GYG1 (glycogenin 1) - Rat Genome Database

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Gene: GYG1 (glycogenin 1) Homo sapiens
Analyze
Symbol: GYG1
Name: glycogenin 1
RGD ID: 1348748
HGNC Page HGNC
Description: Enables hexosyltransferase activity; manganese ion binding activity; and protein homodimerization activity. Involved in glycogen biosynthetic process. Located in membrane. Implicated in glycogen storage disease and glycogen storage disease XV.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycogenin glucosyltransferase; glycogenin-1; GN-1; GN1; GSD15; GYG
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GYG1P1   GYG1P2   GYG1P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3148,991,408 - 149,031,775 (+)EnsemblGRCh38hg38GRCh38
GRCh383148,991,515 - 149,031,775 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373148,709,327 - 148,749,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,192,065 - 150,228,109 (+)NCBINCBI36hg18NCBI36
Build 343150,192,072 - 150,228,117NCBI
Celera3147,119,449 - 147,155,731 (+)NCBI
Cytogenetic Map3q24NCBI
HuRef3146,081,276 - 146,117,422 (+)NCBIHuRef
CHM1_13148,671,929 - 148,708,500 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
glycogen biosynthetic process  (IBA,IEA,IMP,ISO,TAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1281472   PMID:2493642   PMID:8325847   PMID:8661012   PMID:9346895   PMID:9857012   PMID:10395894   PMID:10721716   PMID:10924520   PMID:11916970   PMID:12051921   PMID:12477932  
PMID:14984203   PMID:15489334   PMID:15860684   PMID:15870102   PMID:16189514   PMID:17055998   PMID:17311895   PMID:19946888   PMID:20357282   PMID:20562859   PMID:21873635   PMID:21988832  
PMID:22160680   PMID:22198226   PMID:23376485   PMID:23414517   PMID:24239874   PMID:25272951   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26652229   PMID:26673895   PMID:28330616  
PMID:28514442   PMID:29143313   PMID:29229926   PMID:29321365   PMID:30356213   PMID:31689353   PMID:31900314   PMID:32296183   PMID:33961781   PMID:33989636   PMID:34079125  


Genomics

Comparative Map Data
GYG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3148,991,408 - 149,031,775 (+)EnsemblGRCh38hg38GRCh38
GRCh383148,991,515 - 149,031,775 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373148,709,327 - 148,749,562 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363150,192,065 - 150,228,109 (+)NCBINCBI36hg18NCBI36
Build 343150,192,072 - 150,228,117NCBI
Celera3147,119,449 - 147,155,731 (+)NCBI
Cytogenetic Map3q24NCBI
HuRef3146,081,276 - 146,117,422 (+)NCBIHuRef
CHM1_13148,671,929 - 148,708,500 (+)NCBICHM1_1
Gyg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39320,176,247 - 20,209,281 (-)NCBIGRCm39mm39
GRCm39 Ensembl320,176,248 - 20,209,481 (-)Ensembl
GRCm38320,122,083 - 20,155,117 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl320,122,084 - 20,155,317 (-)EnsemblGRCm38mm10GRCm38
MGSCv37320,021,970 - 20,054,995 (-)NCBIGRCm37mm9NCBIm37
MGSCv36320,314,121 - 20,347,088 (-)NCBImm8
Celera320,111,292 - 20,144,314 (-)NCBICelera
Cytogenetic Map3A2NCBI
cM Map36.19NCBI
Gyg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22102,611,888 - 102,653,916 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl2102,598,496 - 102,653,797 (-)Ensembl
Rnor_6.02104,916,734 - 104,958,219 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2104,916,738 - 104,958,034 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02124,636,895 - 124,678,274 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42105,264,657 - 105,307,070 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12105,209,619 - 105,249,895 (-)NCBI
Celera297,981,791 - 98,022,289 (-)NCBICelera
Cytogenetic Map2q24NCBI
Gyg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554748,491,100 - 8,523,925 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554748,491,100 - 8,523,280 (-)NCBIChiLan1.0ChiLan1.0
GYG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13153,596,575 - 153,629,865 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3153,595,624 - 153,632,740 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03146,015,629 - 146,055,412 (+)NCBIMhudiblu_PPA_v0panPan3
GYG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12343,831,942 - 43,864,135 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2343,826,216 - 43,864,019 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2343,695,692 - 43,729,522 (+)NCBI
ROS_Cfam_1.02344,459,357 - 44,493,432 (+)NCBI
UMICH_Zoey_3.12344,047,650 - 44,081,705 (+)NCBI
UNSW_CanFamBas_1.02344,096,140 - 44,130,163 (+)NCBI
UU_Cfam_GSD_1.02344,350,195 - 44,384,262 (+)NCBI
Gyg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560283,120,550 - 83,151,704 (+)NCBI
SpeTri2.0NW_0049365196,582,286 - 6,613,440 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GYG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1389,221,149 - 89,259,815 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11389,221,086 - 89,259,569 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21397,219,130 - 97,253,063 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GYG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11541,678,619 - 41,715,311 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1541,679,319 - 41,715,251 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604114,520,986 - 14,558,247 (-)NCBIVero_WHO_p1.0
Gyg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473026,218,611 - 26,253,085 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
G59812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,745,100 - 148,745,291UniSTSGRCh37
Build 363150,227,790 - 150,227,981RGDNCBI36
Celera3147,155,375 - 147,155,566RGD
Cytogenetic Map3q24-q25.1UniSTS
HuRef3146,117,066 - 146,117,257UniSTS
TNG Radiation Hybrid Map383940.0UniSTS
D1S1761E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37155,688,511 - 55,688,640UniSTSGRCh37
Build 36155,461,099 - 55,461,228RGDNCBI36
Celera153,976,075 - 53,976,204RGD
Cytogenetic Map3q24-q25.1UniSTS
Cytogenetic Map1p32.3UniSTS
HuRef153,801,390 - 53,801,519UniSTS
STS-X79537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,745,064 - 148,745,215UniSTSGRCh37
Build 363150,227,754 - 150,227,905RGDNCBI36
Celera3147,155,339 - 147,155,490RGD
Cytogenetic Map3q24-q25.1UniSTS
HuRef3146,117,030 - 146,117,181UniSTS
GeneMap99-GB4 RH Map3542.29UniSTS
D3S4076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,745,035 - 148,745,147UniSTSGRCh37
Build 363150,227,725 - 150,227,837RGDNCBI36
Celera3147,155,310 - 147,155,422RGD
Cytogenetic Map3q24-q25.1UniSTS
HuRef3146,117,001 - 146,117,113UniSTS
GeneMap99-GB4 RH Map3534.81UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map31267.6UniSTS
GYG__6680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373148,744,704 - 148,745,427UniSTSGRCh37
Build 363150,227,394 - 150,228,117RGDNCBI36
Celera3147,154,979 - 147,155,702RGD
HuRef3146,116,670 - 146,117,393UniSTS
WI-19179  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q24-q25.1UniSTS
GeneMap99-GB4 RH Map3534.48UniSTS
Whitehead-RH Map3672.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2059
Count of miRNA genes:784
Interacting mature miRNAs:903
Transcripts:ENST00000296048, ENST00000345003, ENST00000461191, ENST00000465547, ENST00000469873, ENST00000473005, ENST00000478067, ENST00000479119, ENST00000483267, ENST00000484197, ENST00000488851, ENST00000492285, ENST00000497528
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 1 2
Medium 2399 2900 1433 345 1913 186 4312 2118 3429 377 1449 1601 175 1 1204 2779 4 2
Low 40 90 293 279 34 279 44 79 305 42 11 12 9 2
Below cutoff 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA191440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG702275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U31525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296048   ⟹   ENSP00000296048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,452 - 149,027,632 (+)Ensembl
RefSeq Acc Id: ENST00000345003   ⟹   ENSP00000340736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,540 - 149,031,775 (+)Ensembl
RefSeq Acc Id: ENST00000461191   ⟹   ENSP00000420247
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,572 - 149,024,253 (+)Ensembl
RefSeq Acc Id: ENST00000465547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,994,212 - 148,996,760 (+)Ensembl
RefSeq Acc Id: ENST00000469873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,008,881 - 149,024,234 (+)Ensembl
RefSeq Acc Id: ENST00000473005   ⟹   ENSP00000417671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,992,371 - 148,996,476 (+)Ensembl
RefSeq Acc Id: ENST00000478067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,540 - 148,996,847 (+)Ensembl
RefSeq Acc Id: ENST00000479119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,003,954 - 149,027,347 (+)Ensembl
RefSeq Acc Id: ENST00000483267   ⟹   ENSP00000419499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,512 - 149,024,255 (+)Ensembl
RefSeq Acc Id: ENST00000484197   ⟹   ENSP00000420683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,558 - 149,027,631 (+)Ensembl
RefSeq Acc Id: ENST00000488851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3149,000,934 - 149,008,276 (+)Ensembl
RefSeq Acc Id: ENST00000492285   ⟹   ENSP00000418297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,568 - 148,996,892 (+)Ensembl
RefSeq Acc Id: ENST00000497528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,996,831 - 149,009,389 (+)Ensembl
RefSeq Acc Id: ENST00000627418   ⟹   ENSP00000486061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3148,991,408 - 149,027,668 (+)Ensembl
RefSeq Acc Id: NM_001184720   ⟹   NP_001171649
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383148,991,540 - 149,031,775 (+)NCBI
GRCh373148,709,195 - 148,745,456 (+)ENTREZGENE
HuRef3146,081,276 - 146,117,422 (+)ENTREZGENE
CHM1_13148,671,929 - 148,708,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184721   ⟹   NP_001171650
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383148,991,540 - 149,031,775 (+)NCBI
GRCh373148,709,195 - 148,745,456 (+)ENTREZGENE
HuRef3146,081,276 - 146,117,422 (+)ENTREZGENE
CHM1_13148,671,929 - 148,708,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004130   ⟹   NP_004121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383148,991,540 - 149,031,775 (+)NCBI
GRCh373148,709,195 - 148,745,456 (+)ENTREZGENE
Build 363150,192,065 - 150,228,109 (+)NCBI Archive
HuRef3146,081,276 - 146,117,422 (+)ENTREZGENE
CHM1_13148,671,929 - 148,708,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006275   ⟹   XP_016861764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383148,991,515 - 149,027,632 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017006276   ⟹   XP_016861765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383149,000,654 - 149,027,632 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004121   ⟸   NM_004130
- Peptide Label: isoform 1
- UniProtKB: P46976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171649   ⟸   NM_001184720
- Peptide Label: isoform 2
- UniProtKB: P46976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171650   ⟸   NM_001184721
- Peptide Label: isoform 3
- UniProtKB: P46976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861764   ⟸   XM_017006275
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016861765   ⟸   XM_017006276
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000340736   ⟸   ENST00000345003
RefSeq Acc Id: ENSP00000418297   ⟸   ENST00000492285
RefSeq Acc Id: ENSP00000296048   ⟸   ENST00000296048
RefSeq Acc Id: ENSP00000486061   ⟸   ENST00000627418
RefSeq Acc Id: ENSP00000419499   ⟸   ENST00000483267
RefSeq Acc Id: ENSP00000420683   ⟸   ENST00000484197
RefSeq Acc Id: ENSP00000417671   ⟸   ENST00000473005
RefSeq Acc Id: ENSP00000420247   ⟸   ENST00000461191

Promoters
RGD ID:6865948
Promoter ID:EPDNEW_H6138
Type:initiation region
Name:GYG1_1
Description:glycogenin 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
GRCh383148,991,541 - 148,991,601EPDNEW
RGD ID:6801112
Promoter ID:HG_KWN:46429
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000353986,   NM_001184720,   NM_001184721,   NM_004130
Position:
Human AssemblyChrPosition (strand)Source
Build 363150,190,891 - 150,192,312 (+)MPROMDB
RGD ID:6851532
Promoter ID:EP73567
Type:initiation region
Name:HS_GYG
Description:Glycogenin.
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 363150,192,017 - 150,192,077EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GYG1, 1-BP DEL, 487G deletion Glycogen storage disease XV [RCV000006317] Chr3:3q24-q25.1 pathogenic
NM_004130.4(GYG1):c.248C>T (p.Thr83Met) single nucleotide variant Glycogen storage disease XV [RCV000006318] Chr3:148996406 [GRCh38]
Chr3:148714193 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln) single nucleotide variant Polyglucosan body myopathy 2 [RCV001197247] Chr3:149026835 [GRCh38]
Chr3:148744622 [GRCh37]
Chr3:3q24
uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1 copy number loss See cases [RCV000138135] Chr3:134257180..149729538 [GRCh38]
Chr3:133976022..149447325 [GRCh37]
Chr3:135458712..150930015 [NCBI36]
Chr3:3q22.2-25.1
pathogenic|likely benign
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter) single nucleotide variant Polyglucosan body myopathy 2 [RCV000150099] Chr3:149026850 [GRCh38]
Chr3:148744637 [GRCh37]
Chr3:3q24
pathogenic|not provided
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter) single nucleotide variant Polyglucosan body myopathy 2 [RCV000150101] Chr3:149024193 [GRCh38]
Chr3:148741980 [GRCh37]
Chr3:3q24
pathogenic|not provided
NM_004130.4(GYG1):c.487del (p.Asp163fs) deletion Glycogen storage disease XV [RCV001090152]|Polyglucosan body myopathy 2 [RCV000150102]|not provided [RCV000599598] Chr3:149009278 [GRCh38]
Chr3:148727065 [GRCh37]
Chr3:3q24
pathogenic|not provided
NM_004130.4(GYG1):c.143+3G>C single nucleotide variant Glycogen storage disease XV [RCV001054146]|Glycogen storage disease XV [RCV001090151]|Polyglucosan body myopathy 2 [RCV000150098]|not provided [RCV000387284] Chr3:148994280 [GRCh38]
Chr3:148712067 [GRCh37]
Chr3:3q24
pathogenic|not provided
NM_004130.4(GYG1):c.304G>C (p.Asp102His) single nucleotide variant Glycogen storage disease XV [RCV000703555]|Polyglucosan body myopathy 2 [RCV000150100]|not provided [RCV000413263]|not specified [RCV001195381] Chr3:148996462 [GRCh38]
Chr3:148714249 [GRCh37]
Chr3:3q24
pathogenic|likely pathogenic|uncertain significance|not provided
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
NM_004130.3(GYG1):c.248C>A (p.Thr83Lys) single nucleotide variant not provided [RCV000519762] Chr3:148996406 [GRCh38]
Chr3:148714193 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.481+149A>G single nucleotide variant not provided [RCV001574863] Chr3:148997053 [GRCh38]
Chr3:148714840 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2
pathogenic
NM_004130.4(GYG1):c.552G>A (p.Pro184=) single nucleotide variant Glycogen storage disease XV [RCV001520209]|not provided [RCV000675650]|not specified [RCV000435478] Chr3:149009346 [GRCh38]
Chr3:148727133 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.143+11C>T single nucleotide variant not specified [RCV000421949] Chr3:148994288 [GRCh38]
Chr3:148712075 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.608+14G>C single nucleotide variant not specified [RCV000443276] Chr3:149009416 [GRCh38]
Chr3:148727203 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.159A>G (p.Thr53=) single nucleotide variant Glycogen storage disease XV [RCV000536010]|not specified [RCV000443797] Chr3:148996317 [GRCh38]
Chr3:148714104 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys) single nucleotide variant Glycogen storage disease XV [RCV000910723]|not specified [RCV000426412] Chr3:148994271 [GRCh38]
Chr3:148712058 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.114C>T (p.Leu38=) single nucleotide variant Glycogen storage disease XV [RCV001520789]|not provided [RCV000675646]|not specified [RCV000433572] Chr3:148994248 [GRCh38]
Chr3:148712035 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.267C>T (p.Cys89=) single nucleotide variant not specified [RCV000437009] Chr3:148996425 [GRCh38]
Chr3:148714212 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.319-12C>T single nucleotide variant Glycogen storage disease XV [RCV001516244]|not provided [RCV000675649]|not specified [RCV000420211] Chr3:148996730 [GRCh38]
Chr3:148714517 [GRCh37]
Chr3:3q24
benign
NM_004130.3(GYG1):c.609G>A (p.Val203=) single nucleotide variant Glycogen storage disease XV [RCV000967717]|not provided [RCV001704276] Chr3:149024053 [GRCh38]
Chr3:148741840 [GRCh37]
Chr3:3q24
benign|likely benign
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
NM_004130.4(GYG1):c.78del (p.Lys27fs) deletion not provided [RCV000483737] Chr3:148994212 [GRCh38]
Chr3:148711999 [GRCh37]
Chr3:3q24
likely pathogenic
NM_004130.4(GYG1):c.-40del deletion not specified [RCV000485233] Chr3:148991600 [GRCh38]
Chr3:148709387 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_004130.4(GYG1):c.452A>T (p.His151Leu) single nucleotide variant Glycogen storage disease XV [RCV000652500]|not specified [RCV000612160] Chr3:148996875 [GRCh38]
Chr3:148714662 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.801C>A (p.Val267=) single nucleotide variant not provided [RCV001707826] Chr3:149024245 [GRCh38]
Chr3:148742032 [GRCh37]
Chr3:3q24
likely benign
NM_004130.3(GYG1):c.609-14C>T single nucleotide variant not specified [RCV000611243] Chr3:149024039 [GRCh38]
Chr3:148741826 [GRCh37]
Chr3:3q24
likely benign
NM_004130.3(GYG1):c.961C>T (p.Arg321Trp) single nucleotide variant Glycogen storage disease XV [RCV000652498] Chr3:149026841 [GRCh38]
Chr3:148744628 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys) single nucleotide variant Glycogen storage disease XV [RCV000652499]|not provided [RCV001532010] Chr3:148994232 [GRCh38]
Chr3:148712019 [GRCh37]
Chr3:3q24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004130.4(GYG1):c.897C>T (p.Ala299=) single nucleotide variant not specified [RCV000603524] Chr3:149026777 [GRCh38]
Chr3:148744564 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.829-23A>G single nucleotide variant not provided [RCV000675651] Chr3:149026429 [GRCh38]
Chr3:148744216 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe) single nucleotide variant Glycogen storage disease XV [RCV000700712] Chr3:149024262 [GRCh38]
Chr3:148742049 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) single nucleotide variant Glycogen storage disease XV [RCV000662151]|Polyglucosan body myopathy 2 [RCV000662152] Chr3:149026489 [GRCh38]
Chr3:148744276 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.319-19C>T single nucleotide variant not provided [RCV000675647] Chr3:148996723 [GRCh38]
Chr3:148714510 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.319-15C>T single nucleotide variant not provided [RCV000675648] Chr3:148996727 [GRCh38]
Chr3:148714514 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter) single nucleotide variant Glycogen storage disease XV [RCV000690080] Chr3:148996312 [GRCh38]
Chr3:148714099 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.608+256A>G single nucleotide variant not provided [RCV001574537] Chr3:149009658 [GRCh38]
Chr3:148727445 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
null single nucleotide variant not provided [RCV001583531] Chr3:149009691 [GRCh38]
Chr3:148727478 [GRCh37]
Chr3:3q24
likely benign
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) microsatellite not provided [RCV001643348] Chr3:148997055..148997056 [GRCh38]
Chr3:148714842..148714843 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.608+219G>T single nucleotide variant not provided [RCV001552048] Chr3:149009621 [GRCh38]
Chr3:148727408 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.201C>T (p.Gly67=) single nucleotide variant Glycogen storage disease XV [RCV001469280]|not provided [RCV000882327] Chr3:148996359 [GRCh38]
Chr3:148714146 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) single nucleotide variant Glycogen storage disease XV [RCV001054147] Chr3:149024263 [GRCh38]
Chr3:148742050 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.631del (p.Val211fs) deletion Glycogen storage disease XV [RCV001060726] Chr3:149024075 [GRCh38]
Chr3:148741862 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.7+1G>A single nucleotide variant Polyglucosan body myopathy 2 [RCV000825529] Chr3:148991648 [GRCh38]
Chr3:148709435 [GRCh37]
Chr3:3q24
likely pathogenic
NM_004130.4(GYG1):c.482-130G>A single nucleotide variant not provided [RCV000835529] Chr3:149009146 [GRCh38]
Chr3:148726933 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.608+247C>T single nucleotide variant not provided [RCV000841621] Chr3:149009649 [GRCh38]
Chr3:148727436 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.60G>A (p.Leu20=) single nucleotide variant not provided [RCV000842510] Chr3:148994194 [GRCh38]
Chr3:148711981 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp) single nucleotide variant Glycogen storage disease XV [RCV000800435]|not provided [RCV001091200] Chr3:148996862 [GRCh38]
Chr3:148714649 [GRCh37]
Chr3:3q24
uncertain significance
GRCh37/hg19 3q24-25.1(chr3:144053029-150272658)x1 copy number loss not provided [RCV001005476] Chr3:144053029..150272658 [GRCh37]
Chr3:3q24-25.1
likely pathogenic
NM_004130.4(GYG1):c.7+96C>G single nucleotide variant not provided [RCV000834875] Chr3:148991743 [GRCh38]
Chr3:148709530 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.482-96T>G single nucleotide variant not provided [RCV000834877] Chr3:149009180 [GRCh38]
Chr3:148726967 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.482-213_482-210del deletion not provided [RCV000839246] Chr3:149009061..149009064 [GRCh38]
Chr3:148726848..148726851 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.832dup (p.Ser278fs) duplication not provided [RCV001091201] Chr3:149026452..149026453 [GRCh38]
Chr3:148744239..148744240 [GRCh37]
Chr3:3q24
likely pathogenic
NM_004130.4(GYG1):c.609-131C>G single nucleotide variant not provided [RCV000837299] Chr3:149023922 [GRCh38]
Chr3:148741709 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.45C>T (p.Tyr15=) single nucleotide variant not provided [RCV000961477] Chr3:148994179 [GRCh38]
Chr3:148711966 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr) single nucleotide variant Glycogen storage disease XV [RCV000796254] Chr3:149024106 [GRCh38]
Chr3:148741893 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.7+316G>A single nucleotide variant not provided [RCV000831730] Chr3:148991963 [GRCh38]
Chr3:148709750 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.883G>A (p.Asp295Asn) single nucleotide variant Glycogen storage disease XV [RCV000803962] Chr3:149026763 [GRCh38]
Chr3:148744550 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.618A>G (p.Ala206=) single nucleotide variant not provided [RCV000942477] Chr3:149024062 [GRCh38]
Chr3:148741849 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.482-123C>T single nucleotide variant not provided [RCV000827627] Chr3:149009153 [GRCh38]
Chr3:148726940 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala) single nucleotide variant Glycogen storage disease XV [RCV001226674] Chr3:149026919 [GRCh38]
Chr3:148744706 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.329del (p.Asn110fs) deletion not provided [RCV001172156] Chr3:148996750 [GRCh38]
Chr3:148714537 [GRCh37]
Chr3:3q24
likely pathogenic
NM_004360.5(CDH1):c.49-8C>T deletion not provided [RCV001716817] Chr3:148994525 [GRCh38]
Chr3:148712312 [GRCh37]
Chr3:3q24
benign
Single allele single nucleotide variant not provided [RCV001549681] Chr3:148991479 [GRCh38]
Chr3:148709266 [GRCh37]
Chr3:3q24
likely benign
null single nucleotide variant not provided [RCV001619330] Chr3:148994468 [GRCh38]
Chr3:148712255 [GRCh37]
Chr3:3q24
benign
null microsatellite not provided [RCV001671841] Chr3:148997055..148997058 [GRCh38]
Chr3:148714842..148714845 [GRCh37]
Chr3:3q24
benign
null single nucleotide variant not provided [RCV001591981] Chr3:149009595 [GRCh38]
Chr3:148727382 [GRCh37]
Chr3:3q24
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001717581] Chr3:148997107 [GRCh38]
Chr3:148714894 [GRCh37]
Chr3:3q24
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, single nucleotide variant not provided [RCV001639838] Chr3:148991372 [GRCh38]
Chr3:148709159 [GRCh37]
Chr3:3q24
benign
NM_004360.5(CDH1):c.49-8C>T duplication not provided [RCV001718329] Chr3:149009158..149009159 [GRCh38]
Chr3:148726945..148726946 [GRCh37]
Chr3:3q24
benign
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, duplication not provided [RCV001640029] Chr3:149023888..149023889 [GRCh38]
Chr3:148741675..148741676 [GRCh37]
Chr3:3q24
benign
null single nucleotide variant not provided [RCV001670192] Chr3:148996238 [GRCh38]
Chr3:148714025 [GRCh37]
Chr3:3q24
benign
null single nucleotide variant not provided [RCV001689566] Chr3:149000300 [GRCh38]
Chr3:148718087 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.-73C>G single nucleotide variant not provided [RCV001552218] Chr3:148991568 [GRCh38]
Chr3:148709355 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) single nucleotide variant Glycogen storage disease XV [RCV001245239]|not provided [RCV001508506] Chr3:148994202 [GRCh38]
Chr3:148711989 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.300C>T (p.Phe100=) single nucleotide variant not provided [RCV000912600] Chr3:148996458 [GRCh38]
Chr3:148714245 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.481+151TG[18] microsatellite not provided [RCV001560391] Chr3:148997054..148997055 [GRCh38]
Chr3:148714841..148714842 [GRCh37]
Chr3:3q24
likely benign
Single allele insertion not provided [RCV001560425] Chr3:148991372..148991373 [GRCh38]
Chr3:148709159..148709160 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.143+111T>C single nucleotide variant not provided [RCV001560571] Chr3:148994388 [GRCh38]
Chr3:148712175 [GRCh37]
Chr3:3q24
likely benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) microsatellite not provided [RCV001677822] Chr3:148997054..148997055 [GRCh38]
Chr3:148714841..148714842 [GRCh37]
Chr3:3q24
benign
null single nucleotide variant not provided [RCV001663288] Chr3:148996273 [GRCh38]
Chr3:148714060 [GRCh37]
Chr3:3q24
likely benign
null microsatellite not provided [RCV001619733] Chr3:148997054..148997055 [GRCh38]
Chr3:148714841..148714842 [GRCh37]
Chr3:3q24
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) deletion not provided [RCV001677084] Chr3:148991090..148991101 [GRCh38]
Chr3:148708877..148708888 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.481+149del deletion not provided [RCV001548418] Chr3:148997053 [GRCh38]
Chr3:148714840 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
null single nucleotide variant not provided [RCV001588431] Chr3:149000235 [GRCh38]
Chr3:148718022 [GRCh37]
Chr3:3q24
likely benign
null single nucleotide variant not provided [RCV001669645] Chr3:148991537 [GRCh38]
Chr3:148709324 [GRCh37]
Chr3:3q24
benign
null duplication not provided [RCV001583708] Chr3:148991370..148991371 [GRCh38]
Chr3:148709157..148709158 [GRCh37]
Chr3:3q24
likely benign
null single nucleotide variant not provided [RCV001666543] Chr3:148997100 [GRCh38]
Chr3:148714887 [GRCh37]
Chr3:3q24
benign
null deletion not provided [RCV001588177] Chr3:148997052..148997056 [GRCh38]
Chr3:148714839..148714843 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.66G>A (p.Leu22=) single nucleotide variant Glycogen storage disease XV [RCV001204000] Chr3:148994200 [GRCh38]
Chr3:148711987 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe) single nucleotide variant Glycogen storage disease XV [RCV001342452] Chr3:149026495 [GRCh38]
Chr3:148744282 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.*23CA[3] microsatellite Polyglucosan body myopathy 2 [RCV001336117] Chr3:149026954..149026955 [GRCh38]
Chr3:148744741..148744742 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.758_761dup (p.Thr255fs) duplication Glycogen storage disease XV [RCV001329178] Chr3:149024201..149024202 [GRCh38]
Chr3:148741988..148741989 [GRCh37]
Chr3:3q24
pathogenic
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu) single nucleotide variant Glycogen storage disease XV [RCV001422455] Chr3:148996771 [GRCh38]
Chr3:148714558 [GRCh37]
Chr3:3q24
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys) single nucleotide variant Glycogen storage disease XV [RCV001349437] Chr3:148996364 [GRCh38]
Chr3:148714151 [GRCh37]
Chr3:3q24
uncertain significance
NM_004130.4(GYG1):c.7+8C>T single nucleotide variant Glycogen storage disease XV [RCV001455675] Chr3:148991655 [GRCh38]
Chr3:148709442 [GRCh37]
Chr3:3q24
likely benign
NM_004130.4(GYG1):c.1041T>A (p.Thr347=) single nucleotide variant Glycogen storage disease XV [RCV001513813]|not provided [RCV001576603] Chr3:149026921 [GRCh38]
Chr3:148744708 [GRCh37]
Chr3:3q24
benign|uncertain significance
NM_004130.4(GYG1):c.223A>G (p.Met75Val) single nucleotide variant not provided [RCV001508507] Chr3:148996381 [GRCh38]
Chr3:148714168 [GRCh37]
Chr3:3q24
uncertain significance
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) deletion not provided [RCV001650564] Chr3:149009159 [GRCh38]
Chr3:148726946 [GRCh37]
Chr3:3q24
benign
null single nucleotide variant not provided [RCV001588496] Chr3:148999960 [GRCh38]
Chr3:148717747 [GRCh37]
Chr3:3q24
likely benign
NM_004360.5(CDH1):c.49-8C>T single nucleotide variant not provided [RCV001715667] Chr3:148991343 [GRCh38]
Chr3:148709130 [GRCh37]
Chr3:3q24
benign
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr) single nucleotide variant Glycogen storage disease XV [RCV001436754] Chr3:149024211 [GRCh38]
Chr3:148741998 [GRCh37]
Chr3:3q24
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4699 AgrOrtholog
COSMIC GYG1 COSMIC
Ensembl Genes ENSG00000163754 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296048 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000340736 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000417671 UniProtKB/TrEMBL
  ENSP00000418297 UniProtKB/TrEMBL
  ENSP00000419499 UniProtKB/TrEMBL
  ENSP00000420247 UniProtKB/TrEMBL
  ENSP00000420683 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486061 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296048 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000345003 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000461191 UniProtKB/TrEMBL
  ENST00000473005 UniProtKB/TrEMBL
  ENST00000483267 UniProtKB/TrEMBL
  ENST00000484197 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000492285 UniProtKB/TrEMBL
  ENST00000627418 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163754 GTEx
HGNC ID HGNC:4699 ENTREZGENE
Human Proteome Map GYG1 Human Proteome Map
InterPro Glyco_trans_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2992 UniProtKB/Swiss-Prot
NCBI Gene 2992 ENTREZGENE
OMIM 603942 OMIM
  613507 OMIM
  616199 OMIM
Pfam Glyco_transf_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29077 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J7C7_HUMAN UniProtKB/TrEMBL
  C9J8R8_HUMAN UniProtKB/TrEMBL
  C9JQ42_HUMAN UniProtKB/TrEMBL
  G5E9W8_HUMAN UniProtKB/TrEMBL
  GLYG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N5Y3_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DNH0 UniProtKB/Swiss-Prot
  D3DNH1 UniProtKB/Swiss-Prot
  D3DNH2 UniProtKB/Swiss-Prot
  Q6FHZ1 UniProtKB/Swiss-Prot
  Q9UNV0 UniProtKB/Swiss-Prot