PGM1 (phosphoglucomutase 1) - Rat Genome Database

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Gene: PGM1 (phosphoglucomutase 1) Homo sapiens
Analyze
Symbol: PGM1
Name: phosphoglucomutase 1
RGD ID: 734179
HGNC Page HGNC:8905
Description: Enables magnesium ion binding activity and phosphoglucomutase activity. Involved in glucose metabolic process. Located in extracellular exosome. Implicated in congenital disorder of glycosylation It; endometrial cancer; and teratoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDG1T; glucose phosphomutase 1; GSD14; PGM 1; phosphoglucomutase-1
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
GRCh38163,593,411 - 63,660,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl163,593,411 - 63,660,245 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,059,082 - 64,125,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,831,535 - 63,898,504 (+)NCBINCBI36Build 36hg18NCBI36
Build 34163,770,967 - 63,837,935NCBI
Celera162,348,856 - 62,415,793 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef162,166,918 - 62,233,884 (+)NCBIHuRef
CHM1_1164,174,737 - 64,241,622 (+)NCBICHM1_1
T2T-CHM13v2.0163,469,205 - 63,536,042 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-naphthoflavone  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
capsaicin  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
coumarin  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
disodium selenite  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
gentamycin  (ISO)
hydralazine  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
linalool  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (EXP)
obeticholic acid  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
picoxystrobin  (EXP)
propiconazole  (ISO)
Propiverine  (ISO)
prostaglandin A1  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
tamoxifen  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Gene loss in human teratomas. Linder D, Proc Natl Acad Sci U S A. 1969 Jul;63(3):699-704.
4. Isoenzymes of hexokinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase and lactate dehydrogenase in uterine cancer. Marshall MJ, etal., Br J Cancer. 1979 Sep;40(3):380-90.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. A phylogenetic approach to the identification of phosphoglucomutase genes. Whitehouse DB, etal., Mol Biol Evol. 1998 Apr;15(4):456-62.
Additional References at PubMed
PMID:1530890   PMID:1602151   PMID:1840235   PMID:3159642   PMID:4517931   PMID:7902567   PMID:7902568   PMID:8257433   PMID:8586438   PMID:8631316   PMID:8894274   PMID:10441333  
PMID:11785295   PMID:11963573   PMID:12477932   PMID:12608294   PMID:12942785   PMID:15378030   PMID:15489334   PMID:15522220   PMID:16710414   PMID:18029348   PMID:18091362   PMID:18495743  
PMID:18854154   PMID:19056867   PMID:19377068   PMID:19430480   PMID:20301507   PMID:20378605   PMID:20379614   PMID:20562859   PMID:20800603   PMID:21044950   PMID:21665994   PMID:21832049  
PMID:21873635   PMID:22939629   PMID:22990118   PMID:23022198   PMID:23414517   PMID:23533145   PMID:24499211   PMID:24710276   PMID:24952355   PMID:25192599   PMID:25288802   PMID:25921289  
PMID:25940091   PMID:26344197   PMID:26465331   PMID:26768186   PMID:26972339   PMID:27342126   PMID:28117557   PMID:29676528   PMID:29858906   PMID:29872149   PMID:30089695   PMID:30122451  
PMID:30262252   PMID:30335765   PMID:30653357   PMID:30737079   PMID:30809309   PMID:31002879   PMID:31536960   PMID:31563034   PMID:31586073   PMID:31741433   PMID:32057119   PMID:32171858  
PMID:32221390   PMID:32614325   PMID:32898648   PMID:32994395   PMID:33342467   PMID:33845483   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35506765   PMID:35509820   PMID:35545034  
PMID:35831314  


Genomics

Comparative Map Data
PGM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,593,411 - 63,660,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl163,593,411 - 63,660,245 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,059,082 - 64,125,916 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,831,535 - 63,898,504 (+)NCBINCBI36Build 36hg18NCBI36
Build 34163,770,967 - 63,837,935NCBI
Celera162,348,856 - 62,415,793 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef162,166,918 - 62,233,884 (+)NCBIHuRef
CHM1_1164,174,737 - 64,241,622 (+)NCBICHM1_1
T2T-CHM13v2.0163,469,205 - 63,536,042 (+)NCBIT2T-CHM13v2.0
Pgm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39499,786,648 - 99,844,491 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl499,786,611 - 99,844,491 (+)EnsemblGRCm39 Ensembl
GRCm38499,929,451 - 99,987,294 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl499,929,414 - 99,987,294 (+)EnsemblGRCm38mm10GRCm38
MGSCv37499,602,056 - 99,659,899 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36499,427,439 - 99,485,223 (+)NCBIMGSCv36mm8
Celera498,273,961 - 98,332,209 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map445.71NCBI
Pgm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25114,595,298 - 114,654,728 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5114,595,293 - 114,654,728 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5117,151,682 - 117,211,109 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.05118,877,005 - 118,936,428 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.05118,939,539 - 118,998,971 (+)NCBIRnor_WKY
Rnor_6.05118,743,632 - 118,803,055 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5118,743,632 - 118,803,055 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05122,648,579 - 122,708,212 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45120,595,650 - 120,655,915 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5113,142,712 - 113,202,105 (+)NCBICelera
RH 3.4 Map5 RGD
Cytogenetic Map5q33NCBI
Pgm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542326,408,595 - 26,437,527 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542326,408,775 - 26,437,527 (-)NCBIChiLan1.0ChiLan1.0
PGM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1164,658,599 - 64,725,496 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,658,599 - 64,725,496 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0162,849,451 - 62,916,359 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PGM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1546,444,433 - 46,577,621 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl546,515,295 - 46,577,622 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha546,505,433 - 46,638,431 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0546,624,512 - 46,757,954 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl546,672,266 - 46,757,997 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1546,586,542 - 46,719,720 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0546,532,568 - 46,666,112 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0546,790,338 - 46,923,562 (-)NCBIUU_Cfam_GSD_1.0
Pgm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505876,845,424 - 76,905,846 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366921,160,623 - 1,221,746 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049366921,160,836 - 1,221,270 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PGM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6148,851,183 - 148,994,952 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16148,851,183 - 148,918,891 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26137,171,270 - 137,233,581 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PGM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12069,391,487 - 69,495,156 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2069,428,996 - 69,466,191 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603347,968,869 - 48,035,370 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pgm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474230,542,448 - 30,592,162 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474230,543,161 - 30,592,117 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PGM1
235 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1171
Count of miRNA genes:447
Interacting mature miRNAs:472
Transcripts:ENST00000371083, ENST00000371084, ENST00000473117, ENST00000483707, ENST00000540265
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
AL033854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,110,507 - 64,110,588UniSTSGRCh37
Build 36163,883,095 - 63,883,176RGDNCBI36
Celera162,400,415 - 62,400,496RGD
Cytogenetic Map1p31UniSTS
HuRef162,218,475 - 62,218,556UniSTS
G54079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,346 - 64,125,488UniSTSGRCh37
Build 36163,897,934 - 63,898,076RGDNCBI36
Celera162,415,223 - 62,415,365RGD
Cytogenetic Map1p31UniSTS
HuRef162,233,314 - 62,233,456UniSTS
GDB:277194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,504 - 64,125,812UniSTSGRCh37
Build 36163,898,092 - 63,898,400RGDNCBI36
Celera162,415,381 - 62,415,689RGD
Cytogenetic Map1p31UniSTS
HuRef162,233,472 - 62,233,780UniSTS
GDB:636868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,232 - 64,125,548UniSTSGRCh37
Build 36163,897,820 - 63,898,136RGDNCBI36
Celera162,415,109 - 62,415,425RGD
Cytogenetic Map1p31UniSTS
HuRef162,233,200 - 62,233,516UniSTS
SHGC-74929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,536 - 64,125,669UniSTSGRCh37
Build 36163,898,124 - 63,898,257RGDNCBI36
Celera162,415,413 - 62,415,546RGD
Cytogenetic Map1p31UniSTS
HuRef162,233,504 - 62,233,637UniSTS
GeneMap99-GB4 RH Map1173.06UniSTS
NCBI RH Map1422.0UniSTS
PGM1-2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,088,870 - 64,089,102UniSTSGRCh37
Build 36163,861,458 - 63,861,690RGDNCBI36
Celera162,378,777 - 62,379,009RGD
Cytogenetic Map1p31UniSTS
HuRef162,196,840 - 62,197,072UniSTS
PGM1_8539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,332 - 64,126,049UniSTSGRCh37
Build 36163,897,920 - 63,898,637RGDNCBI36
Celera162,415,209 - 62,415,926RGD
HuRef162,233,300 - 62,234,017UniSTS
WI-9183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,125,650 - 64,125,754UniSTSGRCh37
Build 36163,898,238 - 63,898,342RGDNCBI36
Celera162,415,527 - 62,415,631RGD
Cytogenetic Map1p31UniSTS
HuRef162,233,618 - 62,233,722UniSTS
GeneMap99-GB4 RH Map1171.74UniSTS
Whitehead-RH Map1200.7UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map1422.0UniSTS


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 3 3 3
Medium 2409 2759 1712 620 1740 461 4351 2121 3433 394 1368 1594 171 1202 2785 4
Low 28 232 14 3 203 4 3 73 299 25 92 19 4 1 2 2 1
Below cutoff 1 1 7 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ243265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC373587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000371083   ⟹   ENSP00000360124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,623,093 - 63,660,221 (+)Ensembl
RefSeq Acc Id: ENST00000371084   ⟹   ENSP00000360125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,593,411 - 63,660,245 (+)Ensembl
RefSeq Acc Id: ENST00000473117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,594,072 - 63,600,222 (+)Ensembl
RefSeq Acc Id: ENST00000483707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,651,355 - 63,654,445 (+)Ensembl
RefSeq Acc Id: ENST00000540265   ⟹   ENSP00000443449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,593,809 - 63,660,241 (+)Ensembl
RefSeq Acc Id: ENST00000650546   ⟹   ENSP00000497812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl163,593,411 - 63,660,209 (+)Ensembl
RefSeq Acc Id: NM_001172818   ⟹   NP_001166289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,623,216 - 63,660,245 (+)NCBI
GRCh37164,058,947 - 64,125,916 (+)ENTREZGENE
HuRef162,166,918 - 62,233,884 (+)ENTREZGENE
CHM1_1164,204,629 - 64,241,622 (+)NCBI
T2T-CHM13v2.0163,499,005 - 63,536,042 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172819   ⟹   NP_001166290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,593,809 - 63,660,245 (+)NCBI
GRCh37164,058,947 - 64,125,916 (+)ENTREZGENE
HuRef162,166,918 - 62,233,884 (+)ENTREZGENE
CHM1_1164,175,270 - 64,241,622 (+)NCBI
T2T-CHM13v2.0163,469,603 - 63,536,042 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002633   ⟹   NP_002624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,593,411 - 63,660,245 (+)NCBI
GRCh37164,058,947 - 64,125,916 (+)ENTREZGENE
Build 36163,831,535 - 63,898,504 (+)NCBI Archive
HuRef162,166,918 - 62,233,884 (+)ENTREZGENE
CHM1_1164,174,737 - 64,241,622 (+)NCBI
T2T-CHM13v2.0163,469,205 - 63,536,042 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002624   ⟸   NM_002633
- Peptide Label: isoform 1
- UniProtKB: Q9NTY4 (UniProtKB/Swiss-Prot),   P36871 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166290   ⟸   NM_001172819
- Peptide Label: isoform 3
- UniProtKB: P36871 (UniProtKB/Swiss-Prot),   B4DDQ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166289   ⟸   NM_001172818
- Peptide Label: isoform 2
- UniProtKB: P36871 (UniProtKB/Swiss-Prot),   B7Z6C2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360124   ⟸   ENST00000371083
RefSeq Acc Id: ENSP00000360125   ⟸   ENST00000371084
RefSeq Acc Id: ENSP00000497812   ⟸   ENST00000650546
RefSeq Acc Id: ENSP00000443449   ⟸   ENST00000540265
Protein Domains
PGM_PMM_I   PGM_PMM_II   PGM_PMM_III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36871-F1-model_v2 AlphaFold P36871 1-562 view protein structure

Promoters
RGD ID:6855754
Promoter ID:EPDNEW_H1042
Type:initiation region
Name:PGM1_1
Description:phosphoglucomutase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,593,411 - 63,593,471EPDNEW
RGD ID:6786233
Promoter ID:HG_KWN:3064
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:NM_001172819,   NM_002633,   OTTHUMT00000024870
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,831,296 - 63,832,327 (+)MPROMDB
RGD ID:6851790
Promoter ID:EP73700
Type:initiation region
Name:HS_PGM1
Description:Phosphoglucomutase 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36163,831,657 - 63,831,717EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000032991] Chr1:63654374 [GRCh38]
Chr1:64120045 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000014620] Chr1:63629521 [GRCh38]
Chr1:64095192 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.1145-1G>C single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000014621] Chr1:63648516 [GRCh38]
Chr1:64114187 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.1605G>C (p.Met535Ile) single nucleotide variant not provided [RCV000519210] Chr1:63659591 [GRCh38]
Chr1:64125262 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000032990] Chr1:63629539 [GRCh38]
Chr1:64095210 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000119799] Chr1:63654414 [GRCh38]
Chr1:64120085 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000119800] Chr1:63593600 [GRCh38]
Chr1:64059271 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.184G>C (p.Asp62His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000119801]|not provided [RCV000733693] Chr1:63593672 [GRCh38]
Chr1:64059343 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000119802] Chr1:63634933 [GRCh38]
Chr1:64100604 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.661del (p.Arg221fs) deletion PGM1-congenital disorder of glycosylation [RCV000119803] Chr1:63631760 [GRCh38]
Chr1:64097431 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 copy number loss See cases [RCV000139470] Chr1:53627272..64248854 [GRCh38]
Chr1:54092945..64714537 [GRCh37]
Chr1:53865533..64487125 [NCBI36]
Chr1:1p32.3-31.3
pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3
likely pathogenic
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) single nucleotide variant Congenital disorder of glycosylation [RCV000344895]|PGM1-congenital disorder of glycosylation [RCV000385150]|not provided [RCV000179849] Chr1:63638759 [GRCh38]
Chr1:64104430 [GRCh37]
Chr1:1p31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.1028+11C>A single nucleotide variant Congenital disorder of glycosylation [RCV000388782]|PGM1-congenital disorder of glycosylation [RCV000294565]|not specified [RCV000425152] Chr1:63636399 [GRCh38]
Chr1:64102070 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_002633.3(PGM1):c.1145-7C>G single nucleotide variant Congenital disorder of glycosylation [RCV000297943]|PGM1-congenital disorder of glycosylation [RCV000356985]|not provided [RCV000675305]|not specified [RCV000417895] Chr1:63648510 [GRCh38]
Chr1:64114181 [GRCh37]
Chr1:1p31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) single nucleotide variant Congenital disorder of glycosylation [RCV000329627]|PGM1-congenital disorder of glycosylation [RCV000274728] Chr1:63636345 [GRCh38]
Chr1:64102016 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) single nucleotide variant Congenital disorder of glycosylation [RCV000262214]|PGM1-congenital disorder of glycosylation [RCV000312744] Chr1:63648567 [GRCh38]
Chr1:64114238 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) single nucleotide variant Congenital disorder of glycosylation [RCV000284167]|PGM1-congenital disorder of glycosylation [RCV000383241] Chr1:63651788 [GRCh38]
Chr1:64117459 [GRCh37]
Chr1:1p31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.1464+14G>T single nucleotide variant Congenital disorder of glycosylation [RCV000285149]|PGM1-congenital disorder of glycosylation [RCV000335537]|not provided [RCV000675308]|not specified [RCV000429359] Chr1:63651866 [GRCh38]
Chr1:64117537 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1258T>C (p.Tyr420His) single nucleotide variant Congenital disorder of glycosylation [RCV000367456]|PGM1-congenital disorder of glycosylation [RCV000277905]|not provided [RCV000675306]|not specified [RCV000419125] Chr1:63648630 [GRCh38]
Chr1:64114301 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) single nucleotide variant Congenital disorder of glycosylation [RCV000304247]|PGM1-congenital disorder of glycosylation [RCV000267863] Chr1:63634854 [GRCh38]
Chr1:64100525 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) single nucleotide variant Congenital disorder of glycosylation [RCV000281994]|PGM1-congenital disorder of glycosylation [RCV000395325]|not provided [RCV000675309]|not specified [RCV000428999] Chr1:63654367 [GRCh38]
Chr1:64120038 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) single nucleotide variant Congenital disorder of glycosylation [RCV000269598]|PGM1-congenital disorder of glycosylation [RCV000328616] Chr1:63651724 [GRCh38]
Chr1:64117395 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_002633.3(PGM1):c.900T>C (p.His300=) single nucleotide variant Congenital disorder of glycosylation [RCV000319337]|PGM1-congenital disorder of glycosylation [RCV000373876]|not specified [RCV000445024] Chr1:63636260 [GRCh38]
Chr1:64101931 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) single nucleotide variant Congenital disorder of glycosylation [RCV000379588]|PGM1-congenital disorder of glycosylation [RCV000320467] Chr1:63651799 [GRCh38]
Chr1:64117470 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) single nucleotide variant Congenital disorder of glycosylation [RCV000340998]|PGM1-congenital disorder of glycosylation [RCV000290737]|not specified [RCV000239180] Chr1:63638763 [GRCh38]
Chr1:64104434 [GRCh37]
Chr1:1p31.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) single nucleotide variant Congenital disorder of glycosylation [RCV000306158]|PGM1-congenital disorder of glycosylation [RCV000397885] Chr1:63638799 [GRCh38]
Chr1:64104470 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1599+9C>T single nucleotide variant Congenital disorder of glycosylation [RCV000311236]|PGM1-congenital disorder of glycosylation [RCV000370734]|not provided [RCV000675311]|not specified [RCV000439238] Chr1:63654475 [GRCh38]
Chr1:64120146 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) single nucleotide variant Congenital disorder of glycosylation [RCV000401429]|PGM1-congenital disorder of glycosylation [RCV000336977]|not provided [RCV000675310]|not specified [RCV000441537] Chr1:63654368 [GRCh38]
Chr1:64120039 [GRCh37]
Chr1:1p31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002633.3(PGM1):c.1280+7C>T single nucleotide variant Congenital disorder of glycosylation [RCV000332888]|PGM1-congenital disorder of glycosylation [RCV000382749]|not provided [RCV000675307]|not specified [RCV000429994] Chr1:63648659 [GRCh38]
Chr1:64114330 [GRCh37]
Chr1:1p31.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) single nucleotide variant Congenital disorder of glycosylation [RCV000344184]|PGM1-congenital disorder of glycosylation [RCV000399244]|not provided [RCV000675302]|not specified [RCV000435068] Chr1:63631761 [GRCh38]
Chr1:64097432 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*93A>C single nucleotide variant Congenital disorder of glycosylation [RCV000322974]|PGM1-congenital disorder of glycosylation [RCV000267936]|not provided [RCV001711888] Chr1:63659768 [GRCh38]
Chr1:64125439 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*37G>A single nucleotide variant Congenital disorder of glycosylation [RCV000271623]|PGM1-congenital disorder of glycosylation [RCV000362631]|not provided [RCV001711887] Chr1:63659712 [GRCh38]
Chr1:64125383 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*130C>T single nucleotide variant Congenital disorder of glycosylation [RCV000372920]|PGM1-congenital disorder of glycosylation [RCV000278330]|not provided [RCV001711889] Chr1:63659805 [GRCh38]
Chr1:64125476 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*198C>T single nucleotide variant Congenital disorder of glycosylation [RCV000319415]|PGM1-congenital disorder of glycosylation [RCV000373952]|not provided [RCV001711890] Chr1:63659873 [GRCh38]
Chr1:64125544 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*72A>G single nucleotide variant Congenital disorder of glycosylation [RCV000358182]|PGM1-congenital disorder of glycosylation [RCV000322057] Chr1:63659747 [GRCh38]
Chr1:64125418 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.399T>C (p.Ile133=) single nucleotide variant Congenital disorder of glycosylation [RCV000292719]|PGM1-congenital disorder of glycosylation [RCV000349872]|not specified [RCV000430218] Chr1:63629577 [GRCh38]
Chr1:64095248 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*22C>T single nucleotide variant Congenital disorder of glycosylation [RCV000307972]|PGM1-congenital disorder of glycosylation [RCV000400984]|not provided [RCV000675313] Chr1:63659697 [GRCh38]
Chr1:64125368 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.*348G>A single nucleotide variant Congenital disorder of glycosylation [RCV000344806]|PGM1-congenital disorder of glycosylation [RCV000399811] Chr1:63660023 [GRCh38]
Chr1:64125694 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.*236T>C single nucleotide variant Congenital disorder of glycosylation [RCV000393276]|PGM1-congenital disorder of glycosylation [RCV000294501] Chr1:63659911 [GRCh38]
Chr1:64125582 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.420A>G (p.Pro140=) single nucleotide variant Congenital disorder of glycosylation [RCV000398517]|PGM1-congenital disorder of glycosylation [RCV000310353]|not specified [RCV000438626] Chr1:63629952 [GRCh38]
Chr1:64095623 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.262A>G (p.Ile88Val) single nucleotide variant Congenital disorder of glycosylation [RCV000389349]|PGM1-congenital disorder of glycosylation [RCV000350881]|not provided [RCV000675300]|not specified [RCV000425439] Chr1:63629440 [GRCh38]
Chr1:64095111 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.783C>T (p.His261=) single nucleotide variant Congenital disorder of glycosylation [RCV000259445]|PGM1-congenital disorder of glycosylation [RCV000354355] Chr1:63634929 [GRCh38]
Chr1:64100600 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) single nucleotide variant not provided [RCV000305843] Chr1:63648636 [GRCh38]
Chr1:64114307 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1600-3C>T single nucleotide variant not provided [RCV000341788]|not specified [RCV001820843] Chr1:63659583 [GRCh38]
Chr1:64125254 [GRCh37]
Chr1:1p31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) single nucleotide variant Congenital disorder of glycosylation [RCV000361654]|PGM1-congenital disorder of glycosylation [RCV000304587] Chr1:63634842 [GRCh38]
Chr1:64100513 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.*231C>T single nucleotide variant Congenital disorder of glycosylation [RCV000348511]|PGM1-congenital disorder of glycosylation [RCV000293488] Chr1:63659906 [GRCh38]
Chr1:64125577 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.*357A>G single nucleotide variant Congenital disorder of glycosylation [RCV000309884]|PGM1-congenital disorder of glycosylation [RCV000365393] Chr1:63660032 [GRCh38]
Chr1:64125703 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1144+10A>G single nucleotide variant Congenital disorder of glycosylation [RCV000342378]|PGM1-congenital disorder of glycosylation [RCV000402379]|not specified [RCV000606435] Chr1:63638810 [GRCh38]
Chr1:64104481 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_002633.3(PGM1):c.247-5C>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001099464] Chr1:63629420 [GRCh38]
Chr1:64095091 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.247-5810G>A single nucleotide variant not provided [RCV000578844] Chr1:63623615 [GRCh38]
Chr1:64089286 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000596556]|not provided [RCV000727046] Chr1:63631749 [GRCh38]
Chr1:64097420 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.741G>A (p.Ser247=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001101467]|not specified [RCV000604207] Chr1:63634887 [GRCh38]
Chr1:64100558 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_002633.3(PGM1):c.1600-524C>T single nucleotide variant not specified [RCV000600042] Chr1:63659062 [GRCh38]
Chr1:64124733 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.247-5801A>G single nucleotide variant not provided [RCV000591551] Chr1:63623624 [GRCh38]
Chr1:64089295 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1488T>C (p.Asp496=) single nucleotide variant not provided [RCV000416145] Chr1:63654355 [GRCh38]
Chr1:64120026 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000537665] Chr1:63636374 [GRCh38]
Chr1:64102045 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.1464+14G>A single nucleotide variant not specified [RCV000427199] Chr1:63651866 [GRCh38]
Chr1:64117537 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.264C>T (p.Ile88=) single nucleotide variant not specified [RCV000441441] Chr1:63629442 [GRCh38]
Chr1:64095113 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.735G>A (p.Ala245=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001392594]|not provided [RCV000872209]|not specified [RCV000445296] Chr1:63634881 [GRCh38]
Chr1:64100552 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1600-518C>T single nucleotide variant not specified [RCV000438412] Chr1:63659068 [GRCh38]
Chr1:64124739 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.249C>T (p.Ile83=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000915504]|not provided [RCV001532064] Chr1:63629427 [GRCh38]
Chr1:64095098 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.99C>T (p.Ala33=) single nucleotide variant not provided [RCV000675299] Chr1:63593587 [GRCh38]
Chr1:64059258 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1600-527C>T single nucleotide variant not specified [RCV000421963] Chr1:63659059 [GRCh38]
Chr1:64124730 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.18A>G (p.Thr6=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000872878]|not provided [RCV001697800] Chr1:63593506 [GRCh38]
Chr1:64059177 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.573G>A (p.Ser191=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000647743]|not provided [RCV001703663]|not specified [RCV001821168] Chr1:63631673 [GRCh38]
Chr1:64097344 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.1600-13_1600-12del deletion not specified [RCV000483953] Chr1:63659572..63659573 [GRCh38]
Chr1:64125243..64125244 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1465G>T (p.Gly489Cys) single nucleotide variant not provided [RCV000486117] Chr1:63654332 [GRCh38]
Chr1:64120003 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002633.3(PGM1):c.247-5664G>A single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001522981]|not provided [RCV000514450] Chr1:63623761 [GRCh38]
Chr1:64089432 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_002633.3(PGM1):c.963G>A (p.Pro321=) single nucleotide variant not specified [RCV000602807] Chr1:63636323 [GRCh38]
Chr1:64101994 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1515C>T (p.Ser505=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001407317]|not provided [RCV000599969] Chr1:63654382 [GRCh38]
Chr1:64120053 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1137C>T (p.Phe379=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002060654]|not provided [RCV000908291]|not specified [RCV000601452] Chr1:63638793 [GRCh38]
Chr1:64104464 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.-49C>G single nucleotide variant not specified [RCV000606072] Chr1:63593440 [GRCh38]
Chr1:64059111 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.200T>G (p.Met67Arg) single nucleotide variant not provided [RCV000596389] Chr1:63593688 [GRCh38]
Chr1:64059359 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.409+19T>G single nucleotide variant not specified [RCV000608592] Chr1:63629606 [GRCh38]
Chr1:64095277 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.294T>A (p.Ala98=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001476426]|not provided [RCV001719011] Chr1:63629472 [GRCh38]
Chr1:64095143 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.64C>T (p.Leu22=) single nucleotide variant not provided [RCV000980028]|not specified [RCV000607133] Chr1:63593552 [GRCh38]
Chr1:64059223 [GRCh37]
Chr1:1p31.3
likely benign
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NM_002633.3(PGM1):c.122A>G (p.Gln41Arg) single nucleotide variant not provided [RCV000596000] Chr1:63593610 [GRCh38]
Chr1:64059281 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1464+15G>A single nucleotide variant not specified [RCV000600127] Chr1:63651867 [GRCh38]
Chr1:64117538 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1600-23G>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001788319]|not provided [RCV000675312] Chr1:63659563 [GRCh38]
Chr1:64125234 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001371108]|not provided [RCV000675301] Chr1:63631672 [GRCh38]
Chr1:64097343 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.683-23_683-22delinsTT indel not provided [RCV000675303] Chr1:63634806..63634807 [GRCh38]
Chr1:64100477..64100478 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.683-22A>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001788318]|not provided [RCV000675304] Chr1:63634807 [GRCh38]
Chr1:64100478 [GRCh37]
Chr1:1p31.3
benign
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3 copy number gain not provided [RCV000684578] Chr1:62468555..65584629 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1 copy number loss not provided [RCV000684579] Chr1:62830524..65396403 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1091del (p.Asn364fs) deletion PGM1-congenital disorder of glycosylation [RCV000703389] Chr1:63638746 [GRCh38]
Chr1:64104417 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_002633.3(PGM1):c.1599+45G>A single nucleotide variant not provided [RCV001648536] Chr1:63654511 [GRCh38]
Chr1:64120182 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.556+288A>G single nucleotide variant not provided [RCV001583620] Chr1:63630376 [GRCh38]
Chr1:64096047 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1280+106G>T single nucleotide variant not provided [RCV001680932] Chr1:63648758 [GRCh38]
Chr1:64114429 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1551C>A (p.Tyr517Ter) single nucleotide variant not provided [RCV000760451] Chr1:63654418 [GRCh38]
Chr1:64120089 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002633.3(PGM1):c.246+312C>T single nucleotide variant not provided [RCV001550407] Chr1:63594046 [GRCh38]
Chr1:64059717 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.682+197G>A single nucleotide variant not provided [RCV001550836] Chr1:63631979 [GRCh38]
Chr1:64097650 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096005] Chr1:63638721 [GRCh38]
Chr1:64104392 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.*484G>C single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096124] Chr1:63660159 [GRCh38]
Chr1:64125830 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.247-6400T>A single nucleotide variant not provided [RCV001577351] Chr1:63623025 [GRCh38]
Chr1:64088696 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1029-101A>G single nucleotide variant not provided [RCV001546106] Chr1:63638584 [GRCh38]
Chr1:64104255 [GRCh37]
Chr1:1p31.3
likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_002633.3(PGM1):c.249C>A (p.Ile83=) single nucleotide variant not provided [RCV001567945] Chr1:63629427 [GRCh38]
Chr1:64095098 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.556+47G>C single nucleotide variant not provided [RCV001568732] Chr1:63630135 [GRCh38]
Chr1:64095806 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.216G>A (p.Gln72=) single nucleotide variant not provided [RCV000906949] Chr1:63593704 [GRCh38]
Chr1:64059375 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1257G>A (p.Lys419=) single nucleotide variant not provided [RCV000937267] Chr1:63648629 [GRCh38]
Chr1:64114300 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.159G>A (p.Gln53=) single nucleotide variant not provided [RCV000922487] Chr1:63593647 [GRCh38]
Chr1:64059318 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001060550] Chr1:63654363 [GRCh38]
Chr1:64120034 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001050922] Chr1:63659664 [GRCh38]
Chr1:64125335 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) duplication PGM1-congenital disorder of glycosylation [RCV000810297] Chr1:63638736..63638737 [GRCh38]
Chr1:64104407..64104408 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.105C>A (p.Tyr35Ter) single nucleotide variant PGM1-Related Disorders [RCV000778249] Chr1:63593593 [GRCh38]
Chr1:64059264 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.987C>T (p.Arg329=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000876492] Chr1:63636347 [GRCh38]
Chr1:64102018 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.247-7C>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000983511] Chr1:63629418 [GRCh38]
Chr1:64095089 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1028+10T>C single nucleotide variant not provided [RCV000925544] Chr1:63636398 [GRCh38]
Chr1:64102069 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.804T>A (p.Tyr268Ter) single nucleotide variant not provided [RCV001836907] Chr1:63634950 [GRCh38]
Chr1:64100621 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002633.3(PGM1):c.12C>A (p.Ile4=) single nucleotide variant not provided [RCV000873964] Chr1:63593500 [GRCh38]
Chr1:64059171 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001472393]|not provided [RCV000900961] Chr1:63651678 [GRCh38]
Chr1:64117349 [GRCh37]
Chr1:1p31.3
likely benign
NC_000001.11:g.63659563G>T single nucleotide variant not provided [RCV000835579] Chr1:64125234 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) deletion PGM1-congenital disorder of glycosylation [RCV000820907] Chr1:63593575..63593576 [GRCh38]
Chr1:64059246..64059247 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.247-6087T>G single nucleotide variant not provided [RCV000835667] Chr1:63623338 [GRCh38]
Chr1:64089009 [GRCh37]
Chr1:1p31.3
benign
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000801782]|not specified [RCV001816861] Chr1:63629431 [GRCh38]
Chr1:64095102 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.-41G>A single nucleotide variant not provided [RCV000827373] Chr1:63593448 [GRCh38]
Chr1:64059119 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) microsatellite Inborn genetic diseases [RCV001267112]|PGM1-congenital disorder of glycosylation [RCV000799107] Chr1:63651764..63651765 [GRCh38]
Chr1:64117435..64117436 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.1144+74T>C single nucleotide variant not provided [RCV000834926] Chr1:63638874 [GRCh38]
Chr1:64104545 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000985040] Chr1:63654410 [GRCh38]
Chr1:64120081 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.246+239C>G single nucleotide variant not provided [RCV000835574] Chr1:63593973 [GRCh38]
Chr1:64059644 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.247-54G>T single nucleotide variant not provided [RCV000835575] Chr1:63629371 [GRCh38]
Chr1:64095042 [GRCh37]
Chr1:1p31.3
benign
NC_000001.11:g.63634807A>T single nucleotide variant not provided [RCV000835576] Chr1:64100478 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.556+103G>A single nucleotide variant not provided [RCV000835577] Chr1:63630191 [GRCh38]
Chr1:64095862 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.247-6445A>G single nucleotide variant not provided [RCV000831731] Chr1:63622980 [GRCh38]
Chr1:64088651 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.*388T>G single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096121] Chr1:63660063 [GRCh38]
Chr1:64125734 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.556+216C>T single nucleotide variant not provided [RCV000829994] Chr1:63630304 [GRCh38]
Chr1:64095975 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.247-316G>A single nucleotide variant not provided [RCV000830347] Chr1:63629109 [GRCh38]
Chr1:64094780 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.74G>A (p.Arg25Gln) single nucleotide variant not provided [RCV000994022] Chr1:63593562 [GRCh38]
Chr1:64059233 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.*406T>C single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096122] Chr1:63660081 [GRCh38]
Chr1:64125752 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.-39C>G single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001097686] Chr1:63593450 [GRCh38]
Chr1:64059121 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1600-278G>T single nucleotide variant not provided [RCV000828738] Chr1:63659308 [GRCh38]
Chr1:64124979 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1028+55A>G single nucleotide variant not provided [RCV000835578] Chr1:63636443 [GRCh38]
Chr1:64102114 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV000916677] Chr1:63629974 [GRCh38]
Chr1:64095645 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity
NM_002633.3(PGM1):c.*484G>A single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096123] Chr1:63660159 [GRCh38]
Chr1:64125830 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001099573] Chr1:63654407 [GRCh38]
Chr1:64120078 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.138C>A (p.Thr46=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001206392] Chr1:63593626 [GRCh38]
Chr1:64059297 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.873+6T>C single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001198680] Chr1:63635025 [GRCh38]
Chr1:64100696 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1029-8C>G single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001096004] Chr1:63638677 [GRCh38]
Chr1:64104348 [GRCh37]
Chr1:1p31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_002633.3(PGM1):c.1552A>G (p.Ile518Val) single nucleotide variant not provided [RCV001200335] Chr1:63654419 [GRCh38]
Chr1:64120090 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.683-235C>G single nucleotide variant not provided [RCV001576176] Chr1:63634594 [GRCh38]
Chr1:64100265 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1028+211C>T single nucleotide variant not provided [RCV001582174] Chr1:63636599 [GRCh38]
Chr1:64102270 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1029-261T>C single nucleotide variant not provided [RCV001547686] Chr1:63638424 [GRCh38]
Chr1:64104095 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.682+297C>G single nucleotide variant not provided [RCV001570907] Chr1:63632079 [GRCh38]
Chr1:64097750 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.682+168A>G single nucleotide variant not provided [RCV001553094] Chr1:63631950 [GRCh38]
Chr1:64097621 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1600-136_1600-135del deletion not provided [RCV001617198] Chr1:63659450..63659451 [GRCh38]
Chr1:64125121..64125122 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.683-23C>T single nucleotide variant not provided [RCV001655022] Chr1:63634806 [GRCh38]
Chr1:64100477 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1029-188_1029-175del deletion not provided [RCV001671372] Chr1:63638496..63638509 [GRCh38]
Chr1:64104167..64104180 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.246+458T>A single nucleotide variant not provided [RCV001681055] Chr1:63594192 [GRCh38]
Chr1:64059863 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.246+320G>C single nucleotide variant not provided [RCV001584761] Chr1:63594054 [GRCh38]
Chr1:64059725 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1145-232A>T single nucleotide variant not provided [RCV001717982] Chr1:63648285 [GRCh38]
Chr1:64113956 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.556+77G>C single nucleotide variant not provided [RCV001674781] Chr1:63630165 [GRCh38]
Chr1:64095836 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.246+197C>T single nucleotide variant not provided [RCV001570690] Chr1:63593931 [GRCh38]
Chr1:64059602 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.57G>A (p.Thr19=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001475086]|not provided [RCV000915031] Chr1:63593545 [GRCh38]
Chr1:64059216 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) indel PGM1-congenital disorder of glycosylation [RCV001239446] Chr1:63593645..63593646 [GRCh38]
Chr1:64059316..64059317 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001221832] Chr1:63593666 [GRCh38]
Chr1:64059337 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.975G>T (p.Gln325His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001241701] Chr1:63636335 [GRCh38]
Chr1:64102006 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1599+322A>G single nucleotide variant not provided [RCV001596534] Chr1:63654788 [GRCh38]
Chr1:64120459 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.246+67C>T single nucleotide variant not provided [RCV001659282] Chr1:63593801 [GRCh38]
Chr1:64059472 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.556+177G>A single nucleotide variant not provided [RCV001569347] Chr1:63630265 [GRCh38]
Chr1:64095936 [GRCh37]
Chr1:1p31.3
likely benign
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Chromosome 1p32-p31 deletion syndrome [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3
pathogenic
NM_002633.3(PGM1):c.1144+236G>A single nucleotide variant not provided [RCV001719334] Chr1:63639036 [GRCh38]
Chr1:64104707 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1600-433A>T single nucleotide variant not provided [RCV001659290] Chr1:63659153 [GRCh38]
Chr1:64124824 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1464+215G>C single nucleotide variant not provided [RCV001677424] Chr1:63652067 [GRCh38]
Chr1:64117738 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1600-506C>T single nucleotide variant not provided [RCV001678112] Chr1:63659080 [GRCh38]
Chr1:64124751 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1465-102A>T single nucleotide variant not provided [RCV001718525] Chr1:63654230 [GRCh38]
Chr1:64119901 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.873+194A>G single nucleotide variant not provided [RCV001722076] Chr1:63635213 [GRCh38]
Chr1:64100884 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.873+191C>T single nucleotide variant not provided [RCV001638259] Chr1:63635210 [GRCh38]
Chr1:64100881 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1465-226T>C single nucleotide variant not provided [RCV001596302] Chr1:63654106 [GRCh38]
Chr1:64119777 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.827T>G (p.Met276Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001101468] Chr1:63634973 [GRCh38]
Chr1:64100644 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1600-427G>A single nucleotide variant not provided [RCV001609596] Chr1:63659159 [GRCh38]
Chr1:64124830 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1599+221T>C single nucleotide variant not provided [RCV001644269] Chr1:63654687 [GRCh38]
Chr1:64120358 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.683-291A>G single nucleotide variant not provided [RCV001590422] Chr1:63634538 [GRCh38]
Chr1:64100209 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.247-6436G>A single nucleotide variant not provided [RCV001680667] Chr1:63622989 [GRCh38]
Chr1:64088660 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1145-299T>C single nucleotide variant not provided [RCV001684641] Chr1:63648218 [GRCh38]
Chr1:64113889 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.246+88C>T single nucleotide variant not provided [RCV001587014] Chr1:63593822 [GRCh38]
Chr1:64059493 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1145-298G>A single nucleotide variant not provided [RCV001681561] Chr1:63648219 [GRCh38]
Chr1:64113890 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.246+547del deletion not provided [RCV001671718] Chr1:63594281 [GRCh38]
Chr1:64059952 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.327T>C (p.Ile109=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001099465] Chr1:63629505 [GRCh38]
Chr1:64095176 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001097687]|not provided [RCV001550409] Chr1:63593595 [GRCh38]
Chr1:64059266 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001097688] Chr1:63593648 [GRCh38]
Chr1:64059319 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001097689] Chr1:63593732 [GRCh38]
Chr1:64059403 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1311C>T (p.Gly437=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001097784] Chr1:63651699 [GRCh38]
Chr1:64117370 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001041624] Chr1:63629500 [GRCh38]
Chr1:64095171 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001365575]|not provided [RCV001090220] Chr1:63631750 [GRCh38]
Chr1:64097421 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001253738] Chr1:63654362 [GRCh38]
Chr1:64120033 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_002633.3(PGM1):c.1600-109T>G single nucleotide variant not provided [RCV001641612] Chr1:63659477 [GRCh38]
Chr1:64125148 [GRCh37]
Chr1:1p31.3
benign
GRCh37/hg19 1p31.3(chr1:64002855-64062235)x1 copy number loss not provided [RCV001259074] Chr1:64002855..64062235 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:64076769-64300916)x1 copy number loss not provided [RCV001259075] Chr1:64076769..64300916 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln) single nucleotide variant Inborn genetic diseases [RCV001267113] Chr1:63636238 [GRCh38]
Chr1:64101909 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001350730] Chr1:63648606 [GRCh38]
Chr1:64114277 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.247-5944G>A single nucleotide variant Congenital disorder of glycosylation type 1t [RCV001335960] Chr1:63623481 [GRCh38]
Chr1:64089152 [GRCh37]
Chr1:1p31.3
pathogenic
PGM1, ARG521TER single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001374709] Chr1:1p31.3 pathogenic
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001312968] Chr1:63629443 [GRCh38]
Chr1:64095114 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001323859] Chr1:63648585 [GRCh38]
Chr1:64114256 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001346141]|not provided [RCV001762586] Chr1:63654444 [GRCh38]
Chr1:64120115 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001314968] Chr1:63593675 [GRCh38]
Chr1:64059346 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.741G>C (p.Ser247=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001421717] Chr1:63634887 [GRCh38]
Chr1:64100558 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1464+215G>A single nucleotide variant not provided [RCV001527844] Chr1:63652067 [GRCh38]
Chr1:64117738 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1023G>A (p.Leu341=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001453974] Chr1:63636383 [GRCh38]
Chr1:64102054 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1029-49C>T single nucleotide variant not provided [RCV001665016] Chr1:63638636 [GRCh38]
Chr1:64104307 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1476C>T (p.Leu492=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001400857] Chr1:63654343 [GRCh38]
Chr1:64120014 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.988G>C (p.Gly330Arg) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001378469] Chr1:63636348 [GRCh38]
Chr1:64102019 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_002633.3(PGM1):c.1101C>T (p.Asp367=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001454610]|not specified [RCV001820145] Chr1:63638757 [GRCh38]
Chr1:64104428 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.410-120T>C single nucleotide variant not provided [RCV001651382] Chr1:63629822 [GRCh38]
Chr1:64095493 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1600-185T>C single nucleotide variant not provided [RCV001646041] Chr1:63659401 [GRCh38]
Chr1:64125072 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1465-106A>G single nucleotide variant not provided [RCV001671845] Chr1:63654226 [GRCh38]
Chr1:64119897 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1029-257A>G single nucleotide variant not provided [RCV001682120] Chr1:63638428 [GRCh38]
Chr1:64104099 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1206A>C (p.Leu402=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001489485] Chr1:63648578 [GRCh38]
Chr1:64114249 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1485A>G (p.Thr495=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001502622] Chr1:63654352 [GRCh38]
Chr1:64120023 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.247-5696A>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001400107]|not provided [RCV001581119]|not specified [RCV001820098] Chr1:63623729 [GRCh38]
Chr1:64089400 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_002633.3(PGM1):c.1281-2A>G single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001377288] Chr1:63651667 [GRCh38]
Chr1:64117338 [GRCh37]
Chr1:1p31.3
likely pathogenic
GRCh37/hg19 1p31.3(chr1:64102589-64190341)x1 copy number loss not provided [RCV001834288] Chr1:64102589..64190341 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.585T>G (p.Tyr195Ter) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001784825] Chr1:63631685 [GRCh38]
Chr1:64097356 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001885053]|not provided [RCV001771167] Chr1:63648532 [GRCh38]
Chr1:64114203 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.423del (p.Ala142fs) deletion PGM1-congenital disorder of glycosylation [RCV001733873] Chr1:63629954 [GRCh38]
Chr1:64095625 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.734C>T (p.Ala245Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002032757]|not provided [RCV001754428]|not specified [RCV001821975] Chr1:63634880 [GRCh38]
Chr1:64100551 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1324A>G (p.Met442Val) single nucleotide variant not provided [RCV001752473] Chr1:63651712 [GRCh38]
Chr1:64117383 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.246+515T>C single nucleotide variant not provided [RCV001787533] Chr1:63594249 [GRCh38]
Chr1:64059920 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1531_1532inv (p.Gly511Pro) inversion not specified [RCV001817834] Chr1:63654398..63654399 [GRCh38]
Chr1:64120069..64120070 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.254G>A (p.Arg85His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001929498] Chr1:63629432 [GRCh38]
Chr1:64095103 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001928847] Chr1:63593613 [GRCh38]
Chr1:64059284 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.76G>A (p.Val26Met) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001947869] Chr1:63593564 [GRCh38]
Chr1:64059235 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.199A>G (p.Met67Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001871276] Chr1:63593687 [GRCh38]
Chr1:64059358 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.929_930del (p.Val310fs) microsatellite PGM1-congenital disorder of glycosylation [RCV001895588] Chr1:63636287..63636288 [GRCh38]
Chr1:64101958..64101959 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001945542] Chr1:63631702 [GRCh38]
Chr1:64097373 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.216G>C (p.Gln72His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001911605] Chr1:63593704 [GRCh38]
Chr1:64059375 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3(chr1:64115978-64490352)x3 copy number gain not provided [RCV001836530] Chr1:64115978..64490352 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001944529] Chr1:63593643 [GRCh38]
Chr1:64059314 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001904562] Chr1:63654411 [GRCh38]
Chr1:64120082 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001962661] Chr1:63629496 [GRCh38]
Chr1:64095167 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001962188] Chr1:63629549 [GRCh38]
Chr1:64095220 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1474del (p.Leu492fs) deletion PGM1-congenital disorder of glycosylation [RCV001953214] Chr1:63654340 [GRCh38]
Chr1:64120011 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.529T>G (p.Leu177Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001951983] Chr1:63630061 [GRCh38]
Chr1:64095732 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.425C>T (p.Ala142Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001877760] Chr1:63629957 [GRCh38]
Chr1:64095628 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.409+6T>C single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002047727] Chr1:63629593 [GRCh38]
Chr1:64095264 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001918343] Chr1:63638704 [GRCh38]
Chr1:64104375 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001881912] Chr1:63648573 [GRCh38]
Chr1:64114244 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001960106] Chr1:63593579 [GRCh38]
Chr1:64059250 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001880797] Chr1:63638758 [GRCh38]
Chr1:64104429 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.986G>A (p.Arg329His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001938392] Chr1:63636346 [GRCh38]
Chr1:64102017 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001939897] Chr1:63636388 [GRCh38]
Chr1:64102059 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1355G>A (p.Arg452His) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV001925769] Chr1:63651743 [GRCh38]
Chr1:64117414 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002036593] Chr1:63651755 [GRCh38]
Chr1:64117426 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002015933] Chr1:63629534 [GRCh38]
Chr1:64095205 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_002633.3(PGM1):c.1668T>G (p.Thr556=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002106692] Chr1:63659654 [GRCh38]
Chr1:64125325 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1027C>T (p.Arg343Trp) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002129737] Chr1:63636387 [GRCh38]
Chr1:64102058 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1248T>C (p.His416=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002131932] Chr1:63648620 [GRCh38]
Chr1:64114291 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1145-6del deletion PGM1-congenital disorder of glycosylation [RCV002090560] Chr1:63648506 [GRCh38]
Chr1:64114177 [GRCh37]
Chr1:1p31.3
benign
NM_002633.3(PGM1):c.1170T>C (p.Asp390=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002132927] Chr1:63648542 [GRCh38]
Chr1:64114213 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.873+7A>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002182798] Chr1:63635026 [GRCh38]
Chr1:64100697 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1065C>T (p.Thr355=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002144011] Chr1:63638721 [GRCh38]
Chr1:64104392 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002176534] Chr1:63638760 [GRCh38]
Chr1:64104431 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.557-5C>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002155462] Chr1:63631652 [GRCh38]
Chr1:64097323 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1144+16G>A single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002099965] Chr1:63638816 [GRCh38]
Chr1:64104487 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.874-7C>T single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002183350] Chr1:63636227 [GRCh38]
Chr1:64101898 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) single nucleotide variant PGM1-congenital disorder of glycosylation [RCV002103246] Chr1:63659600 [GRCh38]
Chr1:64125271 [GRCh37]
Chr1:1p31.3
likely benign
NM_002633.3(PGM1):c.28_37del (p.Gln10fs) deletion not provided [RCV002262236] Chr1:63593513..63593522 [GRCh38]
Chr1:64059184..64059193 [GRCh37]
Chr1:1p31.3
pathogenic
NM_002633.3(PGM1):c.754G>C (p.Val252Leu) single nucleotide variant not provided [RCV002261805] Chr1:63634900 [GRCh38]
Chr1:64100571 [GRCh37]
Chr1:1p31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8905 AgrOrtholog
COSMIC PGM1 COSMIC
Ensembl Genes ENSG00000079739 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000360124 ENTREZGENE
  ENSP00000360124.4 UniProtKB/Swiss-Prot
  ENSP00000360125 ENTREZGENE
  ENSP00000360125.3 UniProtKB/Swiss-Prot
  ENSP00000443449 ENTREZGENE
  ENSP00000443449.1 UniProtKB/Swiss-Prot
  ENSP00000497812.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000371083 ENTREZGENE
  ENST00000371083.4 UniProtKB/Swiss-Prot
  ENST00000371084 ENTREZGENE
  ENST00000371084.8 UniProtKB/Swiss-Prot
  ENST00000540265 ENTREZGENE
  ENST00000540265.5 UniProtKB/Swiss-Prot
  ENST00000650546.1 UniProtKB/TrEMBL
GTEx ENSG00000079739 GTEx
HGNC ID HGNC:8905 ENTREZGENE
Human Proteome Map PGM1 Human Proteome Map
InterPro A-D-PHexomutase_a/b/a-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-D-PHexomutase_a/b/a-I/II/III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-D-PHexomutase_a/b/a-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-D-PHexomutase_a/b/a-III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-D-PHexomutase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-D-PHexomutase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-D-phosphohexomutase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5236 UniProtKB/Swiss-Prot
NCBI Gene 5236 ENTREZGENE
OMIM 171900 OMIM
  614921 OMIM
PANTHER PTHR22573 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PGM_PMM_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGM_PMM_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGM_PMM_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33242 PharmGKB
PRINTS PGMPMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PGM_PMM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53738 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55957 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ITK7_HUMAN UniProtKB/TrEMBL
  B4DDQ8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6C2 ENTREZGENE, UniProtKB/TrEMBL
  P36871 ENTREZGENE, UniProtKB/Swiss-Prot
  Q9H1D2_HUMAN UniProtKB/TrEMBL
  Q9NTY4 ENTREZGENE
UniProt Secondary B2R5N9 UniProtKB/Swiss-Prot
  B4DPV0 UniProtKB/Swiss-Prot
  Q16105 UniProtKB/Swiss-Prot
  Q16106 UniProtKB/Swiss-Prot
  Q5BKZ9 UniProtKB/Swiss-Prot
  Q6NW22 UniProtKB/Swiss-Prot
  Q86U74 UniProtKB/Swiss-Prot
  Q96J40 UniProtKB/Swiss-Prot
  Q9NTY4 UniProtKB/Swiss-Prot