VAMP7 (vesicle associated membrane protein 7) - Rat Genome Database
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Gene: VAMP7 (vesicle associated membrane protein 7) Homo sapiens
Analyze
Symbol: VAMP7
Name: vesicle associated membrane protein 7
RGD ID: 1350434
HGNC Page HGNC
Description: Predicted to have syntaxin binding activity. Involved in several processes, including endosome to lysosome transport; leukocyte degranulation; and positive regulation of histamine secretion by mast cell. Localizes to several cellular components, including pseudopodium; secretory granule; and trans-Golgi network.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ53045; FLJ53762; FLJ54296; SYBL1; synaptobrevin-like 1; synaptobrevin-like protein 1; tetanus neurotoxin-insensitive VAMP; tetanus-insensitive VAMP; TI-VAMP; TIVAMP; VAMP-7; vesicle-associated membrane protein 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,881,345 - 155,943,769 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y57,067,838 - 57,130,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,881,318 - 155,943,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37Y59,214,014 - 59,276,439 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,111,008 - 155,173,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,623,407 - 57,685,814 (+)NCBINCBI36hg18NCBI36
Build 36X154,764,207 - 154,826,614 (+)NCBINCBI36hg18NCBI36
Build 34Y57,552,143 - 57,614,551NCBI
CeleraX155,267,418 - 155,329,920 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,593,932 - 143,656,425 (+)NCBIHuRef
CHM1_1X155,022,569 - 155,085,064 (+)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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:6495485   PMID:8125298   PMID:8640232   PMID:9614185   PMID:10459012   PMID:10564831   PMID:10655549   PMID:10888671   PMID:11031247   PMID:11076863   PMID:11101518   PMID:11252894  
PMID:11278762   PMID:11440841   PMID:11786915   PMID:11840509   PMID:12175335   PMID:12444103   PMID:12477932   PMID:12853575   PMID:14672948   PMID:14993220   PMID:15133481   PMID:15470500  
PMID:15489334   PMID:15489336   PMID:15610015   PMID:16195891   PMID:16354670   PMID:16381901   PMID:16430921   PMID:16495485   PMID:16677249   PMID:17897319   PMID:18029348   PMID:18042464  
PMID:18253931   PMID:18362137   PMID:18571410   PMID:18775314   PMID:18819912   PMID:19056867   PMID:19138172   PMID:19451649   PMID:19557002   PMID:19745841   PMID:19781582   PMID:20144992  
PMID:20378544   PMID:21609427   PMID:21674799   PMID:21805468   PMID:21873635   PMID:22002060   PMID:22188132   PMID:22323709   PMID:22589474   PMID:22951367   PMID:23104059   PMID:23217169  
PMID:23217709   PMID:23322049   PMID:23471971   PMID:23741335   PMID:24173214   PMID:24550300   PMID:24807903   PMID:24880616   PMID:25046114   PMID:25999457   PMID:26186194   PMID:26279084  
PMID:26359495   PMID:26553929   PMID:26638075   PMID:26972000   PMID:27173435   PMID:27791468   PMID:28514442   PMID:28625976   PMID:29180619   PMID:29568061   PMID:30194290   PMID:30471916  
PMID:30639242   PMID:30833792   PMID:31073040   PMID:31447853   PMID:33144569  


Genomics

Comparative Map Data
VAMP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,881,345 - 155,943,769 (+)EnsemblGRCh38hg38GRCh38
GRCh38Y57,067,838 - 57,130,289 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38X155,881,318 - 155,943,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37Y59,214,014 - 59,276,439 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37X155,111,008 - 155,173,433 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y57,623,407 - 57,685,814 (+)NCBINCBI36hg18NCBI36
Build 36X154,764,207 - 154,826,614 (+)NCBINCBI36hg18NCBI36
Build 34Y57,552,143 - 57,614,551NCBI
CeleraX155,267,418 - 155,329,920 (+)NCBI
Cytogenetic MapXq28 and Yq12NCBI
HuRefX143,593,932 - 143,656,425 (+)NCBIHuRef
CHM1_1X155,022,569 - 155,085,064 (+)NCBICHM1_1
Vamp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Cytogenetic MapX NCBI
Vamp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21216,728,477 - 16,764,261 (+)NCBI
Rnor_6.0 Ensembl1218,996,591 - 19,030,381 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01218,996,566 - 19,033,714 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01220,989,825 - 21,090,967 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41217,248,700 - 17,278,193 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11217,238,221 - 17,267,715 (-)NCBI
Celera1218,674,387 - 18,700,778 (+)NCBICelera
Cytogenetic Map12q11NCBI
Vamp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495559418,727 - 72,654 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495559420,496 - 72,648 (-)NCBIChiLan1.0ChiLan1.0
VAMP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X155,257,593 - 155,320,215 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX155,257,185 - 155,320,215 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X145,362,432 - 145,425,097 (+)NCBIMhudiblu_PPA_v0panPan3
VAMP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX123,717,446 - 123,783,014 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X123,717,524 - 123,783,781 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Vamp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936958345,055 - 393,384 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
VAMP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX125,863,291 - 125,917,227 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X125,863,266 - 125,917,232 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
VAMP7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,937,026 - 129,984,071 (+)NCBI
ChlSab1.1 EnsemblX129,937,046 - 129,984,119 (+)Ensembl
Vamp7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462498040,937 - 94,547 (-)NCBI

Position Markers
RH70940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X155,171,667 - 155,171,827UniSTSGRCh37
GRCh37Y59,274,673 - 59,274,833UniSTSGRCh37
Build 36X154,824,861 - 154,825,021RGDNCBI36
CeleraX155,328,154 - 155,328,314RGD
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS
HuRefX143,654,659 - 143,654,819UniSTS
GDB:451553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X155,172,418 - 155,172,565UniSTSGRCh37
GRCh37Y59,275,424 - 59,275,571UniSTSGRCh37
Build 36X154,825,612 - 154,825,759RGDNCBI36
CeleraX155,328,905 - 155,329,052RGD
Cytogenetic MapYq12UniSTS
Cytogenetic MapXq28UniSTS
HuRefX143,655,410 - 143,655,557UniSTS
UniSTS:154379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,241,109 - 59,241,317UniSTSGRCh37
GRCh37X155,138,103 - 155,138,311UniSTSGRCh37
Build 36X154,791,297 - 154,791,505RGDNCBI36
CeleraX155,294,581 - 155,294,791RGD
HuRefX143,621,099 - 143,621,311UniSTS
SYBL1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y59,230,795 - 59,230,913UniSTSGRCh37
GRCh37X155,127,789 - 155,127,907UniSTSGRCh37
CeleraX155,284,263 - 155,284,381UniSTS
HuRefX143,610,782 - 143,610,900UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2808
Count of miRNA genes:1056
Interacting mature miRNAs:1281
Transcripts:ENST00000262640, ENST00000286448, ENST00000460621, ENST00000463317, ENST00000479687, ENST00000488344
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 2390 2352 1658 577 1710 421 4211 1766 3406 406 1448 1605 172 1 1203 2643 5
Low 47 634 67 45 238 43 145 427 322 13 6 3 2 1 145
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001185183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017030063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI042181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI522002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ004799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ225808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ295938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ549301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262640   ⟹   ENSP00000262640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,375 - 155,943,769 (+)Ensembl
RefSeq Acc Id: ENST00000286448   ⟹   ENSP00000286448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,345 - 155,943,769 (+)Ensembl
RefSeq Acc Id: ENST00000460621   ⟹   ENSP00000427822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,378 - 155,941,989 (+)Ensembl
RefSeq Acc Id: ENST00000463317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,372 - 155,939,790 (+)Ensembl
RefSeq Acc Id: ENST00000479687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,358 - 155,941,909 (+)Ensembl
RefSeq Acc Id: ENST00000488344   ⟹   ENSP00000430039
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,881,360 - 155,941,944 (+)Ensembl
RefSeq Acc Id: NM_001145149   ⟹   NP_001138621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001185183   ⟹   NP_001172112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005638   ⟹   NP_005629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
Build 36X154,764,207 - 154,826,614 (+)NCBI Archive
Build 36Y57,623,407 - 57,685,814 (+)NCBI Archive
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033714
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
Sequence:
RefSeq Acc Id: NR_033715
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,345 - 155,943,769 (+)NCBI
GRCh38Y57,067,865 - 57,130,289 (+)NCBI
GRCh37X155,110,943 - 155,173,433 (+)ENTREZGENE
GRCh37Y59,213,949 - 59,276,439 (+)NCBI
HuRefX143,593,932 - 143,656,425 (+)ENTREZGENE
CHM1_1X155,022,569 - 155,085,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531188   ⟹   XP_011529490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,322 - 155,943,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545653   ⟹   XP_011543955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,842 - 57,130,289 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029760   ⟹   XP_016885249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,881,318 - 155,943,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017030063   ⟹   XP_016885552
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y57,067,838 - 57,130,289 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005629   ⟸   NM_005638
- Peptide Label: isoform 1
- UniProtKB: P51809 (UniProtKB/Swiss-Prot),   A0A024R061 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001172112   ⟸   NM_001185183
- Peptide Label: isoform 3
- UniProtKB: P51809 (UniProtKB/Swiss-Prot),   A0A024R074 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138621   ⟸   NM_001145149
- Peptide Label: isoform 2
- UniProtKB: P51809 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543955   ⟸   XM_011545653
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529490   ⟸   XM_011531188
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885552   ⟸   XM_017030063
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016885249   ⟸   XM_017029760
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000286448   ⟸   ENST00000286448
RefSeq Acc Id: ENSP00000262640   ⟸   ENST00000262640
RefSeq Acc Id: ENSP00000430039   ⟸   ENST00000488344
RefSeq Acc Id: ENSP00000427822   ⟸   ENST00000460621
Promoters
RGD ID:13628716
Promoter ID:EPDNEW_H29596
Type:initiation region
Name:VAMP7_1
Description:vesicle associated membrane protein 7
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
GRCh38X155,881,345 - 155,881,405EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
GRCh38/hg38 Xq28(chrX:155678751-155951918)x0 copy number loss See cases [RCV000051074] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xq28(chrX:155678751-155951918)x1 copy number loss See cases [RCV000051075] ChrX:155678751..155951918 [GRCh38]
ChrX:154908412..155181583 [GRCh37]
ChrX:154561606..154834777 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:155348480-156016920)x3 copy number gain See cases [RCV000135266] ChrX:155348480..156016920 [GRCh38]
ChrX:154577793..155246585 [GRCh37]
ChrX:154230987..154899779 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Yq12(chrY:56890578-57212647)x3 copy number gain See cases [RCV000134654] ChrY:56890578..57212647 [GRCh38]
ChrY:59036725..59358798 [GRCh37]
ChrY:57446113..57768186 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq28(chrX:155745034-155996392)x0 copy number loss See cases [RCV000134861] ChrX:155745034..155996392 [GRCh38]
ChrX:154974696..155226057 [GRCh37]
ChrX:154627890..154879251 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000053517] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12
benign|conflicting data from submitters
GRCh38/hg38 Xq28(chrX:155745005-155978689)x0 copy number loss See cases [RCV000133784] ChrX:155745005..155978689 [GRCh38]
ChrX:154974667..155208354 [GRCh37]
ChrX:154627861..154861548 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155717169-156022206)x3 copy number gain See cases [RCV000054349] ChrX:155717169..156022206 [GRCh38]
ChrX:154946830..155251871 [GRCh37]
ChrX:154600024..154905065 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155745005-155996431)x3 copy number gain See cases [RCV000054350] ChrX:155745005..155996431 [GRCh38]
ChrX:154974667..155226096 [GRCh37]
ChrX:154627861..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155782123-155967288)x3 copy number gain See cases [RCV000054351] ChrX:155782123..155967288 [GRCh38]
ChrX:155011785..155196953 [GRCh37]
ChrX:154664979..154850147 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:155828359-155979369)x0 copy number loss See cases [RCV000051430] ChrX:155828359..155979369 [GRCh38]
ChrX:155058022..155209034 [GRCh37]
ChrX:154711216..154862228 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
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-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-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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:155889104-156020513)x3 copy number gain See cases [RCV000140536] ChrX:155889104..156020513 [GRCh38]
ChrX:155118767..155250178 [GRCh37]
ChrX:154771961..154903372 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
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 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12
pathogenic
GRCh38/hg38 Xq28(chrX:155775219-156003242)x1 copy number loss See cases [RCV000141630] ChrX:155775219..156003242 [GRCh38]
ChrX:155004881..155232907 [GRCh37]
ChrX:154658075..154886101 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
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-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-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: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 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Yq12(chrY:56992525-57166951)x0 copy number loss See cases [RCV000142540] ChrY:56992525..57166951 [GRCh38]
ChrY:59138674..59313102 [GRCh37]
ChrY:57548062..57722490 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq28(chrX:155745034-156003229)x0 copy number loss See cases [RCV000142823] ChrX:155745034..156003229 [GRCh38]
ChrX:154974696..155232894 [GRCh37]
ChrX:154627890..154886088 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq28(chrX:155532532-156003229)x0 copy number loss See cases [RCV000143003] ChrX:155532532..156003229 [GRCh38]
ChrX:154762193..155232894 [GRCh37]
ChrX:154415387..154886088 [NCBI36]
ChrX:Xq28
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
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-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: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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Yq12(chrY:56898727-57190586)x0 copy number loss See cases [RCV000143422] ChrY:56898727..57190586 [GRCh38]
ChrY:59044874..59336737 [GRCh37]
ChrY:57454262..57746125 [NCBI36]
ChrY:Yq12
likely benign
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Yq12(chrY:56903689-57208726)x0 copy number loss See cases [RCV000148064] ChrY:56903689..57208726 [GRCh38]
ChrY:59049836..59354877 [GRCh37]
ChrY:57459224..57764265 [NCBI36]
ChrY:Yq12
benign
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 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Yq12(chrY:56968643-57098882)x0 copy number loss See cases [RCV000136544] ChrY:56968643..57098882 [GRCh38]
ChrY:59114791..59245032 [GRCh37]
ChrY:57524179..57654420 [NCBI36]
ChrY:Yq12
uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Yq12(chrY:56992525-57208726)x0 copy number loss See cases [RCV000136553] ChrY:56992525..57208726 [GRCh38]
ChrY:59138674..59354877 [GRCh37]
ChrY:57548062..57764265 [NCBI36]
ChrY:Yq12
benign
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: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:10679-156022206)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-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 Xq28(chrX:155699559-156022206)x1 copy number loss See cases [RCV000136868] ChrX:155699559..156022206 [GRCh38]
ChrX:154929220..155251871 [GRCh37]
ChrX:154582414..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:155434676-156022206)x3 copy number gain See cases [RCV000137037] ChrX:155434676..156022206 [GRCh38]
ChrX:154664337..155251871 [GRCh37]
ChrX:154317531..154905065 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Yq11.23-12(chrY:26389936-57208726)x0 copy number loss See cases [RCV000137091] ChrY:26389936..57208726 [GRCh38]
ChrY:28536083..59354877 [GRCh37]
ChrY:26945471..57764265 [NCBI36]
ChrY:Yq11.23-12
benign
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
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-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-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-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 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
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-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: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
GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12
pathogenic
GRCh38/hg38 Yq12(chrY:56931525-57189762)x0 copy number loss See cases [RCV000137729] ChrY:56931525..57189762 [GRCh38]
ChrY:59077673..59335913 [GRCh37]
ChrY:57487061..57745301 [NCBI36]
ChrY:Yq12
benign
GRCh38/hg38 Xq28(chrX:155844642-156003242)x0 copy number loss See cases [RCV000137780] ChrX:155844642..156003242 [GRCh38]
ChrX:155074305..155232907 [GRCh37]
ChrX:154727499..154886101 [NCBI36]
ChrX:Xq28
likely benign
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:155800088-156003242)x1 copy number loss See cases [RCV000137967] ChrX:155800088..156003242 [GRCh38]
ChrX:155029751..155232907 [GRCh37]
ChrX:154682945..154886101 [NCBI36]
ChrX:Xq28
benign
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq28(chrX:155509742-155960682)x1 copy number loss See cases [RCV000138108] ChrX:155509742..155960682 [GRCh38]
ChrX:154739403..155190347 [GRCh37]
ChrX:154392597..154843541 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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-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-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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
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 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:155348480-156003242)x3 copy number gain See cases [RCV000138670] ChrX:155348480..156003242 [GRCh38]
ChrX:154577793..155232907 [GRCh37]
ChrX:154230987..154886101 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12
likely pathogenic
NM_005638.6(VAMP7):c.364G>A (p.Gly122Ser) single nucleotide variant not provided [RCV000979158] ChrX:155900518 [GRCh38]
ChrY:57087038 [GRCh38]
ChrX:155130182 [GRCh37]
ChrY:59233188 [GRCh37]
ChrX:Xq28
ChrY:Yq12
likely benign
NM_005638.6(VAMP7):c.573T>C (p.Ile191=) single nucleotide variant not provided [RCV000880306] ChrX:155939772 [GRCh38]
ChrY:57126292 [GRCh38]
ChrX:155169436 [GRCh37]
ChrY:59272442 [GRCh37]
ChrX:Xq28
ChrY:Yq12
likely benign
NM_005638.6(VAMP7):c.327C>G (p.Val109=) single nucleotide variant not provided [RCV000958378] ChrX:155898234 [GRCh38]
ChrY:57084754 [GRCh38]
ChrX:155127898 [GRCh37]
ChrY:59230904 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign
NM_005638.6(VAMP7):c.380T>C (p.Met127Thr) single nucleotide variant not provided [RCV000895187] ChrX:155900534 [GRCh38]
ChrY:57087054 [GRCh38]
ChrX:155130198 [GRCh37]
ChrY:59233204 [GRCh37]
ChrX:Xq28
ChrY:Yq12
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11486 AgrOrtholog
COSMIC VAMP7 COSMIC
Ensembl Genes ENSG00000124333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262640 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000286448 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427822 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430039 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262640 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000286448 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000460621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000488344 UniProtKB/TrEMBL
GTEx ENSG00000124333 GTEx
HGNC ID HGNC:11486 ENTREZGENE
Human Proteome Map VAMP7 Human Proteome Map
InterPro Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6845 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6845 ENTREZGENE
OMIM 300053 OMIM
Pfam Longin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408786 PharmGKB
PRINTS SYNAPTOBREVN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LONGIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SYNAPTOBREVIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  V_SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Longin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R061 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R074 ENTREZGENE, UniProtKB/TrEMBL
  E5RH06_HUMAN UniProtKB/TrEMBL
  P51809 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q53GY7 UniProtKB/Swiss-Prot
  Q7Z409 UniProtKB/Swiss-Prot
  Q9H4A7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 VAMP7  vesicle associated membrane protein 7    vesicle-associated membrane protein 7  Symbol and/or name change 5135510 APPROVED