GYG2 (glycogenin 2) - Rat Genome Database

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Gene: GYG2 (glycogenin 2) Homo sapiens
Analyze
Symbol: GYG2
Name: glycogenin 2
RGD ID: 1344312
HGNC Page HGNC
Description: Exhibits glycogenin glucosyltransferase activity. Involved in glycogen biosynthetic process. Predicted to localize to cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycogenin glucosyltransferase; glycogenin-2; GN-2; GN2
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GYG2P1   GYG2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,828,822 - 2,882,820 (+)EnsemblGRCh38hg38GRCh38
GRCh38X2,828,712 - 2,882,820 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,746,971 - 2,800,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,756,863 - 2,810,861 (+)NCBINCBI36hg18NCBI36
Build 34X2,740,223 - 2,794,094NCBI
CeleraX7,027,258 - 7,081,096 (+)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX690,288 - 742,142 (+)NCBIHuRef
CHM1_1X2,778,078 - 2,832,061 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1281472   PMID:9346895   PMID:9691087   PMID:9857012   PMID:10721716   PMID:11840567   PMID:12051921   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16189514   PMID:18029348  
PMID:20098747   PMID:21832049   PMID:21873635   PMID:21988832   PMID:24239874   PMID:25751106   PMID:26186194   PMID:26344197   PMID:28453664   PMID:28514442  


Genomics

Comparative Map Data
GYG2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,828,822 - 2,882,820 (+)EnsemblGRCh38hg38GRCh38
GRCh38X2,828,712 - 2,882,820 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,746,971 - 2,800,859 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,756,863 - 2,810,861 (+)NCBINCBI36hg18NCBI36
Build 34X2,740,223 - 2,794,094NCBI
CeleraX7,027,258 - 7,081,096 (+)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX690,288 - 742,142 (+)NCBIHuRef
CHM1_1X2,778,078 - 2,832,061 (+)NCBICHM1_1
Gyg2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554991,700,205 - 1,739,916 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554991,700,858 - 1,737,893 (+)NCBIChiLan1.0ChiLan1.0
GYG2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X2,780,780 - 2,834,045 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX2,780,589 - 2,834,045 (+)Ensemblpanpan1.1panPan2
GYG2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X1,476,306 - 1,512,915 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX1,475,951 - 1,511,534 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX1,427,174 - 1,463,693 (+)NCBI
ROS_Cfam_1.0X1,400,389 - 1,436,719 (+)NCBI
UMICH_Zoey_3.1X1,391,087 - 1,427,600 (+)NCBI
UNSW_CanFamBas_1.0X1,407,530 - 1,444,060 (+)NCBI
UU_Cfam_GSD_1.0X1,443,899 - 1,480,465 (+)NCBI
Gyg2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953861,378 - 882,301 (+)NCBI
SpeTri2.0NW_0049366443,493,875 - 3,515,419 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GYG2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX52,170 - 89,412 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X52,310 - 89,412 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
GYG2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X1,034,693 - 1,087,982 (+)NCBI
ChlSab1.1 EnsemblX1,035,960 - 1,087,997 (+)Ensembl
Gyg2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248341,250,167 - 1,285,821 (+)NCBI

Position Markers
SHGC-37451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,789,279 - 2,789,428UniSTSGRCh37
Build 36X2,799,279 - 2,799,428RGDNCBI36
CeleraX7,069,540 - 7,069,689RGD
Cytogenetic MapXp22.3UniSTS
HuRefX730,585 - 730,734UniSTS
STS-Z40932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,800,754 - 2,800,843UniSTSGRCh37
Build 36X2,810,754 - 2,810,843RGDNCBI36
CeleraX7,080,989 - 7,081,078RGD
Cytogenetic MapXp22.3UniSTS
HuRefX742,035 - 742,124UniSTS
GeneMap99-GB4 RH MapX74.75UniSTS
RH70016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,795,337 - 2,795,464UniSTSGRCh37
Build 36X2,805,337 - 2,805,464RGDNCBI36
CeleraX7,075,574 - 7,075,701RGD
Cytogenetic MapXp22.3UniSTS
HuRefX736,619 - 736,746UniSTS
GeneMap99-GB4 RH MapX74.75UniSTS
G49430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,748,103 - 2,748,178UniSTSGRCh37
Build 36X2,758,103 - 2,758,178RGDNCBI36
CeleraX7,028,499 - 7,028,574RGD
Cytogenetic MapXp22.3UniSTS
HuRefX690,289 - 690,364UniSTS
G59898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,800,598 - 2,800,707UniSTSGRCh37
Build 36X2,810,598 - 2,810,707RGDNCBI36
CeleraX7,080,833 - 7,080,942RGD
Cytogenetic MapXp22.3UniSTS
HuRefX741,879 - 741,988UniSTS
WIAF-2180  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,800,578 - 2,800,707UniSTSGRCh37
Build 36X2,810,578 - 2,810,707RGDNCBI36
CeleraX7,080,813 - 7,080,942RGD
Cytogenetic MapXp22.3UniSTS
HuRefX741,859 - 741,988UniSTS
GeneMap99-GB4 RH MapX74.75UniSTS
GYG2__7558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,799,815 - 2,800,649UniSTSGRCh37
Build 36X2,809,815 - 2,810,649RGDNCBI36
CeleraX7,080,050 - 7,080,884RGD
HuRefX741,096 - 741,930UniSTS
RH65915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,789,203 - 2,789,341UniSTSGRCh37
Build 36X2,799,203 - 2,799,341RGDNCBI36
CeleraX7,069,464 - 7,069,602RGD
Cytogenetic MapXp22.3UniSTS
HuRefX730,509 - 730,647UniSTS
GeneMap99-GB4 RH MapX74.75UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5018
Count of miRNA genes:1143
Interacting mature miRNAs:1385
Transcripts:ENST00000338623, ENST00000353656, ENST00000381157, ENST00000381161, ENST00000381163, ENST00000398806, ENST00000453106, ENST00000469234, ENST00000520904, ENST00000542787
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 143 97 280 270 19 266 1065 64 751 41 285 96 6 1117 156 1
Low 2229 1514 1379 344 334 189 2500 1071 2941 256 1127 1288 161 87 1888 2
Below cutoff 38 1221 51 5 883 6 759 1021 18 63 22 169 1 721 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001184704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB410312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ424901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U94363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000353656   ⟹   ENSP00000487294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,830,189 - 2,881,213 (+)Ensembl
RefSeq Acc Id: ENST00000381157   ⟹   ENSP00000370549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,855,121 - 2,881,091 (+)Ensembl
RefSeq Acc Id: ENST00000381161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,828,914 - 2,882,817 (+)Ensembl
RefSeq Acc Id: ENST00000381163   ⟹   ENSP00000370555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,828,822 - 2,882,818 (+)Ensembl
RefSeq Acc Id: ENST00000398806   ⟹   ENSP00000381786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,828,930 - 2,882,818 (+)Ensembl
RefSeq Acc Id: ENST00000453106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,854,060 - 2,877,443 (+)Ensembl
RefSeq Acc Id: ENST00000469234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,830,061 - 2,856,623 (+)Ensembl
RefSeq Acc Id: ENST00000520904   ⟹   ENSP00000430764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,829,272 - 2,855,081 (+)Ensembl
RefSeq Acc Id: ENST00000639373   ⟹   ENSP00000491962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,842,991 - 2,882,820 (+)Ensembl
RefSeq Acc Id: NM_001079855   ⟹   NP_001073324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,930 - 2,882,818 (+)NCBI
GRCh37X2,746,863 - 2,800,861 (+)RGD
Build 36X2,756,863 - 2,810,861 (+)NCBI Archive
CeleraX7,027,258 - 7,081,096 (+)RGD
HuRefX690,288 - 742,142 (+)RGD
CHM1_1X2,778,078 - 2,832,061 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184702   ⟹   NP_001171631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,930 - 2,882,818 (+)NCBI
GRCh37X2,746,863 - 2,800,861 (+)RGD
CeleraX7,027,258 - 7,081,096 (+)RGD
HuRefX690,288 - 742,142 (+)RGD
CHM1_1X2,778,078 - 2,832,061 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184703   ⟹   NP_001171632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,930 - 2,882,818 (+)NCBI
GRCh37X2,746,863 - 2,800,861 (+)RGD
CeleraX7,027,258 - 7,081,096 (+)RGD
HuRefX690,288 - 742,142 (+)RGD
CHM1_1X2,778,078 - 2,832,061 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001184704   ⟹   NP_001171633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,930 - 2,882,818 (+)NCBI
GRCh37X2,746,863 - 2,800,861 (+)RGD
CeleraX7,027,258 - 7,081,096 (+)RGD
HuRefX690,288 - 742,142 (+)RGD
CHM1_1X2,778,078 - 2,832,061 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003918   ⟹   NP_003909
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,930 - 2,882,818 (+)NCBI
GRCh37X2,746,863 - 2,800,861 (+)RGD
Build 36X2,756,863 - 2,810,861 (+)NCBI Archive
CeleraX7,027,258 - 7,081,096 (+)RGD
HuRefX690,288 - 742,142 (+)RGD
CHM1_1X2,778,078 - 2,832,061 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545600   ⟹   XP_011543902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,829,270 - 2,882,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029927   ⟹   XP_016885416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,829,251 - 2,882,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029928   ⟹   XP_016885417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,829,008 - 2,882,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029929   ⟹   XP_016885418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,712 - 2,882,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029930   ⟹   XP_016885419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,914 - 2,882,820 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029931   ⟹   XP_016885420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,829,270 - 2,882,820 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001073324 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171631 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171632 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171633 (Get FASTA)   NCBI Sequence Viewer  
  NP_003909 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543902 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885416 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885417 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885418 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885419 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885420 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB84373 (Get FASTA)   NCBI Sequence Viewer  
  AAB84374 (Get FASTA)   NCBI Sequence Viewer  
  AAB84375 (Get FASTA)   NCBI Sequence Viewer  
  AAB84376 (Get FASTA)   NCBI Sequence Viewer  
  AAB84377 (Get FASTA)   NCBI Sequence Viewer  
  AAB84378 (Get FASTA)   NCBI Sequence Viewer  
  AAF61855 (Get FASTA)   NCBI Sequence Viewer  
  AAH23152 (Get FASTA)   NCBI Sequence Viewer  
  ABD83666 (Get FASTA)   NCBI Sequence Viewer  
  BAF85185 (Get FASTA)   NCBI Sequence Viewer  
  BAG53568 (Get FASTA)   NCBI Sequence Viewer  
  EAW98705 (Get FASTA)   NCBI Sequence Viewer  
  EAW98706 (Get FASTA)   NCBI Sequence Viewer  
  EAW98707 (Get FASTA)   NCBI Sequence Viewer  
  EAW98708 (Get FASTA)   NCBI Sequence Viewer  
  EAW98709 (Get FASTA)   NCBI Sequence Viewer  
  EAW98710 (Get FASTA)   NCBI Sequence Viewer  
  EAW98711 (Get FASTA)   NCBI Sequence Viewer  
  EAW98712 (Get FASTA)   NCBI Sequence Viewer  
  O15488 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001073324   ⟸   NM_001079855
- Peptide Label: isoform a
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003909   ⟸   NM_003918
- Peptide Label: isoform b
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171631   ⟸   NM_001184702
- Peptide Label: isoform c
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171632   ⟸   NM_001184703
- Peptide Label: isoform d
- UniProtKB: O15488 (UniProtKB/Swiss-Prot),   Q1ZYL7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001171633   ⟸   NM_001184704
- Peptide Label: isoform e
- UniProtKB: O15488 (UniProtKB/Swiss-Prot),   B3KUV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543902   ⟸   XM_011545600
- Peptide Label: isoform X3
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885418   ⟸   XM_017029929
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885419   ⟸   XM_017029930
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885417   ⟸   XM_017029928
- Peptide Label: isoform X1
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885416   ⟸   XM_017029927
- Peptide Label: isoform X1
- UniProtKB: O15488 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016885420   ⟸   XM_017029931
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000381786   ⟸   ENST00000398806
RefSeq Acc Id: ENSP00000491962   ⟸   ENST00000639373
RefSeq Acc Id: ENSP00000430764   ⟸   ENST00000520904
RefSeq Acc Id: ENSP00000487294   ⟸   ENST00000353656
RefSeq Acc Id: ENSP00000370549   ⟸   ENST00000381157
RefSeq Acc Id: ENSP00000370555   ⟸   ENST00000381163

Promoters
RGD ID:6808898
Promoter ID:HG_KWN:65859
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000398806,   NM_001184702,   NM_001184703,   NM_001184704,   NM_003918
Position:
Human AssemblyChrPosition (strand)Source
Build 36X2,756,666 - 2,757,166 (+)MPROMDB
RGD ID:13604648
Promoter ID:EPDNEW_H28508
Type:initiation region
Name:GYG2_1
Description:glycogenin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28509  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,784 - 2,828,844EPDNEW
RGD ID:13604652
Promoter ID:EPDNEW_H28509
Type:initiation region
Name:GYG2_2
Description:glycogenin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28508  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,828,936 - 2,828,996EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050371]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050371]|See cases [RCV000050371] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2782275-2904175)x0 copy number loss See cases [RCV000051381] ChrX:2782275..2904175 [GRCh38]
ChrX:2700316..2822216 [GRCh37]
ChrX:2710316..2832216 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 copy number loss See cases [RCV000051382] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2444467-2970550)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|See cases [RCV000052291] ChrX:2444467..2970550 [GRCh38]
ChrX:2362508..2888591 [GRCh37]
ChrX:2372508..2898591 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_001079855.2(GYG2):c.665G>C (p.Trp222Ser) single nucleotide variant not provided [RCV000144706] ChrX:2859893 [GRCh38]
ChrX:2777934 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x0 copy number loss See cases [RCV000050371] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:2705341..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x1 copy number loss See cases [RCV000134162] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:2705341..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:2790986-2884477)x2 copy number gain See cases [RCV000135047] ChrX:2790986..2884477 [GRCh38]
ChrX:2709027..2802518 [GRCh37]
ChrX:2719027..2812518 [NCBI36]
ChrX:Xp22.33
benign|likely benign|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x1 copy number loss See cases [RCV000135524] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2751384-3349640)x3 copy number gain See cases [RCV000136535] ChrX:2751384..3349640 [GRCh38]
ChrX:2669425..3267681 [GRCh37]
ChrX:2679425..3277681 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1 copy number loss See cases [RCV000136749] ChrX:2765636..6317066 [GRCh38]
ChrX:2683677..6235107 [GRCh37]
ChrX:2693677..6245107 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782275-3355873)x2 copy number gain See cases [RCV000137519] ChrX:2782275..3355873 [GRCh38]
ChrX:2700316..3273914 [GRCh37]
ChrX:2710316..3283914 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33(chrX:2823243-2881379)x2 copy number gain See cases [RCV000137209] ChrX:2823243..2881379 [GRCh38]
ChrX:2741284..2799420 [GRCh37]
ChrX:2751284..2809420 [NCBI36]
ChrX:Xp22.33
benign
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33(chrX:2308642-2854046)x3 copy number gain See cases [RCV000138252] ChrX:2308642..2854046 [GRCh38]
ChrX:2226683..2772087 [GRCh37]
ChrX:2236683..2782087 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2782275-2881379)x2 copy number gain See cases [RCV000139246] ChrX:2782275..2881379 [GRCh38]
ChrX:2700316..2799420 [GRCh37]
ChrX:2710316..2809420 [NCBI36]
ChrX:Xp22.33
benign
GRCh38/hg38 Xp22.33(chrX:2782275-2881379)x0 copy number loss See cases [RCV000139247] ChrX:2782275..2881379 [GRCh38]
ChrX:2700316..2799420 [GRCh37]
ChrX:2710316..2809420 [NCBI36]
ChrX:Xp22.33
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0 copy number loss See cases [RCV000138953] ChrX:1718254..3700497 [GRCh38]
ChrX:1837147..3618538 [GRCh37]
ChrX:1797147..3628538 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-2881385)x2 copy number gain See cases [RCV000139483] ChrX:2782037..2881385 [GRCh38]
ChrX:2700078..2799426 [GRCh37]
ChrX:2710078..2809426 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-3306245)x2 copy number gain See cases [RCV000142994] ChrX:2782037..3306245 [GRCh38]
ChrX:2700078..3224286 [GRCh37]
ChrX:2710078..3234286 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2790845-6495923)x0 copy number loss See cases [RCV000142746] ChrX:2790845..6495923 [GRCh38]
ChrX:2708886..6413964 [GRCh37]
ChrX:2718886..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 copy number loss See cases [RCV000148173] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079855.2(GYG2):c.340G>A (p.Asp114Asn) single nucleotide variant Abnormality of neuronal migration [RCV000201375] ChrX:2855008 [GRCh38]
ChrX:2773049 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2673846-2884527)x1 copy number loss Premature ovarian failure [RCV000225307] ChrX:2673846..2884527 [GRCh38]
ChrX:2591887..2802568 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2576743-2951072)x3 copy number gain See cases [RCV000239940] ChrX:2576743..2951072 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:71267-3248235)x1 copy number loss See cases [RCV000240278] ChrX:71267..3248235 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079855.2(GYG2):c.820G>A (p.Ala274Thr) single nucleotide variant not provided [RCV000489105] ChrX:2860048 [GRCh38]
ChrX:2778089 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2 copy number gain Hypoplastic left heart syndrome [RCV001251055] ChrX:2766830..2920785 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_001079855.2(GYG2):c.1039-15C>T single nucleotide variant not specified [RCV000605430] ChrX:2875795 [GRCh38]
ChrX:2793836 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2937367)x2 copy number gain See cases [RCV000446803] ChrX:2707626..2937367 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2802518)x2 copy number gain See cases [RCV000446262] ChrX:2707626..2802518 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2802518)x0 copy number loss See cases [RCV000447199] ChrX:2707626..2802518 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.845A>G (p.His282Arg) single nucleotide variant not specified [RCV000441321] ChrX:2861529 [GRCh38]
ChrX:2779570 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079855.2(GYG2):c.149+17C>T single nucleotide variant not specified [RCV000434782] ChrX:2843371 [GRCh38]
ChrX:2761412 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079855.2(GYG2):c.8-204C>T single nucleotide variant not specified [RCV000418203] ChrX:2843009 [GRCh38]
ChrX:2761050 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.1099C>A (p.Pro367Thr) single nucleotide variant not provided [RCV000965513]|not specified [RCV000431621] ChrX:2875870 [GRCh38]
ChrX:2793911 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.1277A>G (p.Gln426Arg) single nucleotide variant not specified [RCV000418312] ChrX:2881077 [GRCh38]
ChrX:2799118 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.345G>A (p.Glu115=) single nucleotide variant not specified [RCV000435046] ChrX:2855013 [GRCh38]
ChrX:2773054 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.7+17G>C single nucleotide variant not specified [RCV000424770] ChrX:2830212 [GRCh38]
ChrX:2748253 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.819C>T (p.Arg273=) single nucleotide variant not specified [RCV000418845] ChrX:2860047 [GRCh38]
ChrX:2778088 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.1024C>T (p.Arg342Cys) single nucleotide variant not specified [RCV000418898] ChrX:2861708 [GRCh38]
ChrX:2779749 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.799G>A (p.Val267Ile) single nucleotide variant not specified [RCV000432026] ChrX:2860027 [GRCh38]
ChrX:2778068 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.31C>T (p.Leu11=) single nucleotide variant not specified [RCV000439324] ChrX:2843236 [GRCh38]
ChrX:2761277 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.-129+9G>C single nucleotide variant not specified [RCV000429657] ChrX:2828984 [GRCh38]
ChrX:2747025 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.-23C>G single nucleotide variant not specified [RCV000443938] ChrX:2830166 [GRCh38]
ChrX:2748207 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.558G>A (p.Pro186=) single nucleotide variant not specified [RCV000422940] ChrX:2856568 [GRCh38]
ChrX:2774609 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.870G>A (p.Ala290=) single nucleotide variant not provided [RCV000968801]|not specified [RCV000426596] ChrX:2861554 [GRCh38]
ChrX:2779595 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.1139T>C (p.Ile380Thr) single nucleotide variant not specified [RCV000433544] ChrX:2875910 [GRCh38]
ChrX:2793951 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.716C>T (p.Ala239Val) single nucleotide variant not specified [RCV000430610] ChrX:2859944 [GRCh38]
ChrX:2777985 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2233394-3553923)x1 copy number loss See cases [RCV000448895] ChrX:2233394..3553923 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2703632-3085643)x2 copy number gain See cases [RCV000448956] ChrX:2703632..3085643 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2946211)x3 copy number gain See cases [RCV000512044] ChrX:168546..2946211 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33(chrX:2746025-2799731)x1 copy number loss Leigh syndrome [RCV000509460] ChrX:2746025..2799731 [GRCh37]
ChrX:Xp22.33
not provided
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
NM_001079855.2(GYG2):c.355A>G (p.Arg119Gly) single nucleotide variant not provided [RCV000494536] ChrX:2855023 [GRCh38]
ChrX:2773064 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:168547-3880686)x0 copy number loss See cases [RCV000511695] ChrX:168547..3880686 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0 copy number loss See cases [RCV000511728] ChrX:168546..3259868 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7721374)x1 copy number loss See cases [RCV000511828] ChrX:168546..7721374 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5896155)x1 copy number loss See cases [RCV000510877] ChrX:168546..5896155 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33(chrX:2465155-3008237)x3 copy number gain See cases [RCV000511030] ChrX:2465155..3008237 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001079855.2(GYG2):c.615-8C>T single nucleotide variant not specified [RCV000612111] ChrX:2859835 [GRCh38]
ChrX:2777876 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.-49C>T single nucleotide variant not specified [RCV000612494] ChrX:2830140 [GRCh38]
ChrX:2748181 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.1350C>G (p.Ile450Met) single nucleotide variant not specified [RCV000616097] ChrX:2881150 [GRCh38]
ChrX:2799191 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.-129+10G>C single nucleotide variant not specified [RCV000614671] ChrX:2828985 [GRCh38]
ChrX:2747026 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.1189G>C (p.Glu397Gln) single nucleotide variant not specified [RCV000604361] ChrX:2877245 [GRCh38]
ChrX:2795286 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.8-109C>T single nucleotide variant not specified [RCV000605026] ChrX:2843104 [GRCh38]
ChrX:2761145 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33(chrX:2566001-2842587)x3 copy number gain not provided [RCV000684234] ChrX:2566001..2842587 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1 copy number loss not provided [RCV000684235] ChrX:2703822..4472534 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2700157-2794461)x1 copy number loss not provided [RCV000753309] ChrX:2700157..2794461 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33(chrX:2703633-2803276)x1 copy number loss not provided [RCV000753313] ChrX:2703633..2803276 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:2568904-2904328)x3 copy number gain not provided [RCV000753308] ChrX:2568904..2904328 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2700157-2811185)x2 copy number gain not provided [RCV000753310] ChrX:2700157..2811185 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2700157-3183507)x2 copy number gain not provided [RCV000753311] ChrX:2700157..3183507 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0 copy number loss not provided [RCV001007203] ChrX:168546..5723788 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0 copy number loss not provided [RCV001007199] ChrX:168546..3265521 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_001079855.2(GYG2):c.40A>C (p.Asn14His) single nucleotide variant not provided [RCV000898565] ChrX:2843245 [GRCh38]
ChrX:2761286 [GRCh37]
ChrX:Xp22.33
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001079855.2(GYG2):c.325-214A>G single nucleotide variant not provided [RCV000832343] ChrX:2854779 [GRCh38]
ChrX:2772820 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.1003A>T (p.Thr335Ser) single nucleotide variant not provided [RCV000999308] ChrX:2861687 [GRCh38]
ChrX:2779728 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_001079855.2(GYG2):c.-129+14T>C single nucleotide variant not provided [RCV000836805] ChrX:2828989 [GRCh38]
ChrX:2747030 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.325-242C>T single nucleotide variant not provided [RCV000844305] ChrX:2854751 [GRCh38]
ChrX:2772792 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.837+327C>G single nucleotide variant not provided [RCV000844322] ChrX:2860392 [GRCh38]
ChrX:2778433 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.-129+10del deletion not provided [RCV000827466] ChrX:2828980 [GRCh38]
ChrX:2747021 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_001079855.2(GYG2):c.614+325G>T single nucleotide variant not provided [RCV000828566] ChrX:2856949 [GRCh38]
ChrX:2774990 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001079855.2(GYG2):c.-129+16_-129+17insC insertion not provided [RCV000826284] ChrX:2828991..2828992 [GRCh38]
ChrX:2747032..2747033 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.1252-292C>G single nucleotide variant not provided [RCV000833429] ChrX:2880760 [GRCh38]
ChrX:2798801 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.487+17C>T single nucleotide variant not provided [RCV000840224] ChrX:2855172 [GRCh38]
ChrX:2773213 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.7+185G>A single nucleotide variant not provided [RCV000844300] ChrX:2830380 [GRCh38]
ChrX:2748421 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.324+203T>G single nucleotide variant not provided [RCV000844302] ChrX:2854357 [GRCh38]
ChrX:2772398 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.325-262T>C single nucleotide variant not provided [RCV000844303] ChrX:2854731 [GRCh38]
ChrX:2772772 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.615-324A>G single nucleotide variant not provided [RCV000844317] ChrX:2859519 [GRCh38]
ChrX:2777560 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.837+216G>A single nucleotide variant not provided [RCV000844319] ChrX:2860281 [GRCh38]
ChrX:2778322 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.838-233T>C single nucleotide variant not provided [RCV000844324] ChrX:2861289 [GRCh38]
ChrX:2779330 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.1039-279_1039-257del microsatellite not provided [RCV000831862] ChrX:2875503..2875525 [GRCh38]
ChrX:2793544..2793566 [GRCh37]
ChrX:Xp22.33
benign
NM_001079855.2(GYG2):c.1143+262G>C single nucleotide variant not provided [RCV000831863] ChrX:2876176 [GRCh38]
ChrX:2794217 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001079855.2(GYG2):c.584C>T (p.Thr195Met) single nucleotide variant not provided [RCV000839357] ChrX:2856594 [GRCh38]
ChrX:2774635 [GRCh37]
ChrX:Xp22.33
likely benign
NM_001079855.2(GYG2):c.-128-18C>G single nucleotide variant not provided [RCV000842636] ChrX:2830043 [GRCh38]
ChrX:2748084 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3 copy number gain not provided [RCV000848891] ChrX:2468907..3011375 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_001079855.2(GYG2):c.1002G>A (p.Glu334=) single nucleotide variant not provided [RCV000999307] ChrX:2861686 [GRCh38]
ChrX:2779727 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0 copy number loss See cases [RCV001007410] ChrX:60814..6043278 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_001079855.2(GYG2):c.684A>T (p.Pro228=) single nucleotide variant not provided [RCV000913624] ChrX:2859912 [GRCh38]
ChrX:2777953 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3 copy number gain not provided [RCV001007232] ChrX:827260..3057917 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1 copy number loss not provided [RCV001007201] ChrX:168546..6449753 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3 copy number gain not provided [RCV001258824] ChrX:2422650..2965166 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2 copy number gain not provided [RCV001258827] ChrX:2428084..3118627 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2 copy number gain not provided [RCV001258829] ChrX:2571744..3605934 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1 copy number loss not provided [RCV001270673] ChrX:60000..4857212 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4700 AgrOrtholog
COSMIC GYG2 COSMIC
Ensembl Genes ENSG00000056998 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370549 UniProtKB/TrEMBL
  ENSP00000370555 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381786 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430764 UniProtKB/TrEMBL
  ENSP00000487294 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491962 UniProtKB/TrEMBL
Ensembl Transcript ENST00000353656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381157 UniProtKB/TrEMBL
  ENST00000381161 ENTREZGENE
  ENST00000381163 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398806 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520904 UniProtKB/TrEMBL
  ENST00000639373 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000056998 GTEx
HGNC ID HGNC:4700 ENTREZGENE
Human Proteome Map GYG2 Human Proteome Map
InterPro Glyco_trans_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8908 UniProtKB/Swiss-Prot
NCBI Gene 8908 ENTREZGENE
OMIM 300198 OMIM
Pfam Glyco_transf_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29078 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PQ75_HUMAN UniProtKB/TrEMBL
  B3KUV6 ENTREZGENE, UniProtKB/TrEMBL
  E5RIC9_HUMAN UniProtKB/TrEMBL
  GLYG2_HUMAN UniProtKB/Swiss-Prot
  J3QSZ3_HUMAN UniProtKB/TrEMBL
  O15488 ENTREZGENE
  Q1ZYL7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7WNN6 UniProtKB/Swiss-Prot
  O15485 UniProtKB/Swiss-Prot
  O15486 UniProtKB/Swiss-Prot
  O15487 UniProtKB/Swiss-Prot
  O15489 UniProtKB/Swiss-Prot
  O15490 UniProtKB/Swiss-Prot