PYGL (glycogen phosphorylase L) - Rat Genome Database

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Gene: PYGL (glycogen phosphorylase L) Homo sapiens
Analyze
Symbol: PYGL
Name: glycogen phosphorylase L
RGD ID: 731803
HGNC Page HGNC
Description: Enables several functions, including anion binding activity; glucose binding activity; and glycogen phosphorylase activity. Involved in glucose homeostasis and glycogen metabolic process. Located in extracellular exosome. Implicated in glycogen storage disease; glycogen storage disease VI; and lactic acidosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycogen phosphorylase, liver form; GSD6; liver (Hers disease, glycogen storage disease type VI); liver glycogen phosphorylase; phosphorylase, glycogen; phosphorylase, glycogen, liver
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1450,857,891 - 50,944,483 (-)EnsemblGRCh38hg38GRCh38
GRCh381450,905,217 - 50,944,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371451,371,935 - 51,411,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,441,687 - 50,480,984 (-)NCBINCBI36hg18NCBI36
Build 341450,441,688 - 50,480,984NCBI
Celera1431,238,983 - 31,278,301 (-)NCBI
Cytogenetic Map14q22.1NCBI
HuRef1431,497,509 - 31,536,798 (-)NCBIHuRef
CHM1_11451,310,446 - 51,349,770 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
1H-pyrazole  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4'-hydroxyacetophenone  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
acrylamides  (EXP)
aldehydo-D-glucose  (ISO)
aluminium phosphide  (ISO)
alvocidib  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzamide  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (EXP)
Calcimycin  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
chloroacetic acid  (ISO)
chloroform  (ISO)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
Diosbulbin B  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
erythromycin estolate  (ISO)
fenofibrate  (ISO)
Geniposide  (EXP)
glafenine  (ISO)
glucose  (ISO)
ibuprofen  (ISO)
ifosfamide  (EXP)
isoprenaline  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
malathion  (ISO)
metformin  (ISO)
methylarsonite  (ISO)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
neostigmine  (ISO)
nickel dichloride  (ISO)
nicotinamide  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phentolamine  (ISO)
phenylephrine  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pyrogallol  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

References

Additional References at PubMed
PMID:2877458   PMID:2883891   PMID:3509980   PMID:8125298   PMID:9529348   PMID:10949035   PMID:10980448   PMID:11093832   PMID:12204691   PMID:12477932   PMID:14684825   PMID:15223230  
PMID:15489334   PMID:16196087   PMID:16344560   PMID:17081983   PMID:18029348   PMID:19615732   PMID:20301760   PMID:20379614   PMID:20800603   PMID:21873635   PMID:21903422   PMID:21988832  
PMID:22225877   PMID:22496890   PMID:22586326   PMID:22863883   PMID:23007406   PMID:23125841   PMID:23533145   PMID:24132900   PMID:25036637   PMID:25147182   PMID:25416956   PMID:25910212  
PMID:25963833   PMID:26186194   PMID:26344197   PMID:26511642   PMID:26618866   PMID:26638075   PMID:26831064   PMID:27173435   PMID:27342126   PMID:28330616   PMID:28514442   PMID:28581483  
PMID:28675297   PMID:29053956   PMID:29467282   PMID:29507755   PMID:30021884   PMID:30097533   PMID:30397336   PMID:30463901   PMID:30711629   PMID:31091453   PMID:31239290   PMID:31950832  
PMID:31995728   PMID:32126244   PMID:32268899   PMID:32296183   PMID:32416067   PMID:32807901   PMID:32892177   PMID:33141564   PMID:33144569   PMID:33879691  


Genomics

Comparative Map Data
PYGL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1450,857,891 - 50,944,483 (-)EnsemblGRCh38hg38GRCh38
GRCh381450,905,217 - 50,944,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371451,371,935 - 51,411,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361450,441,687 - 50,480,984 (-)NCBINCBI36hg18NCBI36
Build 341450,441,688 - 50,480,984NCBI
Celera1431,238,983 - 31,278,301 (-)NCBI
Cytogenetic Map14q22.1NCBI
HuRef1431,497,509 - 31,536,798 (-)NCBIHuRef
CHM1_11451,310,446 - 51,349,770 (-)NCBICHM1_1
Pygl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391270,237,589 - 70,274,457 (-)NCBIGRCm39mm39
GRCm39 Ensembl1270,237,585 - 70,278,262 (-)Ensembl
GRCm381270,190,815 - 70,227,683 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1270,190,811 - 70,231,488 (-)EnsemblGRCm38mm10GRCm38
MGSCv371271,291,802 - 71,328,670 (-)NCBIGRCm37mm9NCBIm37
MGSCv361271,109,416 - 71,146,222 (-)NCBImm8
Celera1271,292,479 - 71,327,360 (-)NCBICelera
Cytogenetic Map12C2NCBI
cM Map1229.01NCBI
Pygl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2688,697,598 - 88,740,260 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl688,697,593 - 88,740,310 (-)Ensembl
Rnor_6.0692,597,759 - 92,643,734 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl692,597,706 - 92,643,847 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06102,045,144 - 102,091,119 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4692,298,339 - 92,341,347 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1692,301,796 - 92,344,803 (-)NCBI
Celera687,191,869 - 87,228,313 (-)NCBICelera
Cytogenetic Map6q24NCBI
Pygl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540911,970,112 - 12,007,102 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540911,970,112 - 12,007,102 (+)NCBIChiLan1.0ChiLan1.0
PYGL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11449,793,210 - 49,832,786 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1449,746,309 - 49,832,786 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01431,494,172 - 31,533,545 (-)NCBIMhudiblu_PPA_v0panPan3
PYGL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1827,264,778 - 27,307,977 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl827,223,273 - 27,307,977 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha827,018,142 - 27,061,230 (-)NCBI
ROS_Cfam_1.0827,443,863 - 27,486,861 (-)NCBI
UMICH_Zoey_3.1827,098,985 - 27,141,894 (-)NCBI
UNSW_CanFamBas_1.0827,171,662 - 27,214,570 (-)NCBI
UU_Cfam_GSD_1.0827,519,107 - 27,562,008 (-)NCBI
Pygl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864059,463,043 - 59,498,992 (-)NCBI
SpeTri2.0NW_00493649514,692,688 - 14,728,663 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PYGL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1180,620,314 - 180,719,979 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11180,645,849 - 180,704,124 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21200,933,155 - 200,991,988 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PYGL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12427,987,676 - 28,030,919 (-)NCBI
ChlSab1.1 Ensembl2427,987,649 - 28,030,869 (-)Ensembl
Vero_WHO_p1.0NW_02366605316,283,872 - 16,325,710 (-)NCBI
Pygl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473117,990,877 - 18,028,351 (+)NCBI

Position Markers
D14S952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,393,718 - 51,393,828UniSTSGRCh37
GRCh371451,393,718 - 51,393,877UniSTSGRCh37
Build 361450,463,468 - 50,463,627RGDNCBI36
Celera1431,260,772 - 31,260,882UniSTS
Celera1431,260,772 - 31,260,931RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,519,278 - 31,519,437UniSTS
HuRef1431,519,278 - 31,519,388UniSTS
Stanford-G3 RH Map141509.0UniSTS
NCBI RH Map14510.4UniSTS
RH98538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,972 - 51,372,184UniSTSGRCh37
Build 361450,441,722 - 50,441,934RGDNCBI36
Celera1431,239,020 - 31,239,232RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,497,546 - 31,497,758UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
SHGC-146483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,402,611 - 51,402,940UniSTSGRCh37
Build 361450,472,361 - 50,472,690RGDNCBI36
Celera1431,269,665 - 31,269,994RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,528,171 - 31,528,500UniSTS
SHGC-148088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,402,919 - 51,403,205UniSTSGRCh37
Build 361450,472,669 - 50,472,955RGDNCBI36
Celera1431,269,973 - 31,270,259RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,528,479 - 31,528,765UniSTS
TNG Radiation Hybrid Map1414148.0UniSTS
SGC33612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,763 - 51,386,864UniSTSGRCh37
Build 361450,456,513 - 50,456,614RGDNCBI36
Celera1431,253,817 - 31,253,918RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,324 - 31,512,425UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
Whitehead-RH Map14180.5UniSTS
NCBI RH Map14513.8UniSTS
A008Q22  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,786 - 51,386,980UniSTSGRCh37
Build 361450,456,536 - 50,456,730RGDNCBI36
Celera1431,253,840 - 31,254,034RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,347 - 31,512,541UniSTS
GeneMap99-GB4 RH Map14119.09UniSTS
NCBI RH Map14513.8UniSTS
WI-18152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,383,143 - 51,383,244UniSTSGRCh37
Build 361450,452,893 - 50,452,994RGDNCBI36
Celera1431,250,199 - 31,250,300RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,508,706 - 31,508,807UniSTS
GeneMap99-GB4 RH Map14119.3UniSTS
Whitehead-RH Map14181.2UniSTS
NCBI RH Map14461.5UniSTS
PYGL_8579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,740 - 51,372,264UniSTSGRCh37
Build 361450,441,490 - 50,442,014RGDNCBI36
Celera1431,238,788 - 31,239,312RGD
HuRef1431,497,314 - 31,497,838UniSTS
RH44709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,386,837 - 51,386,959UniSTSGRCh37
Build 361450,456,587 - 50,456,709RGDNCBI36
Celera1431,253,891 - 31,254,013RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,512,398 - 31,512,520UniSTS
GeneMap99-GB4 RH Map14119.3UniSTS
NCBI RH Map14461.5UniSTS
HUM000S289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,371,967 - 51,372,147UniSTSGRCh37
Build 361450,441,717 - 50,441,897RGDNCBI36
Celera1431,239,015 - 31,239,195RGD
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map14q21-q22UniSTS
HuRef1431,497,541 - 31,497,721UniSTS
Stanford-G3 RH Map141502.0UniSTS
NCBI RH Map14509.6UniSTS
GeneMap99-G3 RH Map141550.0UniSTS
AF046786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371451,381,154 - 51,381,315UniSTSGRCh37
Build 361450,450,904 - 50,451,065RGDNCBI36
Celera1431,248,201 - 31,248,371RGD
Cytogenetic Map14q21-q22UniSTS
HuRef1431,506,707 - 31,506,877UniSTS
D12S2025  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21-q22UniSTS
TNG Radiation Hybrid Map1414138.0UniSTS
Stanford-G3 RH Map141515.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map14511.1UniSTS
GeneMap99-G3 RH Map141563.0UniSTS
D14S952  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q21-q22UniSTS
Stanford-G3 RH Map141509.0UniSTS
NCBI RH Map14510.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:765
Count of miRNA genes:526
Interacting mature miRNAs:577
Transcripts:ENST00000216392, ENST00000528757, ENST00000530336, ENST00000532107, ENST00000532462, ENST00000544180, ENST00000553872
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.


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 34 34 1
Medium 1815 2286 1479 610 1197 455 3573 795 1229 256 1145 1510 169 1204 2022 4
Low 605 664 245 14 599 10 782 1400 2502 154 314 100 6 1 765 2 2
Below cutoff 17 7 2 108 1 2 3 9 1 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001163940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA523002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF046785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF066858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA287767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y15233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216392   ⟹   ENSP00000216392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,905,217 - 50,944,483 (-)Ensembl
RefSeq Acc Id: ENST00000528757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,915,190 - 50,915,940 (-)Ensembl
RefSeq Acc Id: ENST00000530336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,923,237 - 50,944,470 (-)Ensembl
RefSeq Acc Id: ENST00000532107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,908,142 - 50,911,871 (-)Ensembl
RefSeq Acc Id: ENST00000532462   ⟹   ENSP00000431657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,857,891 - 50,944,456 (-)Ensembl
RefSeq Acc Id: ENST00000544180   ⟹   ENSP00000443787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,905,218 - 50,944,483 (-)Ensembl
RefSeq Acc Id: ENST00000553872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1450,917,016 - 50,921,528 (-)Ensembl
RefSeq Acc Id: NM_001163940   ⟹   NP_001157412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,905,217 - 50,944,483 (-)NCBI
GRCh371451,371,935 - 51,411,248 (-)ENTREZGENE
HuRef1431,497,509 - 31,536,798 (-)ENTREZGENE
CHM1_11451,310,446 - 51,349,770 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002863   ⟹   NP_002854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,905,217 - 50,944,483 (-)NCBI
GRCh371451,371,935 - 51,411,248 (-)ENTREZGENE
Build 361450,441,687 - 50,480,984 (-)NCBI Archive
HuRef1431,497,509 - 31,536,798 (-)ENTREZGENE
CHM1_11451,310,446 - 51,349,770 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001157412   ⟸   NM_001163940
- Peptide Label: isoform 2
- UniProtKB: P06737 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002854   ⟸   NM_002863
- Peptide Label: isoform 1
- UniProtKB: P06737 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000216392   ⟸   ENST00000216392
RefSeq Acc Id: ENSP00000443787   ⟸   ENST00000544180
RefSeq Acc Id: ENSP00000431657   ⟸   ENST00000532462

Promoters
RGD ID:6791828
Promoter ID:HG_KWN:19357
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001163940,   NM_002863,   UC001WYV.1,   UC001WYW.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361450,480,706 - 50,481,206 (-)MPROMDB
RGD ID:7227581
Promoter ID:EPDNEW_H19535
Type:initiation region
Name:PYGL_1
Description:glycogen phosphorylase L
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,944,483 - 50,944,543EPDNEW
RGD ID:7227579
Promoter ID:EPDNEW_H19536
Type:initiation region
Name:PYGL_2
Description:glycogen phosphorylase L
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381450,944,722 - 50,944,782EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) single nucleotide variant not provided [RCV000728606] Chr14:50912166 [GRCh38]
Chr14:51378884 [GRCh37]
Chr14:14q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1768+1G>A single nucleotide variant Glycogen storage disease, type VI [RCV000012772] Chr14:50912155 [GRCh38]
Chr14:51378873 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.529-1G>C single nucleotide variant Glycogen storage disease, type VI [RCV000012773] Chr14:50924101 [GRCh38]
Chr14:51390819 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys) single nucleotide variant Glycogen storage disease, type VI [RCV000012775] Chr14:50915933 [GRCh38]
Chr14:51382651 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1620+1G>A single nucleotide variant Glycogen storage disease, type VI [RCV000012776] Chr14:50913028 [GRCh38]
Chr14:51379746 [GRCh37]
Chr14:14q22.1
pathogenic|likely pathogenic
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter) single nucleotide variant Glycogen storage disease, type VI [RCV000020492]|not provided [RCV000760439] Chr14:50915869 [GRCh38]
Chr14:51382587 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1366G>A (p.Val456Met) single nucleotide variant Glycogen storage disease, type VI [RCV000020493] Chr14:50915373 [GRCh38]
Chr14:51382091 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys) single nucleotide variant Glycogen storage disease, type VI [RCV000020494] Chr14:50914748 [GRCh38]
Chr14:51381466 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile) single nucleotide variant Glycogen storage disease, type VI [RCV000020495] Chr14:50911804 [GRCh38]
Chr14:51378522 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) single nucleotide variant Glycogen storage disease, type VI [RCV000020496]|not provided [RCV000675363]|not specified [RCV000175038] Chr14:50911799 [GRCh38]
Chr14:51378517 [GRCh37]
Chr14:14q22.1
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys) single nucleotide variant Glycogen storage disease, type VI [RCV000020497] Chr14:50910055 [GRCh38]
Chr14:51376773 [GRCh37]
Chr14:14q22.1
pathogenic|uncertain significance
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr) single nucleotide variant Glycogen storage disease, type VI [RCV000020498] Chr14:50910049 [GRCh38]
Chr14:51376767 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu) single nucleotide variant Glycogen storage disease, type VI [RCV000020499] Chr14:50910048 [GRCh38]
Chr14:51376766 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr) single nucleotide variant Glycogen storage disease, type VI [RCV000020500] Chr14:50910030 [GRCh38]
Chr14:51376748 [GRCh37]
Chr14:14q22.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His) single nucleotide variant Glycogen storage disease, type VI [RCV000020501] Chr14:50905475 [GRCh38]
Chr14:51372193 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter) single nucleotide variant Glycogen storage disease, type VI [RCV000020502] Chr14:50937801 [GRCh38]
Chr14:51404519 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro) single nucleotide variant Glycogen storage disease, type VI [RCV000020503]|not provided [RCV000594520] Chr14:50944366 [GRCh38]
Chr14:51411084 [GRCh37]
Chr14:14q22.1
pathogenic|uncertain significance
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) single nucleotide variant Glycogen storage disease, type VI [RCV000020504] Chr14:50921030 [GRCh38]
Chr14:51387748 [GRCh37]
Chr14:14q22.1
pathogenic|uncertain significance
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser) single nucleotide variant Glycogen storage disease, type VI [RCV000031853] Chr14:50916718 [GRCh38]
Chr14:51383436 [GRCh37]
Chr14:14q22.1
pathogenic
GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1 copy number loss See cases [RCV000051519] Chr14:50591011..56286919 [GRCh38]
Chr14:51057729..56753637 [GRCh37]
Chr14:50127479..55823390 [NCBI36]
Chr14:14q22.1-22.3
pathogenic
GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3 copy number gain See cases [RCV000052059] Chr14:50091150..51777325 [GRCh38]
Chr14:50557868..52244043 [GRCh37]
Chr14:49627618..51313793 [NCBI36]
Chr14:14q21.3-22.1
uncertain significance
GRCh38/hg38 14q22.1(chr14:50713909-50954844)x3 copy number gain See cases [RCV000052060] Chr14:50713909..50954844 [GRCh38]
Chr14:51180627..51421562 [GRCh37]
Chr14:50250377..50491312 [NCBI36]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.153C>T (p.Asp51=) single nucleotide variant Glycogen storage disease, type VI [RCV000329268]|not provided [RCV000675374]|not specified [RCV000173284] Chr14:50944251 [GRCh38]
Chr14:51410969 [GRCh37]
Chr14:14q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) single nucleotide variant Glycogen storage disease, type VI [RCV000969287]|not specified [RCV000173285] Chr14:50944228 [GRCh38]
Chr14:51410946 [GRCh37]
Chr14:14q22.1
benign
NM_002863.4(PYGL):c.1727G>A (p.Arg576Gln) single nucleotide variant Malignant melanoma [RCV000070550] Chr14:50912197 [GRCh38]
Chr14:51378915 [GRCh37]
Chr14:50448665 [NCBI36]
Chr14:14q22.1
not provided
NM_002863.4(PYGL):c.2255C>T (p.Ser752Phe) single nucleotide variant Malignant melanoma [RCV000062757] Chr14:50908878 [GRCh38]
Chr14:51375596 [GRCh37]
Chr14:50445346 [NCBI36]
Chr14:14q22.1
not provided
NM_002863.5(PYGL):c.1093-6C>A single nucleotide variant Glycogen storage disease, type VI [RCV000351588]|not specified [RCV000173763] Chr14:50915977 [GRCh38]
Chr14:51382695 [GRCh37]
Chr14:14q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) single nucleotide variant not provided [RCV000175037] Chr14:50911752 [GRCh38]
Chr14:51378470 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1828-2del deletion Glycogen storage disease, type VI [RCV000344617]|not provided [RCV000675364]|not specified [RCV000175039] Chr14:50911873 [GRCh38]
Chr14:51378591 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.2112T>C (p.Ala704=) single nucleotide variant Glycogen storage disease, type VI [RCV000264572]|not specified [RCV000175170] Chr14:50909960 [GRCh38]
Chr14:51376678 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.1648dup (p.Leu550fs) duplication not provided [RCV000174737] Chr14:50912275..50912276 [GRCh38]
Chr14:51378993..51378994 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1620+1G>C single nucleotide variant Glycogen storage disease, type VI [RCV001293797] Chr14:50913028 [GRCh38]
Chr14:51379746 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys) single nucleotide variant Glycogen storage disease, type VI [RCV001293798] Chr14:50944332 [GRCh38]
Chr14:51411050 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg) single nucleotide variant Glycogen storage disease, type VI [RCV001293800] Chr14:50910016 [GRCh38]
Chr14:51376734 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3 copy number gain See cases [RCV000140717] Chr14:39196172..56714461 [GRCh38]
Chr14:39665376..57181179 [GRCh37]
Chr14:38735127..56250932 [NCBI36]
Chr14:14q21.1-22.3
likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) duplication Glycogen storage disease, type VI [RCV000169673] Chr14:50944359..50944360 [GRCh38]
Chr14:51411077..51411078 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.848A>T (p.Asn283Ile) single nucleotide variant not provided [RCV000179851] Chr14:50920548 [GRCh38]
Chr14:51387266 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1621-6T>C single nucleotide variant Glycogen storage disease, type VI [RCV000350303]|not specified [RCV000246036] Chr14:50912309 [GRCh38]
Chr14:51379027 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.962G>A (p.Arg321His) single nucleotide variant Glycogen storage disease, type VI [RCV000355222]|not specified [RCV000248549] Chr14:50916999 [GRCh38]
Chr14:51383717 [GRCh37]
Chr14:14q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.2177+34T>C single nucleotide variant not specified [RCV000241599] Chr14:50909861 [GRCh38]
Chr14:51376579 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.2178-33dup duplication not provided [RCV000675361]|not specified [RCV000246591] Chr14:50908981..50908982 [GRCh38]
Chr14:51375699..51375700 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.772+16G>T single nucleotide variant Glycogen storage disease, type VI [RCV001515892]|not provided [RCV000675370]|not specified [RCV000249080] Chr14:50920940 [GRCh38]
Chr14:51387658 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.2380-41G>A single nucleotide variant not specified [RCV000251543] Chr14:50905597 [GRCh38]
Chr14:51372315 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.773-31T>C single nucleotide variant not specified [RCV000254033] Chr14:50920654 [GRCh38]
Chr14:51387372 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.2380-9T>C single nucleotide variant Glycogen storage disease, type VI [RCV001480901]|not provided [RCV000910745]|not specified [RCV000241938] Chr14:50905565 [GRCh38]
Chr14:51372283 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1020C>T (p.Asp340=) single nucleotide variant Glycogen storage disease, type VI [RCV000391914]|not provided [RCV000675367]|not specified [RCV000244397] Chr14:50916714 [GRCh38]
Chr14:51383432 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.1828-21G>A single nucleotide variant not provided [RCV000675365]|not specified [RCV000242129] Chr14:50911892 [GRCh38]
Chr14:51378610 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser) single nucleotide variant Glycogen storage disease, type VI [RCV000353747]|not provided [RCV000675360]|not specified [RCV000244701] Chr14:50905402 [GRCh38]
Chr14:51372120 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.424+6T>A single nucleotide variant Glycogen storage disease, type VI [RCV000271827]|not specified [RCV000249585] Chr14:50935101 [GRCh38]
Chr14:51401819 [GRCh37]
Chr14:14q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.529-22G>A single nucleotide variant not provided [RCV000675373]|not specified [RCV000252114] Chr14:50924122 [GRCh38]
Chr14:51390840 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.1119C>T (p.Phe373=) single nucleotide variant Glycogen storage disease, type VI [RCV000884222]|not specified [RCV000254548] Chr14:50915945 [GRCh38]
Chr14:51382663 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.93T>C (p.Ser31=) single nucleotide variant Glycogen storage disease, type VI [RCV000386035]|not provided [RCV000675375]|not specified [RCV000245225] Chr14:50944311 [GRCh38]
Chr14:51411029 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) single nucleotide variant Glycogen storage disease, type VI [RCV000556809]|not specified [RCV000247735] Chr14:50905520 [GRCh38]
Chr14:51372238 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.244-34G>A single nucleotide variant not specified [RCV000252685] Chr14:50937871 [GRCh38]
Chr14:51404589 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.2016C>T (p.Thr672=) single nucleotide variant Glycogen storage disease, type VI [RCV000324331]|not provided [RCV000675362]|not specified [RCV000250438] Chr14:50910056 [GRCh38]
Chr14:51376774 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) single nucleotide variant Glycogen storage disease, type VI [RCV001069939]|not specified [RCV000245720] Chr14:50915465 [GRCh38]
Chr14:51382183 [GRCh37]
Chr14:14q22.1
likely benign|uncertain significance
NM_002863.5(PYGL):c.1536T>C (p.Tyr512=) single nucleotide variant not specified [RCV000250677] Chr14:50913113 [GRCh38]
Chr14:51379831 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.664G>A (p.Val222Ile) single nucleotide variant Glycogen storage disease, type VI [RCV000268404]|not provided [RCV000675371]|not specified [RCV000244117] Chr14:50921064 [GRCh38]
Chr14:51387782 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.*11del deletion Glycogen storage disease, type VI [RCV000276048]|not provided [RCV000675358]|not specified [RCV000248244] Chr14:50905381 [GRCh38]
Chr14:51372099 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.*7G>C single nucleotide variant Glycogen storage disease, type VI [RCV000298304]|not provided [RCV000675359]|not specified [RCV000253228] Chr14:50905385 [GRCh38]
Chr14:51372103 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.773-13A>G single nucleotide variant Glycogen storage disease, type VI [RCV000301647] Chr14:50920636 [GRCh38]
Chr14:51387354 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys) single nucleotide variant Glycogen storage disease, type VI [RCV000325829]|not provided [RCV000761876]|not specified [RCV000595200] Chr14:50924018 [GRCh38]
Chr14:51390736 [GRCh37]
Chr14:14q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) single nucleotide variant Glycogen storage disease, type VI [RCV000289301] Chr14:50911815 [GRCh38]
Chr14:51378533 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) single nucleotide variant Glycogen storage disease, type VI [RCV000290727]|not provided [RCV000675366] Chr14:50912241 [GRCh38]
Chr14:51378959 [GRCh37]
Chr14:14q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.4(PYGL):c.-127A>G single nucleotide variant Glycogen storage disease, type VI [RCV000332559] Chr14:50944530 [GRCh38]
Chr14:51411248 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.-29A>C single nucleotide variant Glycogen storage disease, type VI [RCV000294119] Chr14:50944432 [GRCh38]
Chr14:51411150 [GRCh37]
Chr14:14q22.1
benign|uncertain significance
NM_002863.5(PYGL):c.691G>A (p.Val231Met) single nucleotide variant Glycogen storage disease, type VI [RCV000361092]|not provided [RCV000981721] Chr14:50921037 [GRCh38]
Chr14:51387755 [GRCh37]
Chr14:14q22.1
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln) single nucleotide variant Glycogen storage disease, type VI [RCV000296829] Chr14:50915868 [GRCh38]
Chr14:51382586 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.603G>T (p.Val201=) single nucleotide variant Glycogen storage disease, type VI [RCV000364145] Chr14:50924026 [GRCh38]
Chr14:51390744 [GRCh37]
Chr14:14q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.2481C>T (p.Asn827=) single nucleotide variant Glycogen storage disease, type VI [RCV000263586] Chr14:50905455 [GRCh38]
Chr14:51372173 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1519-15C>A single nucleotide variant Glycogen storage disease, type VI [RCV000391908] Chr14:50913145 [GRCh38]
Chr14:51379863 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met) single nucleotide variant Glycogen storage disease, type VI [RCV000378008] Chr14:50908918 [GRCh38]
Chr14:51375636 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) single nucleotide variant Glycogen storage disease, type VI [RCV000379057] Chr14:50911779 [GRCh38]
Chr14:51378497 [GRCh37]
Chr14:14q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln) single nucleotide variant Glycogen storage disease, type VI [RCV000404844] Chr14:50920563 [GRCh38]
Chr14:51387281 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) single nucleotide variant Glycogen storage disease, type VI [RCV000385175] Chr14:50912167 [GRCh38]
Chr14:51378885 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2380-15A>G single nucleotide variant Glycogen storage disease, type VI [RCV000318681] Chr14:50905571 [GRCh38]
Chr14:51372289 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.*129T>C single nucleotide variant Glycogen storage disease, type VI [RCV000370417] Chr14:50905263 [GRCh38]
Chr14:51371981 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1818del (p.Ile606fs) deletion not provided [RCV000523382] Chr14:50911987 [GRCh38]
Chr14:51378705 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp) single nucleotide variant Glycogen storage disease, type VI [RCV000300406] Chr14:50916730 [GRCh38]
Chr14:51383448 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) single nucleotide variant Glycogen storage disease, type VI [RCV000989223]|not provided [RCV000592955] Chr14:50921031 [GRCh38]
Chr14:51387749 [GRCh37]
Chr14:14q22.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1483C>T (p.Leu495Phe) single nucleotide variant not provided [RCV000597469] Chr14:50914736 [GRCh38]
Chr14:51381454 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)x3 copy number gain See cases [RCV000447838] Chr14:50598842..52261074 [GRCh37]
Chr14:14q21.3-22.1
uncertain significance
NM_002863.5(PYGL):c.1885G>T (p.Asp629Tyr) single nucleotide variant not provided [RCV000485266] Chr14:50911814 [GRCh38]
Chr14:51378532 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_002863.5(PYGL):c.345+10del deletion not provided [RCV000596987] Chr14:50937726 [GRCh38]
Chr14:51404444 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) single nucleotide variant Glycogen storage disease, type VI [RCV000625936] Chr14:50915919 [GRCh38]
Chr14:51382637 [GRCh37]
Chr14:14q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) single nucleotide variant Glycogen storage disease, type VI [RCV001087845]|not provided [RCV000675368] Chr14:50917033 [GRCh38]
Chr14:51383751 [GRCh37]
Chr14:14q22.1
benign|likely benign
NM_002863.5(PYGL):c.806A>G (p.Asp269Gly) single nucleotide variant not provided [RCV000675369] Chr14:50920590 [GRCh38]
Chr14:51387308 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.645G>C (p.Lys215Asn) single nucleotide variant not provided [RCV000675372] Chr14:50923984 [GRCh38]
Chr14:51390702 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.-31_-20GCAGCCCGCCGC[1] microsatellite not provided [RCV000675376] Chr14:50944411..50944422 [GRCh38]
Chr14:51411129..51411140 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.298_307del (p.Met100fs) deletion Glycogen storage disease, type VI [RCV000661963] Chr14:50937774..50937783 [GRCh38]
Chr14:51404492..51404501 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1126A>G (p.Thr376Ala) single nucleotide variant not provided [RCV000658693] Chr14:50915938 [GRCh38]
Chr14:51382656 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh37/hg19 14q22.1(chr14:50977957-51680043)x3 copy number gain not provided [RCV000683616] Chr14:50977957..51680043 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) single nucleotide variant Glycogen storage disease, type VI [RCV000697752] Chr14:50913067 [GRCh38]
Chr14:51379785 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) single nucleotide variant Glycogen storage disease, type VI [RCV000700937] Chr14:50914701 [GRCh38]
Chr14:51381419 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu) single nucleotide variant Glycogen storage disease, type VI [RCV000692848] Chr14:50915349 [GRCh38]
Chr14:51382067 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1828-9T>A single nucleotide variant Glycogen storage disease, type VI [RCV000695403] Chr14:50911880 [GRCh38]
Chr14:51378598 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn) single nucleotide variant Glycogen storage disease, type VI [RCV000705536] Chr14:50944363 [GRCh38]
Chr14:51411081 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr) single nucleotide variant Glycogen storage disease, type VI [RCV000691592] Chr14:50909962 [GRCh38]
Chr14:51376680 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_002863.5(PYGL):c.1266T>C (p.Asp422=) single nucleotide variant not provided [RCV000919459] Chr14:50915473 [GRCh38]
Chr14:51382191 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys) single nucleotide variant Glycogen storage disease, type VI [RCV000989224] Chr14:50944228 [GRCh38]
Chr14:51410946 [GRCh37]
Chr14:14q22.1
likely pathogenic
NC_000014.9:g.(?_50909875)_(50912323_?)del deletion Glycogen storage disease, type VI [RCV001032035] Chr14:51376593..51379041 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn) single nucleotide variant Glycogen storage disease, type VI [RCV001392683]|not provided [RCV000983969] Chr14:50914809 [GRCh38]
Chr14:51381527 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.132C>T (p.Arg44=) single nucleotide variant Glycogen storage disease, type VI [RCV000926557] Chr14:50944272 [GRCh38]
Chr14:51410990 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.2178-10T>A single nucleotide variant Glycogen storage disease, type VI [RCV000900729] Chr14:50908965 [GRCh38]
Chr14:51375683 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1728A>G (p.Arg576=) single nucleotide variant Glycogen storage disease, type VI [RCV000971861] Chr14:50912196 [GRCh38]
Chr14:51378914 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1620+10C>G single nucleotide variant Glycogen storage disease, type VI [RCV000971862] Chr14:50913019 [GRCh38]
Chr14:51379737 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1404-8A>G single nucleotide variant Glycogen storage disease, type VI [RCV000971863] Chr14:50914823 [GRCh38]
Chr14:51381541 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.690C>T (p.Pro230=) single nucleotide variant not provided [RCV000905683] Chr14:50921038 [GRCh38]
Chr14:51387756 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1824T>C (p.Gly608=) single nucleotide variant Glycogen storage disease, type VI [RCV000968782] Chr14:50911981 [GRCh38]
Chr14:51378699 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1620+1G>T single nucleotide variant Glycogen storage disease, type VI [RCV001053056] Chr14:50913028 [GRCh38]
Chr14:51379746 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter) single nucleotide variant Glycogen storage disease, type VI [RCV000779138] Chr14:50905469 [GRCh38]
Chr14:51372187 [GRCh37]
Chr14:14q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter) single nucleotide variant Glycogen storage disease, type VI [RCV000779139] Chr14:50912195 [GRCh38]
Chr14:51378913 [GRCh37]
Chr14:14q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.780del (p.Gly261fs) deletion Glycogen storage disease, type VI [RCV000779140] Chr14:50920616 [GRCh38]
Chr14:51387334 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.772+2_772+3del microsatellite Glycogen storage disease, type VI [RCV000799402] Chr14:50920953..50920954 [GRCh38]
Chr14:51387671..51387672 [GRCh37]
Chr14:14q22.1
likely pathogenic
NM_002863.5(PYGL):c.147C>T (p.Thr49=) single nucleotide variant Glycogen storage disease, type VI [RCV001113925]|not provided [RCV000883353] Chr14:50944257 [GRCh38]
Chr14:51410975 [GRCh37]
Chr14:14q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) single nucleotide variant Glycogen storage disease, type VI [RCV000809511] Chr14:50905510 [GRCh38]
Chr14:51372228 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile) single nucleotide variant Glycogen storage disease, type VI [RCV000810843] Chr14:50931752 [GRCh38]
Chr14:51398470 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys) single nucleotide variant Glycogen storage disease, type VI [RCV000794445] Chr14:50935167 [GRCh38]
Chr14:51401885 [GRCh37]
Chr14:14q22.1
likely benign|uncertain significance
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser) single nucleotide variant Glycogen storage disease, type VI [RCV000807606] Chr14:50935130 [GRCh38]
Chr14:51401848 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.772+1G>A single nucleotide variant Glycogen storage disease, type VI [RCV000797589] Chr14:50920955 [GRCh38]
Chr14:51387673 [GRCh37]
Chr14:14q22.1
likely pathogenic
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser) single nucleotide variant Glycogen storage disease, type VI [RCV000791512] Chr14:50908924 [GRCh38]
Chr14:51375642 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) single nucleotide variant Glycogen storage disease, type VI [RCV000811116] Chr14:50910001 [GRCh38]
Chr14:51376719 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg) single nucleotide variant Glycogen storage disease, type VI [RCV000792682] Chr14:50924070 [GRCh38]
Chr14:51390788 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1044T>G (p.Pro348=) single nucleotide variant not provided [RCV000914181] Chr14:50916690 [GRCh38]
Chr14:51383408 [GRCh37]
Chr14:14q22.1
likely benign
GRCh37/hg19 14q22.1(chr14:51357592-51951601)x3 copy number gain not provided [RCV000849899] Chr14:51357592..51951601 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala) single nucleotide variant Glycogen storage disease, type VI [RCV001210417] Chr14:50937798 [GRCh38]
Chr14:51404516 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2177+2T>C single nucleotide variant Glycogen storage disease, type VI [RCV001199242] Chr14:50909893 [GRCh38]
Chr14:51376611 [GRCh37]
Chr14:14q22.1
likely pathogenic
NM_002863.5(PYGL):c.728G>A (p.Arg243His) single nucleotide variant Glycogen storage disease, type VI [RCV001228479] Chr14:50921000 [GRCh38]
Chr14:51387718 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2178-4A>C single nucleotide variant not provided [RCV000974707] Chr14:50908959 [GRCh38]
Chr14:51375677 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.30G>A (p.Lys10=) single nucleotide variant not provided [RCV000923660] Chr14:50944374 [GRCh38]
Chr14:51411092 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1656G>A (p.Thr552=) single nucleotide variant Glycogen storage disease, type VI [RCV001492319]|not provided [RCV000932776] Chr14:50912268 [GRCh38]
Chr14:51378986 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr) single nucleotide variant Glycogen storage disease, type VI [RCV001231964] Chr14:50911868 [GRCh38]
Chr14:51378586 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser) single nucleotide variant Glycogen storage disease, type VI [RCV001112590] Chr14:50937771 [GRCh38]
Chr14:51404489 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser) single nucleotide variant Glycogen storage disease, type VI [RCV001043719] Chr14:50914765 [GRCh38]
Chr14:51381483 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2343T>C (p.Tyr781=) single nucleotide variant not provided [RCV000933705] Chr14:50908307 [GRCh38]
Chr14:51375025 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.772+5G>T single nucleotide variant Glycogen storage disease, type VI [RCV001044336] Chr14:50920951 [GRCh38]
Chr14:51387669 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1093-11C>G single nucleotide variant Glycogen storage disease, type VI [RCV001109808] Chr14:50915982 [GRCh38]
Chr14:51382700 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1063G>A (p.Val355Met) single nucleotide variant Glycogen storage disease, type VI [RCV001109810] Chr14:50916671 [GRCh38]
Chr14:51383389 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr) single nucleotide variant Glycogen storage disease, type VI [RCV001112589] Chr14:50937759 [GRCh38]
Chr14:51404477 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu) single nucleotide variant Glycogen storage disease, type VI [RCV001113835] Chr14:50915336 [GRCh38]
Chr14:51382054 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs) duplication Glycogen storage disease, type VI [RCV001047405] Chr14:50917046..50917047 [GRCh38]
Chr14:51383764..51383765 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1092+11T>G single nucleotide variant Glycogen storage disease, type VI [RCV001109809] Chr14:50916631 [GRCh38]
Chr14:51383349 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala) single nucleotide variant Glycogen storage disease, type VI [RCV001110597] Chr14:50917051 [GRCh38]
Chr14:51383769 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp) single nucleotide variant Glycogen storage disease, type VI [RCV001110598] Chr14:50920573 [GRCh38]
Chr14:51387291 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.772+14A>G single nucleotide variant Glycogen storage disease, type VI [RCV001110599] Chr14:50920942 [GRCh38]
Chr14:51387660 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.704T>C (p.Met235Thr) single nucleotide variant Glycogen storage disease, type VI [RCV001110600] Chr14:50921024 [GRCh38]
Chr14:51387742 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.369A>G (p.Leu123=) single nucleotide variant Glycogen storage disease, type VI [RCV001112587] Chr14:50935162 [GRCh38]
Chr14:51401880 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.360A>T (p.Ile120=) single nucleotide variant Glycogen storage disease, type VI [RCV001112588] Chr14:50935171 [GRCh38]
Chr14:51401889 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1969+1del deletion not provided [RCV001090533] Chr14:50911729 [GRCh38]
Chr14:51378447 [GRCh37]
Chr14:14q22.1
likely pathogenic
NM_002863.5(PYGL):c.188_189insGA (p.His63fs) insertion not provided [RCV001090534] Chr14:50944215..50944216 [GRCh38]
Chr14:51410933..51410934 [GRCh37]
Chr14:14q22.1
likely pathogenic
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro) single nucleotide variant Glycogen storage disease, type VI [RCV001218780] Chr14:50944388 [GRCh38]
Chr14:51411106 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.*78G>A single nucleotide variant Glycogen storage disease, type VI [RCV001112045] Chr14:50905314 [GRCh38]
Chr14:51372032 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1768+10C>T single nucleotide variant Glycogen storage disease, type VI [RCV001112492] Chr14:50912146 [GRCh38]
Chr14:51378864 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser) single nucleotide variant Glycogen storage disease, type VI [RCV001217010] Chr14:50944196 [GRCh38]
Chr14:51410914 [GRCh37]
Chr14:14q22.1
uncertain significance
GRCh37/hg19 14q21.3-22.1(chr14:50317272-51627752)x3 copy number gain not provided [RCV001006632] Chr14:50317272..51627752 [GRCh37]
Chr14:14q21.3-22.1
uncertain significance
NM_002863.5(PYGL):c.1617G>A (p.Lys539=) single nucleotide variant Glycogen storage disease, type VI [RCV001113834] Chr14:50913032 [GRCh38]
Chr14:51379750 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter) indel Glycogen storage disease, type VI [RCV001027704] Chr14:50931691..50931693 [GRCh38]
Chr14:51398409..51398411 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro) single nucleotide variant Glycogen storage disease, type VI [RCV001211148] Chr14:50915405 [GRCh38]
Chr14:51382123 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del) deletion Glycogen storage disease, type VI [RCV001304479] Chr14:50909984..50910010 [GRCh38]
Chr14:51376702..51376728 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.33dup (p.Arg12fs) duplication Glycogen storage disease, type VI [RCV001293799] Chr14:50944370..50944371 [GRCh38]
Chr14:51411088..51411089 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.993G>A (p.Pro331=) single nucleotide variant Glycogen storage disease, type VI [RCV001295349] Chr14:50916968 [GRCh38]
Chr14:51383686 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.298A>G (p.Met100Val) single nucleotide variant Glycogen storage disease, type VI [RCV001335985] Chr14:50937783 [GRCh38]
Chr14:51404501 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg) single nucleotide variant Glycogen storage disease, type VI [RCV001330994] Chr14:50909989 [GRCh38]
Chr14:51376707 [GRCh37]
Chr14:14q22.1
uncertain significance
NC_000014.8:g.(?_51372090)_(51411141_?)del deletion Glycogen storage disease, type VI [RCV001382632] Chr14:51372090..51411141 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.275T>C (p.Met92Thr) single nucleotide variant Glycogen storage disease, type VI [RCV001360716] Chr14:50937806 [GRCh38]
Chr14:51404524 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu) single nucleotide variant Glycogen storage disease, type VI [RCV001330996] Chr14:50920979 [GRCh38]
Chr14:51387697 [GRCh37]
Chr14:14q22.1
uncertain significance
Single allele single nucleotide variant not provided [RCV001528065] Chr14:50944631 [GRCh38]
Chr14:51411349 [GRCh37]
Chr14:14q22.1
benign
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile) single nucleotide variant Glycogen storage disease, type VI [RCV001362701] Chr14:50910006 [GRCh38]
Chr14:51376724 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile) single nucleotide variant Glycogen storage disease, type VI [RCV001342194] Chr14:50905396 [GRCh38]
Chr14:51372114 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys) single nucleotide variant Glycogen storage disease, type VI [RCV001327626] Chr14:50915905 [GRCh38]
Chr14:51382623 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.1748A>G (p.His583Arg) single nucleotide variant Glycogen storage disease, type VI [RCV001344263] Chr14:50912176 [GRCh38]
Chr14:51378894 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.528+2T>C single nucleotide variant Glycogen storage disease, type VI [RCV001330995] Chr14:50931671 [GRCh38]
Chr14:51398389 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.663G>A (p.Val221=) single nucleotide variant Glycogen storage disease, type VI [RCV001421198] Chr14:50921065 [GRCh38]
Chr14:51387783 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg) single nucleotide variant Glycogen storage disease, type VI [RCV001370202] Chr14:50923992 [GRCh38]
Chr14:51390710 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp) single nucleotide variant not provided [RCV001509452] Chr14:50931720 [GRCh38]
Chr14:51398438 [GRCh37]
Chr14:14q22.1
uncertain significance
NM_002863.5(PYGL):c.78A>G (p.Ala26=) single nucleotide variant Glycogen storage disease, type VI [RCV001436311] Chr14:50944326 [GRCh38]
Chr14:51411044 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1629G>A (p.Lys543=) single nucleotide variant Glycogen storage disease, type VI [RCV001487570] Chr14:50912295 [GRCh38]
Chr14:51379013 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.2358T>C (p.Asp786=) single nucleotide variant Glycogen storage disease, type VI [RCV001447028] Chr14:50908292 [GRCh38]
Chr14:51375010 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter) single nucleotide variant Glycogen storage disease, type VI [RCV001390321] Chr14:50912198 [GRCh38]
Chr14:51378916 [GRCh37]
Chr14:14q22.1
pathogenic
NM_002863.5(PYGL):c.1620+12A>T single nucleotide variant Glycogen storage disease, type VI [RCV001419201] Chr14:50913017 [GRCh38]
Chr14:51379735 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1995G>A (p.Glu665=) single nucleotide variant Glycogen storage disease, type VI [RCV001411286] Chr14:50910077 [GRCh38]
Chr14:51376795 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.696C>T (p.Pro232=) single nucleotide variant Glycogen storage disease, type VI [RCV001430039] Chr14:50921032 [GRCh38]
Chr14:51387750 [GRCh37]
Chr14:14q22.1
likely benign
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala) single nucleotide variant Glycogen storage disease, type VI [RCV001427807] Chr14:50910091 [GRCh38]
Chr14:51376809 [GRCh37]
Chr14:14q22.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9725 AgrOrtholog
COSMIC PYGL COSMIC
Ensembl Genes ENSG00000100504 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000216392 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431657 UniProtKB/TrEMBL
  ENSP00000443787 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216392 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532462 UniProtKB/TrEMBL
  ENST00000544180 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000100504 GTEx
HGNC ID HGNC:9725 ENTREZGENE
Human Proteome Map PYGL Human Proteome Map
InterPro Glycg_phsphrylas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_35 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyridoxal_P_attach_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5836 UniProtKB/Swiss-Prot
NCBI Gene 5836 ENTREZGENE
OMIM 232700 OMIM
  613741 OMIM
PANTHER PTHR11468 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phosphorylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34068 PharmGKB
PIRSF Pprylas_GlgP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PHOSPHORYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs P_ylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PK47_HUMAN UniProtKB/TrEMBL
  P06737 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6P1L4_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6NDQ4 UniProtKB/Swiss-Prot
  B4DUB7 UniProtKB/Swiss-Prot
  F5H816 UniProtKB/Swiss-Prot
  O60567 UniProtKB/Swiss-Prot
  O60752 UniProtKB/Swiss-Prot
  O60913 UniProtKB/Swiss-Prot
  Q501V9 UniProtKB/Swiss-Prot
  Q641R5 UniProtKB/Swiss-Prot
  Q96G82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-25 PYGL  glycogen phosphorylase L    phosphorylase, glycogen, liver  Symbol and/or name change 5135510 APPROVED