48134972 [GRCh38]
Chr12:48528755 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1995T>C (p.Gly665=) single nucleotide variant Glycogen storage disease, type VII [RCV002201528] Chr12:48145033 [GRCh38]
Chr12:48538816 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.747+9A>G single nucleotide variant Glycogen storage disease, type VII [RCV002199920] Chr12:48134838 [GRCh38]
Chr12:48528621 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1653+9C>A single nucleotide variant Glycogen storage disease, type VII [RCV002216833] Chr12:48142075 [GRCh38]
Chr12:48535858 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1029T>A (p.Ala343=) single nucleotide variant Glycogen storage disease, type VII [RCV002143173] Chr12:48137813 [GRCh38]
Chr12:48531596 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.507C>T (p.Phe169=) single nucleotide variant Glycogen storage disease, type VII [RCV002156434] Chr12:48133394 [GRCh38]
Chr12:48527177 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.85+9G>A single nucleotide variant Glycogen storage disease, type VII [RCV002163733] Chr12:48122868 [GRCh38]
Chr12:48516651 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2093-9T>G single nucleotide variant Glycogen storage disease, type VII [RCV002200493] Chr12:48145201 [GRCh38]
Chr12:48538984 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.93T>C (p.Asn31=) single nucleotide variant Glycogen storage disease, type VII [RCV002101106] Chr12:48130370 [GRCh38]
Chr12:48524153 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+10T>C single nucleotide variant Glycogen storage disease, type VII [RCV002164463] Chr12:48135393 [GRCh38]
Chr12:48529176 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2337C>G (p.Ala779=) single nucleotide variant Glycogen storage disease, type VII [RCV002176675] Chr12:48145702 [GRCh38]
Chr12:48539485 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.85+8G>T single nucleotide variant Glycogen storage disease, type VII [RCV002082776] Chr12:48122867 [GRCh38]
Chr12:48516650 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.108T>C (p.Ala36=) single nucleotide variant Glycogen storage disease, type VII [RCV002218148] Chr12:48130385 [GRCh38]
Chr12:48524168 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1413-20C>T single nucleotide variant Glycogen storage disease, type VII [RCV002163064] Chr12:48141720 [GRCh38]
Chr12:48535503 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1128-10C>T single nucleotide variant Glycogen storage disease, type VII [RCV002102122] Chr12:48139839 [GRCh38]
Chr12:48533622 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+13C>T single nucleotide variant Glycogen storage disease, type VII [RCV002135824] Chr12:48139362 [GRCh38]
Chr12:48533145 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-7C>T single nucleotide variant Glycogen storage disease, type VII [RCV002081733] Chr12:48134225 [GRCh38]
Chr12:48528008 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.222G>T (p.Ser74=) single nucleotide variant Glycogen storage disease, type VII [RCV002220860] Chr12:48131378 [GRCh38]
Chr12:48525161 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.666C>T (p.Ser222=) single nucleotide variant Glycogen storage disease, type VII [RCV002098885] Chr12:48134748 [GRCh38]
Chr12:48528531 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1599C>T (p.Val533=) single nucleotide variant Glycogen storage disease, type VII [RCV002179828] Chr12:48142012 [GRCh38]
Chr12:48535795 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1192-16G>A single nucleotide variant Glycogen storage disease, type VII [RCV002101439] Chr12:48140706 [GRCh38]
Chr12:48534489 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1455A>C (p.Ile485=) single nucleotide variant Glycogen storage disease, type VII [RCV002201620] Chr12:48141782 [GRCh38]
Chr12:48535565 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.384C>T (p.Phe128=) single nucleotide variant Glycogen storage disease, type VII [RCV002221007] Chr12:48133014 [GRCh38]
Chr12:48526797 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.393G>A (p.Glu131=) single nucleotide variant Glycogen storage disease, type VII [RCV002139815] Chr12:48133023 [GRCh38]
Chr12:48526806 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2217A>G (p.Glu739=) single nucleotide variant Glycogen storage disease, type VII [RCV002219407] Chr12:48145582 [GRCh38]
Chr12:48539365 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.903G>A (p.Arg301=) single nucleotide variant Glycogen storage disease, type VII [RCV002179804] Chr12:48135350 [GRCh38]
Chr12:48529133 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.186A>C (p.Gly62=) single nucleotide variant Glycogen storage disease, type VII [RCV002141289] Chr12:48131342 [GRCh38]
Chr12:48525125 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1158G>A (p.Lys386=) single nucleotide variant Glycogen storage disease, type VII [RCV002099262] Chr12:48139879 [GRCh38]
Chr12:48533662 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+46C>T single nucleotide variant not provided [RCV002221737]   likely benign
NM_000289.6(PFKM):c.748-4C>T single nucleotide variant Glycogen storage disease, type VII [RCV002162989] Chr12:48134939 [GRCh38]
Chr12:48528722 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.438A>T (p.Thr146=) single nucleotide variant Glycogen storage disease, type VII [RCV002201008] Chr12:48133325 [GRCh38]
Chr12:48527108 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.735C>T (p.Arg245=) single nucleotide variant Glycogen storage disease, type VII [RCV002219968] Chr12:48134817 [GRCh38]
Chr12:48528600 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.276T>C (p.Phe92=) single nucleotide variant Glycogen storage disease, type VII [RCV002119252] Chr12:48132906 [GRCh38]
Chr12:48526689 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2019G>A (p.Arg673=) single nucleotide variant Glycogen storage disease, type VII [RCV002142761] Chr12:48145057 [GRCh38]
Chr12:48538840 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1656del (p.Cys553fs) deletion Glycogen storage disease, type VII [RCV003112259] Chr12:48142783 [GRCh38]
Chr12:48536566 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1412+1G>T single nucleotide variant Glycogen storage disease, type VII [RCV003115091] Chr12:48141382 [GRCh38]
Chr12:48535165 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_001354741.2(PFKM):c.-81+1966C>T single nucleotide variant Glycogen storage disease, type VII [RCV003120349] Chr12:48107385 [GRCh38]
Chr12:48501168 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1060G>A (p.Val354Met) single nucleotide variant Glycogen storage disease, type VII [RCV003095914]|not provided [RCV002261936] Chr12:48137844 [GRCh38]
Chr12:48531627 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2314C>T (p.Arg772Trp) single nucleotide variant not provided [RCV002261939] Chr12:48145679 [GRCh38]
Chr12:48539462 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1063-10C>G single nucleotide variant not provided [RCV002261937] Chr12:48139275 [GRCh38]
Chr12:48533058 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys) single nucleotide variant not specified [RCV002266263] Chr12:48134815 [GRCh38]
Chr12:48528598 [GRCh37]
Chr12:12q13.11
uncertain significance
GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1 copy number loss not provided [RCV002291537] Chr12:44661149..48921204 [GRCh37]
Chr12:12q12-13.11
pathogenic
NM_000289.6(PFKM):c.1124G>T (p.Gly375Val) single nucleotide variant not provided [RCV002261938] Chr12:48139346 [GRCh38]
Chr12:48533129 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val) single nucleotide variant Glycogen storage disease, type VII [RCV002297289] Chr12:48140756 [GRCh38]
Chr12:48534539 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1192-6G>C single nucleotide variant Glycogen storage disease, type VII [RCV002613529] Chr12:48140716 [GRCh38]
Chr12:48534499 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs) microsatellite Glycogen storage disease, type VII [RCV002309596] Chr12:48143791..48143792 [GRCh38]
Chr12:48537574..48537575 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002309600] Chr12:48141786 [GRCh38]
Chr12:48535569 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002309642] Chr12:48141327 [GRCh38]
Chr12:48535110 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002309296] Chr12:48140851 [GRCh38]
Chr12:48534634 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs) deletion Glycogen storage disease, type VII [RCV002309911] Chr12:48143810..48143811 [GRCh38]
Chr12:48537593..48537594 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1721del (p.Gly574fs) deletion Glycogen storage disease, type VII [RCV002310255] Chr12:48142847 [GRCh38]
Chr12:48536630 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.399_400del (p.Ser133fs) deletion Glycogen storage disease, type VII [RCV002310104] Chr12:48133028..48133029 [GRCh38]
Chr12:48526811..48526812 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs) indel Glycogen storage disease, type VII [RCV002308039] Chr12:48131360..48131363 [GRCh38]
Chr12:48525143..48525146 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002308102] Chr12:48140729 [GRCh38]
Chr12:48534512 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs) deletion Glycogen storage disease, type VII [RCV002310032] Chr12:48140754..48140755 [GRCh38]
Chr12:48534537..48534538 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.582del (p.Thr195fs) deletion Glycogen storage disease, type VII [RCV002308427] Chr12:48133468 [GRCh38]
Chr12:48527251 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs) insertion Glycogen storage disease, type VII [RCV002306838] Chr12:48141354..48141355 [GRCh38]
Chr12:48535137..48535138 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp) single nucleotide variant Glycogen storage disease, type VII [RCV002301686] Chr12:48133004 [GRCh38]
Chr12:48526787 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002306819] Chr12:48135314 [GRCh38]
Chr12:48529097 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.512G>T (p.Gly171Val) single nucleotide variant Glycogen storage disease, type VII [RCV002301476] Chr12:48133399 [GRCh38]
Chr12:48527182 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1493del (p.Gly498fs) deletion Glycogen storage disease, type VII [RCV002306892] Chr12:48141816 [GRCh38]
Chr12:48535599 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.631dup (p.His211fs) duplication Glycogen storage disease, type VII [RCV002307130] Chr12:48134267..48134268 [GRCh38]
Chr12:48528050..48528051 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002306908] Chr12:48139866 [GRCh38]
Chr12:48533649 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.465_466del (p.Leu156fs) deletion Glycogen storage disease, type VII [RCV002309443] Chr12:48133352..48133353 [GRCh38]
Chr12:48527135..48527136 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.31dup (p.Thr11fs) duplication Glycogen storage disease, type VII [RCV002309247] Chr12:48122801..48122802 [GRCh38]
Chr12:48516584..48516585 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs) deletion Glycogen storage disease, type VII [RCV002307890] Chr12:48142862..48142863 [GRCh38]
Chr12:48536645..48536646 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.851_852del (p.Val284fs) deletion Glycogen storage disease, type VII [RCV002309499] Chr12:48135298..48135299 [GRCh38]
Chr12:48529081..48529082 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002310548] Chr12:48144070 [GRCh38]
Chr12:48537853 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002310337] Chr12:48131340 [GRCh38]
Chr12:48525123 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.638+4A>G single nucleotide variant Glycogen storage disease, type VII [RCV002967988] Chr12:48134280 [GRCh38]
Chr12:48528063 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2042C>T (p.Ala681Val) single nucleotide variant Inborn genetic diseases [RCV002905374] Chr12:48145080 [GRCh38]
Chr12:48538863 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1880+19G>C single nucleotide variant Glycogen storage disease, type VII [RCV002971364] Chr12:48143833 [GRCh38]
Chr12:48537616 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1413-19G>A single nucleotide variant Glycogen storage disease, type VII [RCV002970600] Chr12:48141721 [GRCh38]
Chr12:48535504 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1053del (p.Cys351fs) deletion Glycogen storage disease, type VII [RCV002862007] Chr12:48137837 [GRCh38]
Chr12:48531620 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1896T>C (p.Asn632=) single nucleotide variant Glycogen storage disease, type VII [RCV003013898] Chr12:48144061 [GRCh38]
Chr12:48537844 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.852T>G (p.Val284=) single nucleotide variant Glycogen storage disease, type VII [RCV002862880] Chr12:48135299 [GRCh38]
Chr12:48529082 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.957A>G (p.Glu319=) single nucleotide variant Glycogen storage disease, type VII [RCV002863586] Chr12:48137741 [GRCh38]
Chr12:48531524 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1034G>A (p.Arg345His) single nucleotide variant Glycogen storage disease, type VII [RCV003076139]|not provided [RCV003325616] Chr12:48137818 [GRCh38]
Chr12:48531601 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1989G>A (p.Gln663=) single nucleotide variant Glycogen storage disease, type VII [RCV002755477] Chr12:48144154 [GRCh38]
Chr12:48537937 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu) single nucleotide variant Glycogen storage disease, type VII [RCV002947555] Chr12:48140729 [GRCh38]
Chr12:48534512 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln) single nucleotide variant Glycogen storage disease, type VII [RCV002726752] Chr12:48132923 [GRCh38]
Chr12:48526706 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1266T>C (p.Thr422=) single nucleotide variant Glycogen storage disease, type VII [RCV002947577] Chr12:48140796 [GRCh38]
Chr12:48534579 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1342-15G>A single nucleotide variant Glycogen storage disease, type VII [RCV002750166] Chr12:48141296 [GRCh38]
Chr12:48535079 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.548A>G (p.His183Arg) single nucleotide variant Inborn genetic diseases [RCV002860227] Chr12:48133435 [GRCh38]
Chr12:48527218 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.150T>C (p.Phe50=) single nucleotide variant Glycogen storage disease, type VII [RCV002843084] Chr12:48130427 [GRCh38]
Chr12:48524210 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.639-8C>T single nucleotide variant Glycogen storage disease, type VII [RCV003034693] Chr12:48134713 [GRCh38]
Chr12:48528496 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1938G>A (p.Glu646=) single nucleotide variant Glycogen storage disease, type VII [RCV003076721] Chr12:48144103 [GRCh38]
Chr12:48537886 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg) single nucleotide variant Glycogen storage disease, type VII [RCV002967721] Chr12:48141766 [GRCh38]
Chr12:48535549 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.427+9G>A single nucleotide variant Glycogen storage disease, type VII [RCV002863865] Chr12:48133066 [GRCh38]
Chr12:48526849 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2092+20G>A single nucleotide variant Glycogen storage disease, type VII [RCV002993739] Chr12:48145150 [GRCh38]
Chr12:48538933 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1062+8C>T single nucleotide variant Glycogen storage disease, type VII [RCV002726904] Chr12:48137854 [GRCh38]
Chr12:48531637 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2184C>T (p.Asp728=) single nucleotide variant Glycogen storage disease, type VII [RCV002995163] Chr12:48145301 [GRCh38]
Chr12:48539084 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.114T>C (p.Val38=) single nucleotide variant Glycogen storage disease, type VII [RCV002771070] Chr12:48130391 [GRCh38]
Chr12:48524174 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.531C>A (p.Gly177=) single nucleotide variant Glycogen storage disease, type VII [RCV003034201] Chr12:48133418 [GRCh38]
Chr12:48527201 [GRCh37]
Chr12:12q13.11
likely benign
GRCh37/hg19 12q13.11(chr12:48380031-48542853)x3 copy number gain not provided [RCV002475846] Chr12:48380031..48542853 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser) single nucleotide variant Glycogen storage disease, type VII [RCV003073782] Chr12:48130410 [GRCh38]
Chr12:48524193 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser) single nucleotide variant Glycogen storage disease, type VII [RCV002970805] Chr12:48135319 [GRCh38]
Chr12:48529102 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2271T>C (p.Ile757=) single nucleotide variant Glycogen storage disease, type VII [RCV003076097] Chr12:48145636 [GRCh38]
Chr12:48539419 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.867T>C (p.Tyr289=) single nucleotide variant Glycogen storage disease, type VII [RCV003034989] Chr12:48135314 [GRCh38]
Chr12:48529097 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.21dup (p.Ala8fs) duplication Glycogen storage disease, type VII [RCV002816338] Chr12:48122794..48122795 [GRCh38]
Chr12:48516577..48516578 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1725C>T (p.Gly575=) single nucleotide variant Glycogen storage disease, type VII [RCV003033818] Chr12:48142853 [GRCh38]
Chr12:48536636 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1880+12A>G single nucleotide variant Glycogen storage disease, type VII [RCV002623189] Chr12:48143826 [GRCh38]
Chr12:48537609 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu) single nucleotide variant Glycogen storage disease, type VII [RCV002662901] Chr12:48131345 [GRCh38]
Chr12:48525128 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2220G>A (p.Gln740=) single nucleotide variant Glycogen storage disease, type VII [RCV002637924] Chr12:48145585 [GRCh38]
Chr12:48539368 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+9C>T single nucleotide variant Glycogen storage disease, type VII [RCV002780707] Chr12:48135392 [GRCh38]
Chr12:48529175 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.594-11A>G single nucleotide variant Glycogen storage disease, type VII [RCV003080644] Chr12:48134221 [GRCh38]
Chr12:48528004 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.160-18G>A single nucleotide variant Glycogen storage disease, type VII [RCV002691158] Chr12:48131298 [GRCh38]
Chr12:48525081 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn) single nucleotide variant Glycogen storage disease, type VII [RCV002912823] Chr12:48134794 [GRCh38]
Chr12:48528577 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1127+14G>A single nucleotide variant Glycogen storage disease, type VII [RCV002948339] Chr12:48139363 [GRCh38]
Chr12:48533146 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp) single nucleotide variant Glycogen storage disease, type VII [RCV002949654] Chr12:48130363 [GRCh38]
Chr12:48524146 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.237+8C>T single nucleotide variant Glycogen storage disease, type VII [RCV002705700] Chr12:48131401 [GRCh38]
Chr12:48525184 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1880+3A>G single nucleotide variant Glycogen storage disease, type VII [RCV002695872] Chr12:48143817 [GRCh38]
Chr12:48537600 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1036C>T (p.Leu346=) single nucleotide variant Glycogen storage disease, type VII [RCV003039177] Chr12:48137820 [GRCh38]
Chr12:48531603 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys) single nucleotide variant Glycogen storage disease, type VII [RCV003078560] Chr12:48134952 [GRCh38]
Chr12:48528735 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.799A>G (p.Ile267Val) single nucleotide variant Glycogen storage disease, type VII [RCV003078416] Chr12:48134994 [GRCh38]
Chr12:48528777 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.996A>G (p.Pro332=) single nucleotide variant Glycogen storage disease, type VII [RCV003080101] Chr12:48137780 [GRCh38]
Chr12:48531563 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1902C>T (p.Asn634=) single nucleotide variant Glycogen storage disease, type VII [RCV002846714] Chr12:48144067 [GRCh38]
Chr12:48537850 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val) single nucleotide variant Glycogen storage disease, type VII [RCV002949627]|Inborn genetic diseases [RCV002967286] Chr12:48142870 [GRCh38]
Chr12:48536653 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1341+1G>C single nucleotide variant Glycogen storage disease, type VII [RCV002949644] Chr12:48140872 [GRCh38]
Chr12:48534655 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1992+14C>A single nucleotide variant Glycogen storage disease, type VII [RCV002948353] Chr12:48144171 [GRCh38]
Chr12:48537954 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp) single nucleotide variant Glycogen storage disease, type VII [RCV003078273] Chr12:48137812 [GRCh38]
Chr12:48531595 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.428-9C>T single nucleotide variant Glycogen storage disease, type VII [RCV002619701] Chr12:48133306 [GRCh38]
Chr12:48527089 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp) single nucleotide variant Glycogen storage disease, type VII [RCV002949099] Chr12:48145091 [GRCh38]
Chr12:48538874 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln) single nucleotide variant Glycogen storage disease, type VII [RCV003078074] Chr12:48133438 [GRCh38]
Chr12:48527221 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.873C>A (p.Thr291=) single nucleotide variant Glycogen storage disease, type VII [RCV003019435] Chr12:48135320 [GRCh38]
Chr12:48529103 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2093-6T>C single nucleotide variant Glycogen storage disease, type VII [RCV002706216] Chr12:48145204 [GRCh38]
Chr12:48538987 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr) single nucleotide variant Glycogen storage disease, type VII [RCV002736826] Chr12:48144090 [GRCh38]
Chr12:48537873 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1191+3A>G single nucleotide variant Glycogen storage disease, type VII [RCV002870869] Chr12:48139915 [GRCh38]
Chr12:48533698 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1908C>G (p.Thr636=) single nucleotide variant Glycogen storage disease, type VII [RCV002889194] Chr12:48144073 [GRCh38]
Chr12:48537856 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met) single nucleotide variant Glycogen storage disease, type VII [RCV003020218] Chr12:48145618 [GRCh38]
Chr12:48539401 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1501-8C>T single nucleotide variant Glycogen storage disease, type VII [RCV002797172] Chr12:48141906 [GRCh38]
Chr12:48535689 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.720G>A (p.Glu240=) single nucleotide variant Glycogen storage disease, type VII [RCV003017876] Chr12:48134802 [GRCh38]
Chr12:48528585 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1035C>T (p.Arg345=) single nucleotide variant Glycogen storage disease, type VII [RCV003079782] Chr12:48137819 [GRCh38]
Chr12:48531602 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002844028] Chr12:48137841 [GRCh38]
Chr12:48531624 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1128-18T>C single nucleotide variant Glycogen storage disease, type VII [RCV003054848] Chr12:48139831 [GRCh38]
Chr12:48533614 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile) single nucleotide variant Glycogen storage disease, type VII [RCV003078207] Chr12:48145677 [GRCh38]
Chr12:48539460 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1192-10T>C single nucleotide variant Glycogen storage disease, type VII [RCV002691077] Chr12:48140712 [GRCh38]
Chr12:48534495 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr) single nucleotide variant Glycogen storage disease, type VII [RCV002636870] Chr12:48133318 [GRCh38]
Chr12:48527101 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1062+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV003077821] Chr12:48137847 [GRCh38]
Chr12:48531630 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys) single nucleotide variant Glycogen storage disease, type VII [RCV003078760] Chr12:48133015 [GRCh38]
Chr12:48526798 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2001C>T (p.Ser667=) single nucleotide variant Glycogen storage disease, type VII [RCV002662553] Chr12:48145039 [GRCh38]
Chr12:48538822 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-19G>A single nucleotide variant Glycogen storage disease, type VII [RCV002700700] Chr12:48137702 [GRCh38]
Chr12:48531485 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1819-9C>G single nucleotide variant Glycogen storage disease, type VII [RCV003083110] Chr12:48143744 [GRCh38]
Chr12:48537527 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1619T>C (p.Val540Ala) single nucleotide variant Inborn genetic diseases [RCV002742444] Chr12:48142032 [GRCh38]
Chr12:48535815 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr) single nucleotide variant Glycogen storage disease, type VII [RCV002932461] Chr12:48145079 [GRCh38]
Chr12:48538862 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1654-5T>C single nucleotide variant Glycogen storage disease, type VII [RCV002667854] Chr12:48142777 [GRCh38]
Chr12:48536560 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG insertion Glycogen storage disease, type VII [RCV003085830] Chr12:48131394..48131395 [GRCh38]
Chr12:48525177..48525178 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1314T>C (p.Asp438=) single nucleotide variant Glycogen storage disease, type VII [RCV002918025] Chr12:48140844 [GRCh38]
Chr12:48534627 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.428-7T>C single nucleotide variant Glycogen storage disease, type VII [RCV002851260] Chr12:48133308 [GRCh38]
Chr12:48527091 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.926A>T (p.Asp309Val) single nucleotide variant Glycogen storage disease, type VII [RCV003057414] Chr12:48135373 [GRCh38]
Chr12:48529156 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1992+20C>T single nucleotide variant Glycogen storage disease, type VII [RCV003081942] Chr12:48144177 [GRCh38]
Chr12:48537960 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1557C>T (p.Cys519=) single nucleotide variant Glycogen storage disease, type VII [RCV002700300] Chr12:48141970 [GRCh38]
Chr12:48535753 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.18C>T (p.His6=) single nucleotide variant Glycogen storage disease, type VII [RCV002872261] Chr12:48122792 [GRCh38]
Chr12:48516575 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn) single nucleotide variant Glycogen storage disease, type VII [RCV003084277] Chr12:48145652 [GRCh38]
Chr12:48539435 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1122A>G (p.Arg374=) single nucleotide variant Glycogen storage disease, type VII [RCV002802077] Chr12:48139344 [GRCh38]
Chr12:48533127 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.86-5T>C single nucleotide variant Glycogen storage disease, type VII [RCV002853376] Chr12:48130358 [GRCh38]
Chr12:48524141 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+6G>T single nucleotide variant Glycogen storage disease, type VII [RCV002982426] Chr12:48139355 [GRCh38]
Chr12:48533138 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.321G>A (p.Lys107=) single nucleotide variant Glycogen storage disease, type VII [RCV002853408] Chr12:48132951 [GRCh38]
Chr12:48526734 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+19G>T single nucleotide variant Glycogen storage disease, type VII [RCV003084582] Chr12:48139368 [GRCh38]
Chr12:48533151 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.417C>A (p.Leu139=) single nucleotide variant Glycogen storage disease, type VII [RCV003056587] Chr12:48133047 [GRCh38]
Chr12:48526830 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1501-5C>A single nucleotide variant Glycogen storage disease, type VII [RCV002871868] Chr12:48141909 [GRCh38]
Chr12:48535692 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys) single nucleotide variant Glycogen storage disease, type VII [RCV002957701] Chr12:48134266 [GRCh38]
Chr12:48528049 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs) deletion Glycogen storage disease, type VII [RCV002871950] Chr12:48143762..48143768 [GRCh38]
Chr12:48537545..48537551 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu) single nucleotide variant Glycogen storage disease, type VII [RCV002740946] Chr12:48122812 [GRCh38]
Chr12:48516595 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg) single nucleotide variant Glycogen storage disease, type VII [RCV003056815] Chr12:48145691 [GRCh38]
Chr12:48539474 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.936+10_936+28del deletion Glycogen storage disease, type VII [RCV002575667] Chr12:48135393..48135411 [GRCh38]
Chr12:48529176..48529194 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1383C>T (p.Gly461=) single nucleotide variant Glycogen storage disease, type VII [RCV002871668] Chr12:48141352 [GRCh38]
Chr12:48535135 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln) single nucleotide variant Glycogen storage disease, type VII [RCV003085006] Chr12:48142936 [GRCh38]
Chr12:48536719 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys) single nucleotide variant Glycogen storage disease, type VII [RCV003091766] Chr12:48134961 [GRCh38]
Chr12:48528744 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala) single nucleotide variant Glycogen storage disease, type VII [RCV003047293] Chr12:48143760 [GRCh38]
Chr12:48537543 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.954G>A (p.Val318=) single nucleotide variant Glycogen storage disease, type VII [RCV003066011] Chr12:48137738 [GRCh38]
Chr12:48531521 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1002T>C (p.Cys334=) single nucleotide variant Glycogen storage disease, type VII [RCV002720061] Chr12:48137786 [GRCh38]
Chr12:48531569 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn) single nucleotide variant Glycogen storage disease, type VII [RCV003090321] Chr12:48139286 [GRCh38]
Chr12:48533069 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1992+14C>T single nucleotide variant Glycogen storage disease, type VII [RCV003065155] Chr12:48144171 [GRCh38]
Chr12:48537954 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val) single nucleotide variant Glycogen storage disease, type VII [RCV002651312] Chr12:48144083 [GRCh38]
Chr12:48537866 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.262C>A (p.Arg88=) single nucleotide variant Glycogen storage disease, type VII [RCV002632307] Chr12:48132892 [GRCh38]
Chr12:48526675 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2199-5T>C single nucleotide variant Glycogen storage disease, type VII [RCV003047870] Chr12:48145559 [GRCh38]
Chr12:48539342 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys) single nucleotide variant Glycogen storage disease, type VII [RCV003091613] Chr12:48145124 [GRCh38]
Chr12:48538907 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.147C>T (p.Phe49=) single nucleotide variant Glycogen storage disease, type VII [RCV002580692] Chr12:48130424 [GRCh38]
Chr12:48524207 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1993-16_1993-15del deletion Glycogen storage disease, type VII [RCV003063475] Chr12:48145014..48145015 [GRCh38]
Chr12:48538797..48538798 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser) single nucleotide variant Glycogen storage disease, type VII [RCV003061060]|Inborn genetic diseases [RCV003061061] Chr12:48139898 [GRCh38]
Chr12:48533681 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.594-20C>T single nucleotide variant Glycogen storage disease, type VII [RCV003089585] Chr12:48134212 [GRCh38]
Chr12:48527995 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp) single nucleotide variant Glycogen storage disease, type VII [RCV002648067]|Inborn genetic diseases [RCV002630018]|not provided [RCV003128883] Chr12:48135321 [GRCh38]
Chr12:48529104 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1063-5del deletion Glycogen storage disease, type VII [RCV002988480] Chr12:48139275 [GRCh38]
Chr12:48533058 [GRCh37]
Chr12:12q13.11
benign
NM_000289.6(PFKM):c.1192-2A>G single nucleotide variant Glycogen storage disease, type VII [RCV002857659] Chr12:48140720 [GRCh38]
Chr12:48534503 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.783T>A (p.Ile261=) single nucleotide variant Glycogen storage disease, type VII [RCV002834620] Chr12:48134978 [GRCh38]
Chr12:48528761 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1452T>C (p.Asn484=) single nucleotide variant Glycogen storage disease, type VII [RCV002895627] Chr12:48141779 [GRCh38]
Chr12:48535562 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.657C>T (p.Thr219=) single nucleotide variant Glycogen storage disease, type VII [RCV002899248] Chr12:48134739 [GRCh38]
Chr12:48528522 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.936+2T>G single nucleotide variant Glycogen storage disease, type VII [RCV003045184] Chr12:48135385 [GRCh38]
Chr12:48529168 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1880+5C>G single nucleotide variant Glycogen storage disease, type VII [RCV002647716] Chr12:48143819 [GRCh38]
Chr12:48537602 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp) single nucleotide variant Glycogen storage disease, type VII [RCV002895539]|Inborn genetic diseases [RCV002895538] Chr12:48131369 [GRCh38]
Chr12:48525152 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln) single nucleotide variant Glycogen storage disease, type VII [RCV003062509] Chr12:48130393 [GRCh38]
Chr12:48524176 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.444G>C (p.Glu148Asp) single nucleotide variant Inborn genetic diseases [RCV002717628] Chr12:48133331 [GRCh38]
Chr12:48527114 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu) single nucleotide variant Glycogen storage disease, type VII [RCV002650176] Chr12:48137844 [GRCh38]
Chr12:48531627 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2244C>A (p.Ile748=) single nucleotide variant Glycogen storage disease, type VII [RCV003030416] Chr12:48145609 [GRCh38]
Chr12:48539392 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1596T>C (p.Asn532=) single nucleotide variant Glycogen storage disease, type VII [RCV002627551] Chr12:48142009 [GRCh38]
Chr12:48535792 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2234dup (p.Arg746fs) duplication Glycogen storage disease, type VII [RCV002856765] Chr12:48145598..48145599 [GRCh38]
Chr12:48539381..48539382 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.972T>A (p.Leu324=) single nucleotide variant Glycogen storage disease, type VII [RCV002646956] Chr12:48137756 [GRCh38]
Chr12:48531539 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=) single nucleotide variant Glycogen storage disease, type VII [RCV002810125] Chr12:48144070 [GRCh38]
Chr12:48537853 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.710A>G (p.Asp237Gly) single nucleotide variant Inborn genetic diseases [RCV002714653] Chr12:48134792 [GRCh38]
Chr12:48528575 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.160-13A>C single nucleotide variant Glycogen storage disease, type VII [RCV003061961] Chr12:48131303 [GRCh38]
Chr12:48525086 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu) single nucleotide variant Glycogen storage disease, type VII [RCV003111717]|Inborn genetic diseases [RCV002920744]|not provided [RCV003328721] Chr12:48145692 [GRCh38]
Chr12:48539475 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe) single nucleotide variant Glycogen storage disease, type VII [RCV002962182] Chr12:48141768 [GRCh38]
Chr12:48535551 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser) single nucleotide variant Glycogen storage disease, type VII [RCV002600684] Chr12:48141978 [GRCh38]
Chr12:48535761 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2307C>T (p.His769=) single nucleotide variant Glycogen storage disease, type VII [RCV002680975] Chr12:48145672 [GRCh38]
Chr12:48539455 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-10C>T single nucleotide variant Glycogen storage disease, type VII [RCV003069869] Chr12:48139275 [GRCh38]
Chr12:48533058 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln) single nucleotide variant Glycogen storage disease, type VII [RCV003050135] Chr12:48145115 [GRCh38]
Chr12:48538898 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala) single nucleotide variant Glycogen storage disease, type VII [RCV003051059] Chr12:48140738 [GRCh38]
Chr12:48534521 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu) single nucleotide variant Glycogen storage disease, type VII [RCV002634058] Chr12:48137779 [GRCh38]
Chr12:48531562 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln) single nucleotide variant Glycogen storage disease, type VII [RCV003052613] Chr12:48145680 [GRCh38]
Chr12:48539463 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val) single nucleotide variant Glycogen storage disease, type VII [RCV002605240] Chr12:48141780 [GRCh38]
Chr12:48535563 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn) single nucleotide variant Glycogen storage disease, type VII [RCV002633708] Chr12:48142899 [GRCh38]
Chr12:48536682 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.290del (p.Gly97fs) deletion Glycogen storage disease, type VII [RCV003049510] Chr12:48132919 [GRCh38]
Chr12:48526702 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.492A>C (p.Ser164=) single nucleotide variant Glycogen storage disease, type VII [RCV003049732] Chr12:48133379 [GRCh38]
Chr12:48527162 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile) single nucleotide variant Glycogen storage disease, type VII [RCV003069238] Chr12:48142031 [GRCh38]
Chr12:48535814 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.594-14T>A single nucleotide variant Glycogen storage disease, type VII [RCV002607724] Chr12:48134218 [GRCh38]
Chr12:48528001 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1127+19G>A single nucleotide variant Glycogen storage disease, type VII [RCV002587971] Chr12:48139368 [GRCh38]
Chr12:48533151 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys) single nucleotide variant Glycogen storage disease, type VII [RCV002942771] Chr12:48145631 [GRCh38]
Chr12:48539414 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter) single nucleotide variant Glycogen storage disease, type VII [RCV002633476] Chr12:48142935 [GRCh38]
Chr12:48536718 [GRCh37]
Chr12:12q13.11
pathogenic|likely pathogenic
NM_000289.6(PFKM):c.2169G>A (p.Val723=) single nucleotide variant Glycogen storage disease, type VII [RCV002585550] Chr12:48145286 [GRCh38]
Chr12:48539069 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2070A>G (p.Lys690=) single nucleotide variant Glycogen storage disease, type VII [RCV002635276] Chr12:48145108 [GRCh38]
Chr12:48538891 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.883G>A (p.Val295Ile) single nucleotide variant Glycogen storage disease, type VII [RCV002606634] Chr12:48135330 [GRCh38]
Chr12:48529113 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu) single nucleotide variant Glycogen storage disease, type VII [RCV002612277] Chr12:48135304 [GRCh38]
Chr12:48529087 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.438A>G (p.Thr146=) single nucleotide variant Glycogen storage disease, type VII [RCV003070838] Chr12:48133325 [GRCh38]
Chr12:48527108 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser) single nucleotide variant Glycogen storage disease, type VII [RCV003093612] Chr12:48141778 [GRCh38]
Chr12:48535561 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.160-13A>G single nucleotide variant Glycogen storage disease, type VII [RCV002610615] Chr12:48131303 [GRCh38]
Chr12:48525086 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn) single nucleotide variant Glycogen storage disease, type VII [RCV002612571] Chr12:48140723 [GRCh38]
Chr12:48534506 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.843+20G>A single nucleotide variant Glycogen storage disease, type VII [RCV002612577] Chr12:48135058 [GRCh38]
Chr12:48528841 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1377G>C (p.Trp459Cys) single nucleotide variant Inborn genetic diseases [RCV003205134] Chr12:48141346 [GRCh38]
Chr12:48535129 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.238-3A>G single nucleotide variant Glycogen storage disease, type VII [RCV003134804] Chr12:48132865 [GRCh38]
Chr12:48526648 [GRCh37]
Chr12:12q13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000289.6(PFKM):c.558G>A (p.Met186Ile) single nucleotide variant Glycogen storage disease, type VII [RCV003134806] Chr12:48133445 [GRCh38]
Chr12:48527228 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu) single nucleotide variant Glycogen storage disease, type VII [RCV003134807] Chr12:48145237 [GRCh38]
Chr12:48539020 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.962T>C (p.Val321Ala) single nucleotide variant Glycogen storage disease, type VII [RCV003134808] Chr12:48137746 [GRCh38]
Chr12:48531529 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1654-54_1654-46del deletion Glycogen storage disease, type VII [RCV003134803] Chr12:48142727..48142735 [GRCh38]
Chr12:48536510..48536518 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.2093-33G>C single nucleotide variant Glycogen storage disease, type VII [RCV003134805] Chr12:48145177 [GRCh38]
Chr12:48538960 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1783A>G (p.Ile595Val) single nucleotide variant Inborn genetic diseases [RCV003199559] Chr12:48142911 [GRCh38]
Chr12:48536694 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.376G>A (p.Asp126Asn) single nucleotide variant Inborn genetic diseases [RCV003218451] Chr12:48133006 [GRCh38]
Chr12:48526789 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_001166686.2(PFKM):c.206-4289C>T single nucleotide variant not provided [RCV003326856] Chr12:48118478 [GRCh38]
Chr12:48512261 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1592A>G (p.Asn531Ser) single nucleotide variant Inborn genetic diseases [RCV003370131] Chr12:48142005 [GRCh38]
Chr12:48535788 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1807C>A (p.Arg603=) single nucleotide variant Glycogen storage disease, type VII [RCV003873117] Chr12:48142935 [GRCh38]
Chr12:48536718 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys) single nucleotide variant Glycogen storage disease, type VII [RCV003455833] Chr12:48142839 [GRCh38]
Chr12:48536622 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1341+1G>A single nucleotide variant Glycogen storage disease, type VII [RCV003476871] Chr12:48140872 [GRCh38]
Chr12:48534655 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs) indel Glycogen storage disease, type VII [RCV003476876] Chr12:48142033..48142038 [GRCh38]
Chr12:48535816..48535821 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.160-1G>C single nucleotide variant Glycogen storage disease, type VII [RCV003472431] Chr12:48131315 [GRCh38]
Chr12:48525098 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.877dup (p.Val293fs) duplication Glycogen storage disease, type VII [RCV003472430] Chr12:48135321..48135322 [GRCh38]
Chr12:48529104..48529105 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1500+2T>A single nucleotide variant Glycogen storage disease, type VII [RCV003472437] Chr12:48141829 [GRCh38]
Chr12:48535612 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs) deletion Glycogen storage disease, type VII [RCV003472429] Chr12:48140809..48140819 [GRCh38]
Chr12:48534592..48534602 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.259G>A (p.Ala87Thr) single nucleotide variant not provided [RCV003482060] Chr12:48132889 [GRCh38]
Chr12:48526672 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.1286A>G (p.Gln429Arg) single nucleotide variant not provided [RCV003482062] Chr12:48140816 [GRCh38]
Chr12:48534599 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys) single nucleotide variant Glycogen storage disease, type VII [RCV003472436] Chr12:48133426 [GRCh38]
Chr12:48527209 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.702dup (p.Pro235fs) duplication Glycogen storage disease, type VII [RCV003472434] Chr12:48134783..48134784 [GRCh38]
Chr12:48528566..48528567 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter) single nucleotide variant Glycogen storage disease, type VII [RCV003472435] Chr12:48135006 [GRCh38]
Chr12:48528789 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs) deletion Glycogen storage disease, type VII [RCV003472428] Chr12:48142844..48142845 [GRCh38]
Chr12:48536627..48536628 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.86-1G>C single nucleotide variant Glycogen storage disease, type VII [RCV003476869] Chr12:48130362 [GRCh38]
Chr12:48524145 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.491_500del (p.Ser164fs) deletion Glycogen storage disease, type VII [RCV003476872] Chr12:48133378..48133387 [GRCh38]
Chr12:48527161..48527170 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1282dup (p.Ile428fs) duplication Glycogen storage disease, type VII [RCV003476873] Chr12:48140811..48140812 [GRCh38]
Chr12:48534594..48534595 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs) indel Glycogen storage disease, type VII [RCV003476874] Chr12:48134974..48134978 [GRCh38]
Chr12:48528757..48528761 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.2175del (p.Glu725fs) deletion Glycogen storage disease, type VII [RCV003476875] Chr12:48145292 [GRCh38]
Chr12:48539075 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_001166686.2(PFKM):c.206-4206A>G single nucleotide variant not provided [RCV003391770] Chr12:48118561 [GRCh38]
Chr12:48512344 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1876_1880+2del deletion Glycogen storage disease, type VII [RCV003476870] Chr12:48143810..48143816 [GRCh38]
Chr12:48537593..48537599 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter) single nucleotide variant Glycogen storage disease, type VII [RCV003472433] Chr12:48133025 [GRCh38]
Chr12:48526808 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.-8-2A>G single nucleotide variant Glycogen storage disease, type VII [RCV003472432] Chr12:48122765 [GRCh38]
Chr12:48516548 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.1063-18G>C single nucleotide variant Glycogen storage disease, type VII [RCV003496007] Chr12:48139267 [GRCh38]
Chr12:48533050 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.160-14A>G single nucleotide variant Glycogen storage disease, type VII [RCV003494695] Chr12:48131302 [GRCh38]
Chr12:48525085 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter) single nucleotide variant Glycogen storage disease, type VII [RCV003496212] Chr12:48141753 [GRCh38]
Chr12:48535536 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.1062+9T>C single nucleotide variant Glycogen storage disease, type VII [RCV003495092] Chr12:48137855 [GRCh38]
Chr12:48531638 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1063-7C>A single nucleotide variant Glycogen storage disease, type VII [RCV003496491] Chr12:48139278 [GRCh38]
Chr12:48533061 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1992+20C>A single nucleotide variant Glycogen storage disease, type VII [RCV003496517] Chr12:48144177 [GRCh38]
Chr12:48537960 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1654-7C>T single nucleotide variant Glycogen storage disease, type VII [RCV003496614] Chr12:48142775 [GRCh38]
Chr12:48536558 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2241C>A (p.Pro747=) single nucleotide variant Glycogen storage disease, type VII [RCV003495637] Chr12:48145606 [GRCh38]
Chr12:48539389 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1091del (p.Glu364fs) deletion Glycogen storage disease, type VII [RCV003496289] Chr12:48139313 [GRCh38]
Chr12:48533096 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.786G>A (p.Val262=) single nucleotide variant Glycogen storage disease, type VII [RCV003495003] Chr12:48134981 [GRCh38]
Chr12:48528764 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-8T>A single nucleotide variant Glycogen storage disease, type VII [RCV003496481] Chr12:48137713 [GRCh38]
Chr12:48531496 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.264G>A (p.Arg88=) single nucleotide variant Glycogen storage disease, type VII [RCV003496011] Chr12:48132894 [GRCh38]
Chr12:48526677 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1707C>A (p.Ile569=) single nucleotide variant Glycogen storage disease, type VII [RCV003496625] Chr12:48142835 [GRCh38]
Chr12:48536618 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.708T>C (p.Asp236=) single nucleotide variant Glycogen storage disease, type VII [RCV003496740] Chr12:48134790 [GRCh38]
Chr12:48528573 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1827del (p.Glu610fs) deletion Glycogen storage disease, type VII [RCV003496193] Chr12:48143760 [GRCh38]
Chr12:48537543 [GRCh37]
Chr12:12q13.11
pathogenic
NM_000289.6(PFKM):c.2198+8C>T single nucleotide variant Glycogen storage disease, type VII [RCV003496020] Chr12:48145323 [GRCh38]
Chr12:48539106 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2047_2092+14del deletion Glycogen storage disease, type VII [RCV003495402] Chr12:48145083..48145142 [GRCh38]
Chr12:48538866..48538925 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.85+9del deletion Glycogen storage disease, type VII [RCV003496036] Chr12:48122867 [GRCh38]
Chr12:48516650 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1713G>A (p.Glu571=) single nucleotide variant Glycogen storage disease, type VII [RCV003496648] Chr12:48142841 [GRCh38]
Chr12:48536624 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1953C>A (p.Ile651=) single nucleotide variant Glycogen storage disease, type VII [RCV003496155] Chr12:48144118 [GRCh38]
Chr12:48537901 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1192-9C>T single nucleotide variant Glycogen storage disease, type VII [RCV003495679] Chr12:48140713 [GRCh38]
Chr12:48534496 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.549T>C (p.His183=) single nucleotide variant Glycogen storage disease, type VII [RCV003495813] Chr12:48133436 [GRCh38]
Chr12:48527219 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1992+13C>G single nucleotide variant Glycogen storage disease, type VII [RCV003495038] Chr12:48144170 [GRCh38]
Chr12:48537953 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.937-15T>C single nucleotide variant Glycogen storage disease, type VII [RCV003494861] Chr12:48137706 [GRCh38]
Chr12:48531489 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.593+18G>C single nucleotide variant Glycogen storage disease, type VII [RCV003494875] Chr12:48133498 [GRCh38]
Chr12:48527281 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.638+7T>A single nucleotide variant Glycogen storage disease, type VII [RCV003496438] Chr12:48134283 [GRCh38]
Chr12:48528066 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2175G>A (p.Glu725=) single nucleotide variant Glycogen storage disease, type VII [RCV003494911] Chr12:48145292 [GRCh38]
Chr12:48539075 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1653+19T>C single nucleotide variant Glycogen storage disease, type VII [RCV003495993] Chr12:48142085 [GRCh38]
Chr12:48535868 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.660T>C (p.Ser220=) single nucleotide variant Glycogen storage disease, type VII [RCV003494997] Chr12:48134742 [GRCh38]
Chr12:48528525 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.201A>G (p.Glu67=) single nucleotide variant Glycogen storage disease, type VII [RCV003496475] Chr12:48131357 [GRCh38]
Chr12:48525140 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala) single nucleotide variant Glycogen storage disease, type VII [RCV003494673] Chr12:48142900 [GRCh38]
Chr12:48536683 [GRCh37]
Chr12:12q13.11
likely pathogenic
NM_000289.6(PFKM):c.2093-7A>C single nucleotide variant Glycogen storage disease, type VII [RCV003495941] Chr12:48145203 [GRCh38]
Chr12:48538986 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1500+15C>T single nucleotide variant Glycogen storage disease, type VII [RCV003494857] Chr12:48141842 [GRCh38]
Chr12:48535625 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2199-15C>T single nucleotide variant Glycogen storage disease, type VII [RCV003494870] Chr12:48145549 [GRCh38]
Chr12:48539332 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1128-19_1128-16del deletion Glycogen storage disease, type VII [RCV003495966] Chr12:48139829..48139832 [GRCh38]
Chr12:48533612..48533615 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.844-11G>T single nucleotide variant Glycogen storage disease, type VII [RCV003877018] Chr12:48135280 [GRCh38]
Chr12:48529063 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1062+14C>T single nucleotide variant Glycogen storage disease, type VII [RCV003495400] Chr12:48137860 [GRCh38]
Chr12:48531643 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.638+12A>C single nucleotide variant Glycogen storage disease, type VII [RCV003495406] Chr12:48134288 [GRCh38]
Chr12:48528071 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2093-8C>T single nucleotide variant Glycogen storage disease, type VII [RCV003496626] Chr12:48145202 [GRCh38]
Chr12:48538985 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.789T>C (p.Ala263=) single nucleotide variant Glycogen storage disease, type VII [RCV003496270] Chr12:48134984 [GRCh38]
Chr12:48528767 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.85+11G>C single nucleotide variant Glycogen storage disease, type VII [RCV003495369] Chr12:48122870 [GRCh38]
Chr12:48516653 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser) single nucleotide variant Glycogen storage disease, type VII [RCV003496296] Chr12:48133057 [GRCh38]
Chr12:48526840 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.160-11G>A single nucleotide variant Glycogen storage disease, type VII [RCV003496704] Chr12:48131305 [GRCh38]
Chr12:48525088 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp) single nucleotide variant Glycogen storage disease, type VII [RCV003496711] Chr12:48145077 [GRCh38]
Chr12:48538860 [GRCh37]
Chr12:12q13.11
uncertain significance
NM_000289.6(PFKM):c.879T>C (p.Val293=) single nucleotide variant Glycogen storage disease, type VII [RCV003495526] Chr12:48135326 [GRCh38]
Chr12:48529109 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1192-19C>T single nucleotide variant Glycogen storage disease, type VII [RCV003494679] Chr12:48140703 [GRCh38]
Chr12:48534486 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.2043C>A (p.Ala681=) single nucleotide variant Glycogen storage disease, type VII [RCV003494693] Chr12:48145081 [GRCh38]
Chr12:48538864 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.15G>A (p.Glu5=) single nucleotide variant Glycogen storage disease, type VII [RCV003495703] Chr12:48122789 [GRCh38]
Chr12:48516572 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.34C>T (p.Leu12=) single nucleotide variant Glycogen storage disease, type VII [RCV003496359] Chr12:48122808 [GRCh38]
Chr12:48516591 [GRCh37]
Chr12:12q13.11
likely benign
NM_000289.6(PFKM):c.1152G>A (p.Val384=) single nucleotide variant Glycogen storage disease, type VII [RCV003494792] Chr12:48139873 [GRCh38]
Chr12:48533656 [GRCh37]
Chr12:12q13.11
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7417
Count of miRNA genes:1313
Interacting mature miRNAs:1728
Transcripts:ENST00000312352, ENST00000340802, ENST00000359794, ENST00000395233, ENST00000546465, ENST00000546755, ENST00000546964, ENST00000547066, ENST00000547148, ENST00000547581, ENST00000547587, ENST00000548288, ENST00000548345, ENST00000548720, ENST00000549003, ENST00000549022, ENST00000549366, ENST00000549941, ENST00000550257, ENST00000550345, ENST00000550802, ENST00000550924, ENST00000551339, ENST00000551485, ENST00000551548, ENST00000551804, ENST00000552214, ENST00000552752, ENST00000552792, ENST00000552818, ENST00000552989, ENST00000553055
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-5984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,535,690 - 48,535,854UniSTSGRCh37
Build 361246,821,957 - 46,822,121RGDNCBI36
Celera1247,333,194 - 47,333,358RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,567,171 - 45,567,335UniSTS
Stanford-G3 RH Map121904.0UniSTS
GeneMap99-GB4 RH Map12212.54UniSTS
NCBI RH Map12394.0UniSTS
GeneMap99-G3 RH Map121850.0UniSTS
D12S1157E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,539,608 - 48,539,734UniSTSGRCh37
Build 361246,825,875 - 46,826,001RGDNCBI36
Celera1247,337,112 - 47,337,238RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,571,089 - 45,571,215UniSTS
GDB:342275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,524,131 - 48,524,225UniSTSGRCh37
Build 361246,810,398 - 46,810,492RGDNCBI36
Celera1247,321,635 - 47,321,729RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,555,612 - 45,555,706UniSTS
GDB:581748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,512,457 - 48,513,188UniSTSGRCh37
Build 361246,798,724 - 46,799,455RGDNCBI36
Celera1247,309,961 - 47,310,691RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,543,938 - 45,544,669UniSTS
PFKM_8537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,539,409 - 48,539,988UniSTSGRCh37
Build 361246,825,676 - 46,826,255RGDNCBI36
Celera1247,336,913 - 47,337,492RGD
HuRef1245,570,890 - 45,571,469UniSTS
RH17705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,526,779 - 48,527,169UniSTSGRCh37
Build 361246,813,046 - 46,813,436RGDNCBI36
Celera1247,324,283 - 47,324,673RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,558,260 - 45,558,650UniSTS
GeneMap99-GB4 RH Map12212.51UniSTS
NCBI RH Map12394.0UniSTS
RH71215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,539,616 - 48,539,738UniSTSGRCh37
Build 361246,825,883 - 46,826,005RGDNCBI36
Celera1247,337,120 - 47,337,242RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,571,097 - 45,571,219UniSTS
GeneMap99-GB4 RH Map12197.16UniSTS
RH17704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,516,288 - 48,516,536UniSTSGRCh37
Build 361246,802,555 - 46,802,803RGDNCBI36
Celera1247,313,792 - 47,314,040RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,547,769 - 45,548,017UniSTS
GeneMap99-GB4 RH Map12212.51UniSTS
NCBI RH Map12394.0UniSTS
RH11170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,539,617 - 48,539,740UniSTSGRCh37
Build 361246,825,884 - 46,826,007RGDNCBI36
Celera1247,337,121 - 47,337,244RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,571,098 - 45,571,221UniSTS
GeneMap99-GB4 RH Map12213.47UniSTS
NCBI RH Map12390.8UniSTS
D12S2022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,539,551 - 48,539,888UniSTSGRCh37
Build 361246,825,818 - 46,826,155RGDNCBI36
Celera1247,337,055 - 47,337,392RGD
Cytogenetic Map12q13.3UniSTS
HuRef1245,571,032 - 45,571,369UniSTS
TNG Radiation Hybrid Map1221774.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
GeneMap99-G3 RH Map121850.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
GDB:375078  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
D10S2448  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map2q32.3UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
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
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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
GDB:542985  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
GDB:542997  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
GDB:375070  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
GDB:375075  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
GDB:375081  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.3UniSTS
GDB:375084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,535,713 - 48,536,729UniSTSGRCh37
Celera1247,333,217 - 47,334,233UniSTS
Cytogenetic Map12q13.3UniSTS
HuRef1245,567,194 - 45,568,210UniSTS
GDB:375087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,536,567 - 48,537,597UniSTSGRCh37
Celera1247,334,071 - 47,335,101UniSTS
Cytogenetic Map12q13.3UniSTS
HuRef1245,568,048 - 45,569,078UniSTS
PFKM_intron19  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,535,820 - 48,536,587UniSTSGRCh37
Celera1247,333,324 - 47,334,091UniSTS
HuRef1245,567,301 - 45,568,068UniSTS


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 25 25 25
Medium 2339 2177 1316 209 1116 66 4240 2116 3556 395 1417 1575 158 1126 2757 3
Low 94 804 409 413 822 397 91 53 168 23 38 37 17 1 78 6 2 1
Below cutoff 1 9 1 1 11 2 1 6 1 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU683561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA525437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA560355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA761651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA795106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB081387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S43942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z34905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000312352   ⟹   ENSP00000309438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,122,647 - 48,146,404 (+)Ensembl
RefSeq Acc Id: ENST00000340802   ⟹   ENSP00000345771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,923 - 48,146,404 (+)Ensembl
RefSeq Acc Id: ENST00000359794   ⟹   ENSP00000352842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,364 - 48,146,404 (+)Ensembl
RefSeq Acc Id: ENST00000546465   ⟹   ENSP00000446519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,122,720 - 48,142,813 (+)Ensembl
RefSeq Acc Id: ENST00000546755   ⟹   ENSP00000450173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,107 - 48,122,841 (+)Ensembl
RefSeq Acc Id: ENST00000546964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,343 - 48,146,104 (+)Ensembl
RefSeq Acc Id: ENST00000547066   ⟹   ENSP00000448318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,264 - 48,131,383 (+)Ensembl
RefSeq Acc Id: ENST00000547148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,137,357 - 48,141,316 (+)Ensembl
RefSeq Acc Id: ENST00000547581   ⟹   ENSP00000447992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,106 - 48,146,104 (+)Ensembl
RefSeq Acc Id: ENST00000547587   ⟹   ENSP00000449426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,122,647 - 48,146,104 (+)Ensembl
RefSeq Acc Id: ENST00000548288   ⟹   ENSP00000448018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,388 - 48,131,368 (+)Ensembl
RefSeq Acc Id: ENST00000548345   ⟹   ENSP00000449269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,391 - 48,134,829 (+)Ensembl
RefSeq Acc Id: ENST00000548720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,348 - 48,131,719 (+)Ensembl
RefSeq Acc Id: ENST00000549003   ⟹   ENSP00000449835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,482 - 48,132,980 (+)Ensembl
RefSeq Acc Id: ENST00000549022   ⟹   ENSP00000446805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,122,574 - 48,133,370 (+)Ensembl
RefSeq Acc Id: ENST00000549366   ⟹   ENSP00000449622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,116 - 48,131,342 (+)Ensembl
RefSeq Acc Id: ENST00000549941   ⟹   ENSP00000446829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,911 - 48,145,917 (+)Ensembl
RefSeq Acc Id: ENST00000550257   ⟹   ENSP00000447997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,923 - 48,146,404 (+)Ensembl
RefSeq Acc Id: ENST00000550345   ⟹   ENSP00000450369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,139 - 48,146,079 (+)Ensembl
RefSeq Acc Id: ENST00000550802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,141,338 - 48,144,073 (+)Ensembl
RefSeq Acc Id: ENST00000550924   ⟹   ENSP00000446945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,105,621 - 48,145,911 (+)Ensembl
RefSeq Acc Id: ENST00000551339   ⟹   ENSP00000448253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,327 - 48,146,088 (+)Ensembl
RefSeq Acc Id: ENST00000551485   ⟹   ENSP00000448315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,352 - 48,133,320 (+)Ensembl
RefSeq Acc Id: ENST00000551548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,352 - 48,131,920 (+)Ensembl
RefSeq Acc Id: ENST00000551804   ⟹   ENSP00000448177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,787 - 48,146,104 (+)Ensembl
RefSeq Acc Id: ENST00000552214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,141,672 - 48,142,897 (+)Ensembl
RefSeq Acc Id: ENST00000552752   ⟹   ENSP00000446740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,137,791 - 48,142,866 (+)Ensembl
RefSeq Acc Id: ENST00000552792   ⟹   ENSP00000448940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,144 - 48,131,392 (+)Ensembl
RefSeq Acc Id: ENST00000552818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,141,705 - 48,142,378 (+)Ensembl
RefSeq Acc Id: ENST00000552989   ⟹   ENSP00000447774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,351 - 48,137,815 (+)Ensembl
RefSeq Acc Id: ENST00000629846   ⟹   ENSP00000486196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,119,343 - 48,132,090 (+)Ensembl
RefSeq Acc Id: ENST00000642730   ⟹   ENSP00000496597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,106,118 - 48,146,079 (+)Ensembl
RefSeq Acc Id: NM_000289   ⟹   NP_000280
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)ENTREZGENE
Build 361246,802,817 - 46,826,154 (+)NCBI Archive
HuRef1245,531,136 - 45,571,668 (+)ENTREZGENE
CHM1_11248,478,448 - 48,505,624 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166686   ⟹   NP_001160158
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)ENTREZGENE
HuRef1245,531,136 - 45,571,668 (+)ENTREZGENE
CHM1_11248,465,088 - 48,505,624 (+)NCBI
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166687   ⟹   NP_001160159
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,122,647 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)ENTREZGENE
HuRef1245,531,136 - 45,571,668 (+)ENTREZGENE
CHM1_11248,481,865 - 48,505,624 (+)NCBI
T2T-CHM13v2.01248,083,989 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001166688   ⟹   NP_001160160
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,122,647 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)ENTREZGENE
HuRef1245,531,136 - 45,571,668 (+)ENTREZGENE
CHM1_11248,481,865 - 48,505,624 (+)NCBI
T2T-CHM13v2.01248,083,989 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354735   ⟹   NP_001341664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354736   ⟹   NP_001341665
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354737   ⟹   NP_001341666
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354738   ⟹   NP_001341667
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354739   ⟹   NP_001341668
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354740   ⟹   NP_001341669
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,230 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,572 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354741   ⟹   NP_001341670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,353 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,066,690 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354742   ⟹   NP_001341671
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,353 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,066,690 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354743   ⟹   NP_001341672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,481 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,066,818 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354744   ⟹   NP_001341673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354745   ⟹   NP_001341674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354746   ⟹   NP_001341675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354747   ⟹   NP_001341676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,353 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,066,690 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354748   ⟹   NP_001341677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363619   ⟹   NP_001350548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148954
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148955
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,873 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,067,212 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148956
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148957
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148958
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148959
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,146,404 (+)NCBI
T2T-CHM13v2.01248,080,706 - 48,107,749 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268974   ⟹   XP_005269031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268976   ⟹   XP_005269033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
GRCh371248,499,656 - 48,540,187 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538487   ⟹   XP_011536789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,481 - 48,146,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019469   ⟹   XP_016874958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,106,116 - 48,146,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449020   ⟹   XP_024304788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449021   ⟹   XP_024304789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449022   ⟹   XP_024304790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,819 - 48,146,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428999   ⟹   XP_047284955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,481 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_047429000   ⟹   XP_047284956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,481 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_047429001   ⟹   XP_047284957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_047429002   ⟹   XP_047284958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_047429003   ⟹   XP_047284959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,230 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_047429004   ⟹   XP_047284960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,105,923 - 48,146,404 (+)NCBI
RefSeq Acc Id: XM_054372269   ⟹   XP_054228244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372270   ⟹   XP_054228245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372271   ⟹   XP_054228246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372272   ⟹   XP_054228247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372273   ⟹   XP_054228248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372274   ⟹   XP_054228249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,726 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372275   ⟹   XP_054228250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,024 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372276   ⟹   XP_054228251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372277   ⟹   XP_054228252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,455 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372278   ⟹   XP_054228253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,726 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372279   ⟹   XP_054228254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372280   ⟹   XP_054228255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,080,572 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372281   ⟹   XP_054228256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,067,262 - 48,107,749 (+)NCBI
RefSeq Acc Id: XM_054372282   ⟹   XP_054228257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,081,182 - 48,107,749 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000280 (Get FASTA)   NCBI Sequence Viewer  
  NP_001160158 (Get FASTA)   NCBI Sequence Viewer  
  NP_001160159 (Get FASTA)   NCBI Sequence Viewer  
  NP_001160160 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341664 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341665 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341666 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341667 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341668 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341669 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341671 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341672 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341674 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341675 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350548 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269031 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269033 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536789 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874958 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304788 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304789 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304790 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284955 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284956 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284957 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284958 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284959 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228251 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228252 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228253 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228254 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228255 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228256 (Get FASTA)   NCBI Sequence Viewer  
  XP_054228257 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36436 (Get FASTA)   NCBI Sequence Viewer  
  AAA60068 (Get FASTA)   NCBI Sequence Viewer  
  AAA60069 (Get FASTA)   NCBI Sequence Viewer  
  AAA79220 (Get FASTA)   NCBI Sequence Viewer  
  AAA91985 (Get FASTA)   NCBI Sequence Viewer  
  AAB31343 (Get FASTA)   NCBI Sequence Viewer  
  AAD14957 (Get FASTA)   NCBI Sequence Viewer  
  AAH00534 (Get FASTA)   NCBI Sequence Viewer  
  AAH07798 (Get FASTA)   NCBI Sequence Viewer  
  AAH12799 (Get FASTA)   NCBI Sequence Viewer  
  AAH13298 (Get FASTA)   NCBI Sequence Viewer  
  AAH21203 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33709 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33710 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33711 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33712 (Get FASTA)   NCBI Sequence Viewer  
  BAC86498 (Get FASTA)   NCBI Sequence Viewer  
  BAG64674 (Get FASTA)   NCBI Sequence Viewer  
  CAA68692 (Get FASTA)   NCBI Sequence Viewer  
  CAD97816 (Get FASTA)   NCBI Sequence Viewer  
  CAG46499 (Get FASTA)   NCBI Sequence Viewer  
  EAW57973 (Get FASTA)   NCBI Sequence Viewer  
  EAW57974 (Get FASTA)   NCBI Sequence Viewer  
  EAW57975 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000309438
  ENSP00000309438.7
  ENSP00000345771
  ENSP00000345771.6
  ENSP00000352842
  ENSP00000352842.5
  ENSP00000446519.1
  ENSP00000446740.1
  ENSP00000446805.1
  ENSP00000446829
  ENSP00000446829.3
  ENSP00000446945
  ENSP00000446945.2
  ENSP00000447774.1
  ENSP00000447992.1
  ENSP00000447997
  ENSP00000447997.3
  ENSP00000448018.1
  ENSP00000448177
  ENSP00000448177.1
  ENSP00000448253
  ENSP00000448253.2
  ENSP00000448315.1
  ENSP00000448318.1
  ENSP00000448940.1
  ENSP00000449269.1
  ENSP00000449426
  ENSP00000449426.1
  ENSP00000449622.1
  ENSP00000449835.1
  ENSP00000450173.1
  ENSP00000450369
  ENSP00000450369.2
  ENSP00000486196.1
  ENSP00000496597
  ENSP00000496597.1
GenBank Protein P08237 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001160158   ⟸   NM_001166686
- Peptide Label: isoform 1
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000280   ⟸   NM_000289
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001160160   ⟸   NM_001166688
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001160159   ⟸   NM_001166687
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269033   ⟸   XM_005268976
- Peptide Label: isoform X5
- UniProtKB: A0A2R8Y891 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269031   ⟸   XM_005268974
- Peptide Label: isoform X5
- UniProtKB: A0A2R8Y891 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536789   ⟸   XM_011538487
- Peptide Label: isoform X2
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016874958   ⟸   XM_017019469
- Peptide Label: isoform X8
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341670   ⟸   NM_001354741
- Peptide Label: isoform 5
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341671   ⟸   NM_001354742
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341676   ⟸   NM_001354747
- Peptide Label: isoform 8
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341672   ⟸   NM_001354743
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304789   ⟸   XM_024449021
- Peptide Label: isoform X9
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304788   ⟸   XM_024449020
- Peptide Label: isoform X6
- UniProtKB: F8VTQ3 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341665   ⟸   NM_001354736
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y891 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341666   ⟸   NM_001354737
- Peptide Label: isoform 1
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341664   ⟸   NM_001354735
- Peptide Label: isoform 3
- UniProtKB: A0A2R8Y891 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341668   ⟸   NM_001354739
- Peptide Label: isoform 1
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341667   ⟸   NM_001354738
- Peptide Label: isoform 1
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341669   ⟸   NM_001354740
- Peptide Label: isoform 4
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341673   ⟸   NM_001354744
- Peptide Label: isoform 2
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341674   ⟸   NM_001354745
- Peptide Label: isoform 6
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341675   ⟸   NM_001354746
- Peptide Label: isoform 7
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341677   ⟸   NM_001354748
- Peptide Label: isoform 8
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304790   ⟸   XM_024449022
- Peptide Label: isoform X12
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350548   ⟸   NM_001363619
- Peptide Label: isoform 9
- UniProtKB: A0A0S2Z4I1 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000352842   ⟸   ENST00000359794
RefSeq Acc Id: ENSP00000446519   ⟸   ENST00000546465
RefSeq Acc Id: ENSP00000450173   ⟸   ENST00000546755
RefSeq Acc Id: ENSP00000447992   ⟸   ENST00000547581
RefSeq Acc Id: ENSP00000449426   ⟸   ENST00000547587
RefSeq Acc Id: ENSP00000448318   ⟸   ENST00000547066
RefSeq Acc Id: ENSP00000449269   ⟸   ENST00000548345
RefSeq Acc Id: ENSP00000448018   ⟸   ENST00000548288
RefSeq Acc Id: ENSP00000446829   ⟸   ENST00000549941
RefSeq Acc Id: ENSP00000449622   ⟸   ENST00000549366
RefSeq Acc Id: ENSP00000446805   ⟸   ENST00000549022
RefSeq Acc Id: ENSP00000449835   ⟸   ENST00000549003
RefSeq Acc Id: ENSP00000309438   ⟸   ENST00000312352
RefSeq Acc Id: ENSP00000486196   ⟸   ENST00000629846
RefSeq Acc Id: ENSP00000496597   ⟸   ENST00000642730
RefSeq Acc Id: ENSP00000446945   ⟸   ENST00000550924
RefSeq Acc Id: ENSP00000450369   ⟸   ENST00000550345
RefSeq Acc Id: ENSP00000447997   ⟸   ENST00000550257
RefSeq Acc Id: ENSP00000345771   ⟸   ENST00000340802
RefSeq Acc Id: ENSP00000448315   ⟸   ENST00000551485
RefSeq Acc Id: ENSP00000448253   ⟸   ENST00000551339
RefSeq Acc Id: ENSP00000448177   ⟸   ENST00000551804
RefSeq Acc Id: ENSP00000447774   ⟸   ENST00000552989
RefSeq Acc Id: ENSP00000448940   ⟸   ENST00000552792
RefSeq Acc Id: ENSP00000446740   ⟸   ENST00000552752
RefSeq Acc Id: XP_047284955   ⟸   XM_047428999
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284956   ⟸   XM_047429000
- Peptide Label: isoform X3
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284957   ⟸   XM_047429001
- Peptide Label: isoform X4
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284958   ⟸   XM_047429002
- Peptide Label: isoform X7
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284960   ⟸   XM_047429004
- Peptide Label: isoform X11
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284959   ⟸   XM_047429003
- Peptide Label: isoform X10
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228250   ⟸   XM_054372275
- Peptide Label: isoform X14
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228246   ⟸   XM_054372271
- Peptide Label: isoform X5
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228244   ⟸   XM_054372269
- Peptide Label: isoform X4
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228247   ⟸   XM_054372272
- Peptide Label: isoform X13
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228248   ⟸   XM_054372273
- Peptide Label: isoform X6
- UniProtKB: F8VTQ3 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228251   ⟸   XM_054372276
- Peptide Label: isoform X7
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228254   ⟸   XM_054372279
- Peptide Label: isoform X9
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228256   ⟸   XM_054372281
- Peptide Label: isoform X11
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228252   ⟸   XM_054372277
- Peptide Label: isoform X8
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228245   ⟸   XM_054372270
- Peptide Label: isoform X5
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228249   ⟸   XM_054372274
- Peptide Label: isoform X14
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228253   ⟸   XM_054372278
- Peptide Label: isoform X8
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228255   ⟸   XM_054372280
- Peptide Label: isoform X10
- UniProtKB: Q96I60 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228257   ⟸   XM_054372282
- Peptide Label: isoform X12
- UniProtKB: Q16815 (UniProtKB/Swiss-Prot),   Q16814 (UniProtKB/Swiss-Prot),   P08237 (UniProtKB/Swiss-Prot),   J3KNX3 (UniProtKB/Swiss-Prot),   Q6ZTT1 (UniProtKB/Swiss-Prot),   A0A024R0Y5 (UniProtKB/TrEMBL),   Q96I60 (UniProtKB/TrEMBL)
Protein Domains
Phosphofructokinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08237-F1-model_v2 AlphaFold P08237 1-780 view protein structure

Promoters
RGD ID:6790356
Promoter ID:HG_KWN:15498
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000395233,   NM_000289,   UC001RRD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361246,799,111 - 46,799,611 (+)MPROMDB
RGD ID:7223737
Promoter ID:EPDNEW_H17614
Type:initiation region
Name:PFKM_1
Description:phosphofructokinase, muscle
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17615  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,119,364 - 48,119,424EPDNEW
RGD ID:7223739
Promoter ID:EPDNEW_H17615
Type:initiation region
Name:PFKM_2
Description:phosphofructokinase, muscle
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17614  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,122,647 - 48,122,707EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8877 AgrOrtholog
COSMIC PFKM COSMIC
Ensembl Genes ENSG00000152556 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000312352 ENTREZGENE
  ENST00000312352.11 UniProtKB/Swiss-Prot
  ENST00000340802 ENTREZGENE
  ENST00000340802.12 UniProtKB/Swiss-Prot
  ENST00000359794 ENTREZGENE
  ENST00000359794.11 UniProtKB/Swiss-Prot
  ENST00000546465.1 UniProtKB/TrEMBL
  ENST00000546755.5 UniProtKB/TrEMBL
  ENST00000546964 ENTREZGENE
  ENST00000547066.5 UniProtKB/TrEMBL
  ENST00000547581 ENTREZGENE
  ENST00000547581.5 UniProtKB/TrEMBL
  ENST00000547587 ENTREZGENE
  ENST00000547587.5 UniProtKB/Swiss-Prot
  ENST00000548288.5 UniProtKB/TrEMBL
  ENST00000548345.5 UniProtKB/TrEMBL
  ENST00000549003.5 UniProtKB/TrEMBL
  ENST00000549022.5 UniProtKB/TrEMBL
  ENST00000549366.5 UniProtKB/TrEMBL
  ENST00000549941 ENTREZGENE
  ENST00000549941.7 UniProtKB/TrEMBL
  ENST00000550257 ENTREZGENE
  ENST00000550257.7 UniProtKB/TrEMBL
  ENST00000550345 ENTREZGENE
  ENST00000550345.6 UniProtKB/Swiss-Prot
  ENST00000550924 ENTREZGENE
  ENST00000550924.6 UniProtKB/Swiss-Prot
  ENST00000551339 ENTREZGENE
  ENST00000551339.6 UniProtKB/Swiss-Prot
  ENST00000551485.5 UniProtKB/TrEMBL
  ENST00000551804 ENTREZGENE
  ENST00000551804.5 UniProtKB/Swiss-Prot
  ENST00000552752.5 UniProtKB/TrEMBL
  ENST00000552792.5 UniProtKB/TrEMBL
  ENST00000552989.5 UniProtKB/TrEMBL
  ENST00000629846.2 UniProtKB/TrEMBL
  ENST00000642730 ENTREZGENE
  ENST00000642730.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.460 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000152556 GTEx
HGNC ID HGNC:8877 ENTREZGENE
Human Proteome Map PFKM Human Proteome Map
InterPro 6-Pfructokinase_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_PFK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PFK_vert-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphofructokinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphofructokinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKF_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5213 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5213 ENTREZGENE
OMIM 610681 OMIM
PANTHER ATP-DEPENDENT 6-PHOSPHOFRUCTOKINASE, MUSCLE TYPE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHOFRUCTOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PFK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33216 PharmGKB
PIRSF ATP_PFK_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PHFRCTKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PHOSPHOFRUCTOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R0Y5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4A1_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4A8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4I1 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y891 ENTREZGENE, UniProtKB/TrEMBL
  F8VNZ1_HUMAN UniProtKB/TrEMBL
  F8VP00_HUMAN UniProtKB/TrEMBL
  F8VSF5_HUMAN UniProtKB/TrEMBL
  F8VSF7_HUMAN UniProtKB/TrEMBL
  F8VTQ3 ENTREZGENE, UniProtKB/TrEMBL
  F8VTT5_HUMAN UniProtKB/TrEMBL
  F8VUB8_HUMAN UniProtKB/TrEMBL
  F8VVE3_HUMAN UniProtKB/TrEMBL
  F8VW30_HUMAN UniProtKB/TrEMBL
  F8VX13_HUMAN UniProtKB/TrEMBL
  F8VYK8_HUMAN UniProtKB/TrEMBL
  F8VZ53_HUMAN UniProtKB/TrEMBL
  F8VZI0_HUMAN UniProtKB/TrEMBL
  F8VZQ1_HUMAN UniProtKB/TrEMBL
  H0YHB8_HUMAN UniProtKB/TrEMBL
  J3KNX3 ENTREZGENE
  P08237 ENTREZGENE
  P78457_HUMAN UniProtKB/TrEMBL
  PFKAM_HUMAN UniProtKB/Swiss-Prot
  Q16814 ENTREZGENE
  Q16815 ENTREZGENE
  Q6ZTT1 ENTREZGENE
  Q7KYX9_HUMAN UniProtKB/TrEMBL
  Q96I60 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary J3KNX3 UniProtKB/Swiss-Prot
  Q16814 UniProtKB/Swiss-Prot
  Q16815 UniProtKB/Swiss-Prot
  Q6ZTT1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PFKM  phosphofructokinase, muscle  PFKX  phosphofructokinase, polypeptide X  Data merged from RGD:1353203 737654 PROVISIONAL