OBSL1 (obscurin like cytoskeletal adaptor 1) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: OBSL1 (obscurin like cytoskeletal adaptor 1) Homo sapiens
Analyze
Symbol: OBSL1
Name: obscurin like cytoskeletal adaptor 1
RGD ID: 1603688
HGNC Page HGNC
Description: Involved in several processes, including Golgi organization; positive regulation of dendrite morphogenesis; and protein localization to Golgi apparatus. Localizes to several cellular components, including 3M complex; centrosome; and perinuclear region of cytoplasm. Implicated in 3-M syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3M2; KIAA0657; MGC71026; obscurin like 1; obscurin-like 1; obscurin-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2219,550,728 - 219,571,859 (-)EnsemblGRCh38hg38GRCh38
GRCh382219,549,408 - 219,571,573 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,415,450 - 220,436,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,123,708 - 220,144,255 (-)NCBINCBI36hg18NCBI36
Celera2214,185,413 - 214,206,231 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2212,268,480 - 212,289,298 (-)NCBIHuRef
CHM1_12220,421,271 - 220,442,089 (-)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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8619474   PMID:8681137   PMID:9110174   PMID:9734811   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15174051   PMID:15489334   PMID:17289344   PMID:18477606   PMID:19481195  
PMID:19877176   PMID:20133654   PMID:20301654   PMID:20489725   PMID:20498229   PMID:20562859   PMID:20797700   PMID:21572988   PMID:21737058   PMID:21873635   PMID:21903422   PMID:22156540  
PMID:23018678   PMID:23443559   PMID:23455922   PMID:23602568   PMID:24711643   PMID:24778252   PMID:24793695   PMID:24989974   PMID:25277244   PMID:25476789   PMID:25609649   PMID:25752541  
PMID:25814554   PMID:26186194   PMID:26972000   PMID:27173435   PMID:27565346   PMID:27634302   PMID:27654294   PMID:27796265   PMID:27989621   PMID:28298427   PMID:28514442   PMID:28561026  
PMID:28675297   PMID:29150431   PMID:29395067   PMID:29507117   PMID:30561431   PMID:30773093   PMID:30980518   PMID:31073040   PMID:31091453   PMID:31152661   PMID:31343991   PMID:31586073  
PMID:31753913   PMID:32877691  


Genomics

Comparative Map Data
OBSL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2219,550,728 - 219,571,859 (-)EnsemblGRCh38hg38GRCh38
GRCh382219,549,408 - 219,571,573 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372220,415,450 - 220,436,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,123,708 - 220,144,255 (-)NCBINCBI36hg18NCBI36
Celera2214,185,413 - 214,206,231 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2212,268,480 - 212,289,298 (-)NCBIHuRef
CHM1_12220,421,271 - 220,442,089 (-)NCBICHM1_1
Obsl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,462,469 - 75,483,143 (-)NCBIGRCm39mm39
GRCm38175,485,825 - 75,506,486 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,479,310 - 75,506,452 (-)EnsemblGRCm38mm10GRCm38
MGSCv37175,482,400 - 75,503,027 (-)NCBIGRCm37mm9NCBIm37
MGSCv36175,373,687 - 75,388,789 (-)NCBImm8
Celera175,975,184 - 75,995,750 (-)NCBICelera
Cytogenetic Map1C4NCBI
Obsl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0982,673,871 - 82,699,577 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,680,384 - 82,699,551 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,449,529 - 82,468,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,761,815 - 74,780,292 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1974,918,133 - 74,928,210 (-)NCBI
Celera974,544,146 - 74,563,437 (-)NCBICelera
Cytogenetic Map9q33NCBI
Obsl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545313,906,013 - 13,925,681 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545313,905,992 - 13,932,652 (+)NCBIChiLan1.0ChiLan1.0
OBSL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B225,402,614 - 225,419,008 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,398,863 - 225,418,567 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B106,805,441 - 106,828,937 (-)NCBIMhudiblu_PPA_v0panPan3
OBSL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3726,059,713 - 26,079,488 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13726,059,713 - 26,079,503 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Obsl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365691,930,189 - 1,949,735 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OBSL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15121,560,007 - 121,581,710 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115121,560,009 - 121,581,314 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,512,265 - 134,533,024 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OBSL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,445,800 - 105,467,187 (-)NCBI
ChlSab1.1 Ensembl10105,442,071 - 105,466,875 (-)Ensembl
Obsl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248235,491,644 - 5,518,222 (+)NCBI

Position Markers
RH102755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,391 - 220,420,522UniSTSGRCh37
Build 362220,128,635 - 220,128,766RGDNCBI36
Celera2214,190,353 - 214,190,484RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,420 - 212,273,551UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
ECD00922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,427,865 - 220,428,749UniSTSGRCh37
Build 362220,136,109 - 220,136,993RGDNCBI36
Celera2214,197,828 - 214,198,712RGD
Cytogenetic Map2q35UniSTS
HuRef2212,280,895 - 212,281,779UniSTS
ECD01686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,950 - 220,427,806UniSTSGRCh37
Build 362220,135,194 - 220,136,050RGDNCBI36
Celera2214,196,913 - 214,197,769RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,980 - 212,280,836UniSTS
ECD03085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,416,253 - 220,417,059UniSTSGRCh37
Build 362220,124,497 - 220,125,303RGDNCBI36
Celera2214,186,216 - 214,187,022RGD
Cytogenetic Map2q35UniSTS
HuRef2212,269,283 - 212,270,089UniSTS
ECD03263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,380 - 220,416,180UniSTSGRCh37
Build 362220,123,624 - 220,124,424RGDNCBI36
Celera2214,185,343 - 214,186,143RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,410 - 212,269,210UniSTS
ECD03433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,826 - 220,434,621UniSTSGRCh37
Build 362220,142,070 - 220,142,865RGDNCBI36
Celera2214,203,789 - 214,204,584RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,857 - 212,287,652UniSTS
ECD05192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,254 - 220,417,996UniSTSGRCh37
Build 362220,125,498 - 220,126,240RGDNCBI36
Celera2214,187,217 - 214,187,959RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,284 - 212,271,026UniSTS
ECD06449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,236 - 220,418,944UniSTSGRCh37
Build 362220,126,480 - 220,127,188RGDNCBI36
Celera2214,188,199 - 214,188,907RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,266 - 212,271,974UniSTS
ECD07776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,024 - 220,419,696UniSTSGRCh37
Build 362220,127,268 - 220,127,940RGDNCBI36
Celera2214,188,987 - 214,189,659RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,054 - 212,272,726UniSTS
ECD07994  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,422,633 - 220,423,299UniSTSGRCh37
Build 362220,130,877 - 220,131,543RGDNCBI36
Celera2214,192,595 - 214,193,261RGD
Cytogenetic Map2q35UniSTS
HuRef2212,275,662 - 212,276,328UniSTS
ECD09008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,894 - 220,422,533UniSTSGRCh37
Build 362220,130,138 - 220,130,777RGDNCBI36
Celera2214,191,856 - 214,192,495RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,923 - 212,275,562UniSTS
ECD09817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,407 - 220,421,026UniSTSGRCh37
Build 362220,128,651 - 220,129,270RGDNCBI36
Celera2214,190,369 - 214,190,988RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,436 - 212,274,055UniSTS
ECD10122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,070 - 220,421,680UniSTSGRCh37
Build 362220,129,314 - 220,129,924RGDNCBI36
Celera2214,191,032 - 214,191,642RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,099 - 212,274,709UniSTS
ECD10160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,211 - 220,431,820UniSTSGRCh37
Build 362220,139,455 - 220,140,064RGDNCBI36
Celera2214,201,174 - 214,201,783RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,241 - 212,284,850UniSTS
ECD10294  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,866 - 220,432,471UniSTSGRCh37
Build 362220,140,110 - 220,140,715RGDNCBI36
Celera2214,201,829 - 214,202,434RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,896 - 212,285,501UniSTS
ECD10421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,547 - 220,433,149UniSTSGRCh37
Build 362220,140,791 - 220,141,393RGDNCBI36
Celera2214,202,510 - 214,203,112RGD
Cytogenetic Map2q35UniSTS
HuRef2212,285,577 - 212,286,179UniSTS
ECD10557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,800 - 220,437,398UniSTSGRCh37
Build 362220,145,044 - 220,145,642RGDNCBI36
Celera2214,206,763 - 214,207,361RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,828 - 212,290,426UniSTS
ECD11664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,578 - 220,426,143UniSTSGRCh37
Build 362220,133,822 - 220,134,387RGDNCBI36
Celera2214,195,540 - 214,196,105RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,607 - 212,279,172UniSTS
ECD12516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,424,998 - 220,425,539UniSTSGRCh37
Build 362220,133,242 - 220,133,783RGDNCBI36
Celera2214,194,960 - 214,195,501RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,027 - 212,278,568UniSTS
ECD13213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,782 - 220,424,305UniSTSGRCh37
Build 362220,132,026 - 220,132,549RGDNCBI36
Celera2214,193,744 - 214,194,267RGD
Cytogenetic Map2q35UniSTS
HuRef2212,276,811 - 212,277,334UniSTS
ECD13287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,846 - 220,430,367UniSTSGRCh37
Build 362220,138,090 - 220,138,611RGDNCBI36
Celera2214,199,809 - 214,200,330RGD
Cytogenetic Map2q35UniSTS
HuRef2212,282,876 - 212,283,397UniSTS
ECD13563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,834 - 220,435,348UniSTSGRCh37
Build 362220,143,078 - 220,143,592RGDNCBI36
Celera2214,204,797 - 214,205,311RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,865 - 212,288,379UniSTS
ECD17211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,435,458 - 220,435,866UniSTSGRCh37
Build 362220,143,702 - 220,144,110RGDNCBI36
Celera2214,205,421 - 214,205,829RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,288,489 - 212,288,896UniSTS
ECD18972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,595 - 220,437,934UniSTSGRCh37
Build 362220,145,839 - 220,146,178RGDNCBI36
Celera2214,207,558 - 214,207,897RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,623 - 212,290,962UniSTS
ECD20291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,190 - 220,436,479UniSTSGRCh37
Build 362220,144,434 - 220,144,723RGDNCBI36
Celera2214,206,153 - 214,206,442RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,220 - 212,289,509UniSTS
ECD21655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,519 - 220,430,762UniSTSGRCh37
Build 362220,138,763 - 220,139,006RGDNCBI36
Celera2214,200,482 - 214,200,725RGD
Cytogenetic Map2q35UniSTS
HuRef2212,283,549 - 212,283,792UniSTS
D10S2362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,562 - 220,426,700UniSTSGRCh37
Build 362220,134,806 - 220,134,944RGDNCBI36
Celera2214,196,525 - 214,196,663RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,592 - 212,279,730UniSTS
GeneMap99-G3 RH Map29464.0UniSTS
REN53323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,051 - 220,415,295UniSTSGRCh37
Build 362220,123,295 - 220,123,539RGDNCBI36
Celera2214,185,014 - 214,185,258RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,081 - 212,268,325UniSTS
REN53324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,275 - 220,415,524UniSTSGRCh37
Build 362220,123,519 - 220,123,768RGDNCBI36
Celera2214,185,238 - 214,185,487RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,305 - 212,268,554UniSTS
REN53325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,450 - 220,415,688UniSTSGRCh37
Build 362220,123,694 - 220,123,932RGDNCBI36
Celera2214,185,413 - 214,185,651RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,480 - 212,268,718UniSTS
REN53326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,667 - 220,415,930UniSTSGRCh37
Build 362220,123,911 - 220,124,174RGDNCBI36
Celera2214,185,630 - 214,185,893RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,697 - 212,268,960UniSTS
REN53327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,909 - 220,416,146UniSTSGRCh37
Build 362220,124,153 - 220,124,390RGDNCBI36
Celera2214,185,872 - 214,186,109RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,939 - 212,269,176UniSTS
REN53328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,416,125 - 220,416,351UniSTSGRCh37
Build 362220,124,369 - 220,124,595RGDNCBI36
Celera2214,186,088 - 214,186,314RGD
Cytogenetic Map2q35UniSTS
HuRef2212,269,155 - 212,269,381UniSTS
REN53329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,416,299 - 220,416,566UniSTSGRCh37
Build 362220,124,543 - 220,124,810RGDNCBI36
Celera2214,186,262 - 214,186,529RGD
Cytogenetic Map2q35UniSTS
HuRef2212,269,329 - 212,269,596UniSTS
REN53330  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,416,542 - 220,416,808UniSTSGRCh37
Build 362220,124,786 - 220,125,052RGDNCBI36
Celera2214,186,505 - 214,186,771RGD
Cytogenetic Map2q35UniSTS
HuRef2212,269,572 - 212,269,838UniSTS
REN53331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,416,779 - 220,417,044UniSTSGRCh37
Build 362220,125,023 - 220,125,288RGDNCBI36
Celera2214,186,742 - 214,187,007RGD
Cytogenetic Map2q35UniSTS
HuRef2212,269,809 - 212,270,074UniSTS
REN53332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,033 - 220,417,272UniSTSGRCh37
Build 362220,125,277 - 220,125,516RGDNCBI36
Celera2214,186,996 - 214,187,235RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,063 - 212,270,302UniSTS
REN53333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,229 - 220,417,474UniSTSGRCh37
Build 362220,125,473 - 220,125,718RGDNCBI36
Celera2214,187,192 - 214,187,437RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,259 - 212,270,504UniSTS
REN53334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,339 - 220,417,589UniSTSGRCh37
Build 362220,125,583 - 220,125,833RGDNCBI36
Celera2214,187,302 - 214,187,552RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,369 - 212,270,619UniSTS
REN53335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,525 - 220,417,749UniSTSGRCh37
Build 362220,125,769 - 220,125,993RGDNCBI36
Celera2214,187,488 - 214,187,712RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,555 - 212,270,779UniSTS
REN53336  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,731 - 220,417,995UniSTSGRCh37
Build 362220,125,975 - 220,126,239RGDNCBI36
Celera2214,187,694 - 214,187,958RGD
Cytogenetic Map2q35UniSTS
HuRef2212,270,761 - 212,271,025UniSTS
REN53337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,417,990 - 220,418,239UniSTSGRCh37
Build 362220,126,234 - 220,126,483RGDNCBI36
Celera2214,187,953 - 214,188,202RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,020 - 212,271,269UniSTS
REN53338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,237 - 220,418,489UniSTSGRCh37
Build 362220,126,481 - 220,126,733RGDNCBI36
Celera2214,188,200 - 214,188,452RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,267 - 212,271,519UniSTS
REN53339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,464 - 220,418,707UniSTSGRCh37
Build 362220,126,708 - 220,126,951RGDNCBI36
Celera2214,188,427 - 214,188,670RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,494 - 212,271,737UniSTS
REN53340  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,679 - 220,418,904UniSTSGRCh37
Build 362220,126,923 - 220,127,148RGDNCBI36
Celera2214,188,642 - 214,188,867RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,709 - 212,271,934UniSTS
REN53341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,886 - 220,419,152UniSTSGRCh37
Build 362220,127,130 - 220,127,396RGDNCBI36
Celera2214,188,849 - 214,189,115RGD
Cytogenetic Map2q35UniSTS
HuRef2212,271,916 - 212,272,182UniSTS
REN53342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,129 - 220,419,388UniSTSGRCh37
Build 362220,127,373 - 220,127,632RGDNCBI36
Celera2214,189,092 - 214,189,351RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,159 - 212,272,418UniSTS
REN53343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,369 - 220,419,614UniSTSGRCh37
Build 362220,127,613 - 220,127,858RGDNCBI36
Celera2214,189,332 - 214,189,577RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,399 - 212,272,644UniSTS
REN53344  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,594 - 220,419,825UniSTSGRCh37
Build 362220,127,838 - 220,128,069RGDNCBI36
Celera2214,189,557 - 214,189,788RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,624 - 212,272,855UniSTS
REN53345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,796 - 220,420,020UniSTSGRCh37
Build 362220,128,040 - 220,128,264RGDNCBI36
Celera2214,189,759 - 214,189,983RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,826 - 212,273,050UniSTS
REN53346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,852 - 220,420,092UniSTSGRCh37
Build 362220,128,096 - 220,128,336RGDNCBI36
Celera2214,189,815 - 214,190,055RGD
Cytogenetic Map2q35UniSTS
HuRef2212,272,882 - 212,273,122UniSTS
REN53347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,132 - 220,420,363UniSTSGRCh37
Build 362220,128,376 - 220,128,607RGDNCBI36
Celera2214,190,095 - 214,190,325RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,162 - 212,273,392UniSTS
REN53348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,347 - 220,420,607UniSTSGRCh37
Build 362220,128,591 - 220,128,851RGDNCBI36
Celera2214,190,309 - 214,190,569RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,376 - 212,273,636UniSTS
REN53349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,583 - 220,420,833UniSTSGRCh37
Build 362220,128,827 - 220,129,077RGDNCBI36
Celera2214,190,545 - 214,190,795RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,612 - 212,273,862UniSTS
REN53350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,824 - 220,421,086UniSTSGRCh37
Build 362220,129,068 - 220,129,330RGDNCBI36
Celera2214,190,786 - 214,191,048RGD
Cytogenetic Map2q35UniSTS
HuRef2212,273,853 - 212,274,115UniSTS
REN53351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,073 - 220,421,301UniSTSGRCh37
Build 362220,129,317 - 220,129,545RGDNCBI36
Celera2214,191,035 - 214,191,263RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,102 - 212,274,330UniSTS
REN53352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,277 - 220,421,549UniSTSGRCh37
Build 362220,129,521 - 220,129,793RGDNCBI36
Celera2214,191,239 - 214,191,511RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,306 - 212,274,578UniSTS
REN53353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,537 - 220,421,761UniSTSGRCh37
Build 362220,129,781 - 220,130,005RGDNCBI36
Celera2214,191,499 - 214,191,723RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,566 - 212,274,790UniSTS
REN53354  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,736 - 220,421,969UniSTSGRCh37
Build 362220,129,980 - 220,130,213RGDNCBI36
Celera2214,191,698 - 214,191,931RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,765 - 212,274,998UniSTS
REN53355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,902 - 220,422,130UniSTSGRCh37
Build 362220,130,146 - 220,130,374RGDNCBI36
Celera2214,191,864 - 214,192,092RGD
Cytogenetic Map2q35UniSTS
HuRef2212,274,931 - 212,275,159UniSTS
REN53356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,422,102 - 220,422,366UniSTSGRCh37
Build 362220,130,346 - 220,130,610RGDNCBI36
Celera2214,192,064 - 214,192,328RGD
Cytogenetic Map2q35UniSTS
HuRef2212,275,131 - 212,275,395UniSTS
REN53357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,422,346 - 220,422,615UniSTSGRCh37
Build 362220,130,590 - 220,130,859RGDNCBI36
Celera2214,192,308 - 214,192,577RGD
Cytogenetic Map2q35UniSTS
HuRef2212,275,375 - 212,275,644UniSTS
REN53358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,422,592 - 220,422,853UniSTSGRCh37
Build 362220,130,836 - 220,131,097RGDNCBI36
Celera2214,192,554 - 214,192,815RGD
Cytogenetic Map2q35UniSTS
HuRef2212,275,621 - 212,275,882UniSTS
REN53359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,422,848 - 220,423,081UniSTSGRCh37
Build 362220,131,092 - 220,131,325RGDNCBI36
Celera2214,192,810 - 214,193,043RGD
Cytogenetic Map2q35UniSTS
HuRef2212,275,877 - 212,276,110UniSTS
REN53360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,060 - 220,423,304UniSTSGRCh37
Build 362220,131,304 - 220,131,548RGDNCBI36
Celera2214,193,022 - 214,193,266RGD
Cytogenetic Map2q35UniSTS
HuRef2212,276,089 - 212,276,333UniSTS
REN53361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,289 - 220,423,536UniSTSGRCh37
Build 362220,131,533 - 220,131,780RGDNCBI36
Celera2214,193,251 - 214,193,498RGD
Cytogenetic Map2q35UniSTS
HuRef2212,276,318 - 212,276,565UniSTS
REN53362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,534 - 220,423,760UniSTSGRCh37
Build 362220,131,778 - 220,132,004RGDNCBI36
Celera2214,193,496 - 214,193,722RGD
Cytogenetic Map2q35UniSTS
HuRef2212,276,563 - 212,276,789UniSTS
REN53363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,739 - 220,423,996UniSTSGRCh37
Build 362220,131,983 - 220,132,240RGDNCBI36
Celera2214,193,701 - 214,193,958RGD
Cytogenetic Map2q35UniSTS
HuRef2212,276,768 - 212,277,025UniSTS
REN53364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,973 - 220,424,202UniSTSGRCh37
Build 362220,132,217 - 220,132,446RGDNCBI36
Celera2214,193,935 - 214,194,164RGD
Cytogenetic Map2q35UniSTS
HuRef2212,277,002 - 212,277,231UniSTS
REN53365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,424,193 - 220,424,448UniSTSGRCh37
Build 362220,132,437 - 220,132,692RGDNCBI36
Celera2214,194,155 - 214,194,410RGD
Cytogenetic Map2q35UniSTS
HuRef2212,277,222 - 212,277,477UniSTS
REN53366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,424,437 - 220,424,699UniSTSGRCh37
Build 362220,132,681 - 220,132,943RGDNCBI36
Celera2214,194,399 - 214,194,661RGD
Cytogenetic Map2q35UniSTS
HuRef2212,277,466 - 212,277,728UniSTS
REN53367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,424,676 - 220,424,925UniSTSGRCh37
Build 362220,132,920 - 220,133,169RGDNCBI36
Celera2214,194,638 - 214,194,887RGD
Cytogenetic Map2q35UniSTS
HuRef2212,277,705 - 212,277,954UniSTS
REN53368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,424,895 - 220,425,146UniSTSGRCh37
Build 362220,133,139 - 220,133,390RGDNCBI36
Celera2214,194,857 - 214,195,108RGD
Cytogenetic Map2q35UniSTS
HuRef2212,277,924 - 212,278,175UniSTS
REN53369  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,123 - 220,425,373UniSTSGRCh37
Build 362220,133,367 - 220,133,617RGDNCBI36
Celera2214,195,085 - 214,195,335RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,152 - 212,278,402UniSTS
REN53370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,297 - 220,425,540UniSTSGRCh37
Build 362220,133,541 - 220,133,784RGDNCBI36
Celera2214,195,259 - 214,195,502RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,326 - 212,278,569UniSTS
REN53371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,517 - 220,425,757UniSTSGRCh37
Build 362220,133,761 - 220,134,001RGDNCBI36
Celera2214,195,479 - 214,195,719RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,546 - 212,278,786UniSTS
REN53372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,739 - 220,425,990UniSTSGRCh37
Build 362220,133,983 - 220,134,234RGDNCBI36
Celera2214,195,701 - 214,195,952RGD
Cytogenetic Map2q35UniSTS
HuRef2212,278,768 - 212,279,019UniSTS
REN53373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,971 - 220,426,196UniSTSGRCh37
Build 362220,134,215 - 220,134,440RGDNCBI36
Celera2214,195,933 - 214,196,158RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,000 - 212,279,225UniSTS
REN53374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,171 - 220,426,431UniSTSGRCh37
Build 362220,134,415 - 220,134,675RGDNCBI36
Celera2214,196,133 - 214,196,394RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,200 - 212,279,461UniSTS
REN53375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,384 - 220,426,627UniSTSGRCh37
Build 362220,134,628 - 220,134,871RGDNCBI36
Celera2214,196,347 - 214,196,590RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,414 - 212,279,657UniSTS
REN53376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,606 - 220,426,875UniSTSGRCh37
Build 362220,134,850 - 220,135,119RGDNCBI36
Celera2214,196,569 - 214,196,838RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,636 - 212,279,905UniSTS
REN53377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,845 - 220,427,098UniSTSGRCh37
Build 362220,135,089 - 220,135,342RGDNCBI36
Celera2214,196,808 - 214,197,061RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,875 - 212,280,128UniSTS
REN53378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,427,078 - 220,427,331UniSTSGRCh37
Build 362220,135,322 - 220,135,575RGDNCBI36
Celera2214,197,041 - 214,197,294RGD
Cytogenetic Map2q35UniSTS
HuRef2212,280,108 - 212,280,361UniSTS
REN53379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,427,310 - 220,427,577UniSTSGRCh37
Build 362220,135,554 - 220,135,821RGDNCBI36
Celera2214,197,273 - 214,197,540RGD
Cytogenetic Map2q35UniSTS
HuRef2212,280,340 - 212,280,607UniSTS
REN53380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,427,572 - 220,427,818UniSTSGRCh37
Build 362220,135,816 - 220,136,062RGDNCBI36
Celera2214,197,535 - 214,197,781RGD
Cytogenetic Map2q35UniSTS
HuRef2212,280,602 - 212,280,848UniSTS
REN53381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,427,795 - 220,428,020UniSTSGRCh37
Build 362220,136,039 - 220,136,264RGDNCBI36
Celera2214,197,758 - 214,197,983RGD
Cytogenetic Map2q35UniSTS
HuRef2212,280,825 - 212,281,050UniSTS
REN53382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,007 - 220,428,248UniSTSGRCh37
Build 362220,136,251 - 220,136,492RGDNCBI36
Celera2214,197,970 - 214,198,211RGD
Cytogenetic Map2q35UniSTS
HuRef2212,281,037 - 212,281,278UniSTS
REN53383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,228 - 220,428,482UniSTSGRCh37
Build 362220,136,472 - 220,136,726RGDNCBI36
Celera2214,198,191 - 214,198,445RGD
Cytogenetic Map2q35UniSTS
HuRef2212,281,258 - 212,281,512UniSTS
REN53384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,479 - 220,428,722UniSTSGRCh37
Build 362220,136,723 - 220,136,966RGDNCBI36
Celera2214,198,442 - 214,198,685RGD
Cytogenetic Map2q35UniSTS
HuRef2212,281,509 - 212,281,752UniSTS
REN53385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,685 - 220,428,929UniSTSGRCh37
Build 362220,136,929 - 220,137,173RGDNCBI36
Celera2214,198,648 - 214,198,892RGD
Cytogenetic Map2q35UniSTS
HuRef2212,281,715 - 212,281,959UniSTS
REN53386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,895 - 220,429,147UniSTSGRCh37
Build 362220,137,139 - 220,137,391RGDNCBI36
Celera2214,198,858 - 214,199,110RGD
Cytogenetic Map2q35UniSTS
HuRef2212,281,925 - 212,282,177UniSTS
REN53387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,124 - 220,429,374UniSTSGRCh37
Build 362220,137,368 - 220,137,618RGDNCBI36
Celera2214,199,087 - 214,199,337RGD
Cytogenetic Map2q35UniSTS
HuRef2212,282,154 - 212,282,404UniSTS
REN53388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,355 - 220,429,617UniSTSGRCh37
Build 362220,137,599 - 220,137,861RGDNCBI36
Celera2214,199,318 - 214,199,580RGD
Cytogenetic Map2q35UniSTS
HuRef2212,282,385 - 212,282,647UniSTS
REN53389  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,610 - 220,429,873UniSTSGRCh37
Build 362220,137,854 - 220,138,117RGDNCBI36
Celera2214,199,573 - 214,199,836RGD
Cytogenetic Map2q35UniSTS
HuRef2212,282,640 - 212,282,903UniSTS
REN53390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,850 - 220,430,110UniSTSGRCh37
Build 362220,138,094 - 220,138,354RGDNCBI36
Celera2214,199,813 - 214,200,073RGD
Cytogenetic Map2q35UniSTS
HuRef2212,282,880 - 212,283,140UniSTS
REN53391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,103 - 220,430,358UniSTSGRCh37
Build 362220,138,347 - 220,138,602RGDNCBI36
Celera2214,200,066 - 214,200,321RGD
Cytogenetic Map2q35UniSTS
HuRef2212,283,133 - 212,283,388UniSTS
REN53392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,335 - 220,430,595UniSTSGRCh37
Build 362220,138,579 - 220,138,839RGDNCBI36
Celera2214,200,298 - 214,200,558RGD
Cytogenetic Map2q35UniSTS
HuRef2212,283,365 - 212,283,625UniSTS
REN53393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,573 - 220,430,830UniSTSGRCh37
Build 362220,138,817 - 220,139,074RGDNCBI36
Celera2214,200,536 - 214,200,793RGD
Cytogenetic Map2q35UniSTS
HuRef2212,283,603 - 212,283,860UniSTS
REN53394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,803 - 220,431,034UniSTSGRCh37
Build 362220,139,047 - 220,139,278RGDNCBI36
Celera2214,200,766 - 214,200,997RGD
Cytogenetic Map2q35UniSTS
HuRef2212,283,833 - 212,284,064UniSTS
REN53395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,112 - 220,431,339UniSTSGRCh37
Build 362220,139,356 - 220,139,583RGDNCBI36
Celera2214,201,075 - 214,201,302RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,142 - 212,284,369UniSTS
REN53396  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,318 - 220,431,576UniSTSGRCh37
Build 362220,139,562 - 220,139,820RGDNCBI36
Celera2214,201,281 - 214,201,539RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,348 - 212,284,606UniSTS
REN53397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,545 - 220,431,786UniSTSGRCh37
Build 362220,139,789 - 220,140,030RGDNCBI36
Celera2214,201,508 - 214,201,749RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,575 - 212,284,816UniSTS
REN53398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,764 - 220,432,002UniSTSGRCh37
Build 362220,140,008 - 220,140,246RGDNCBI36
Celera2214,201,727 - 214,201,965RGD
Cytogenetic Map2q35UniSTS
HuRef2212,284,794 - 212,285,032UniSTS
REN53399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,000 - 220,432,241UniSTSGRCh37
Build 362220,140,244 - 220,140,485RGDNCBI36
Celera2214,201,963 - 214,202,204RGD
Cytogenetic Map2q35UniSTS
HuRef2212,285,030 - 212,285,271UniSTS
REN53400  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,236 - 220,432,468UniSTSGRCh37
Build 362220,140,480 - 220,140,712RGDNCBI36
Celera2214,202,199 - 214,202,431RGD
Cytogenetic Map2q35UniSTS
HuRef2212,285,266 - 212,285,498UniSTS
REN53401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,451 - 220,432,714UniSTSGRCh37
Build 362220,140,695 - 220,140,958RGDNCBI36
Celera2214,202,414 - 214,202,677RGD
Cytogenetic Map2q35UniSTS
HuRef2212,285,481 - 212,285,744UniSTS
REN53402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,707 - 220,432,974UniSTSGRCh37
Build 362220,140,951 - 220,141,218RGDNCBI36
Celera2214,202,670 - 214,202,937RGD
Cytogenetic Map2q35UniSTS
HuRef2212,285,737 - 212,286,004UniSTS
REN53403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,972 - 220,433,216UniSTSGRCh37
Build 362220,141,216 - 220,141,460RGDNCBI36
Celera2214,202,935 - 214,203,179RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,002 - 212,286,246UniSTS
REN53404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,208 - 220,433,451UniSTSGRCh37
Build 362220,141,452 - 220,141,695RGDNCBI36
Celera2214,203,171 - 214,203,414RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,238 - 212,286,481UniSTS
REN53405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,379 - 220,433,613UniSTSGRCh37
GRCh372220,433,335 - 220,433,613UniSTSGRCh37
Build 362220,141,579 - 220,141,857RGDNCBI36
Celera2214,203,342 - 214,203,576UniSTS
Celera2214,203,298 - 214,203,576RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,365 - 212,286,643UniSTS
HuRef2212,286,409 - 212,286,643UniSTS
REN53406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,585 - 220,433,848UniSTSGRCh37
Build 362220,141,829 - 220,142,092RGDNCBI36
Celera2214,203,548 - 214,203,811RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,615 - 212,286,879UniSTS
REN53407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,825 - 220,434,070UniSTSGRCh37
Build 362220,142,069 - 220,142,314RGDNCBI36
Celera2214,203,788 - 214,204,033RGD
Cytogenetic Map2q35UniSTS
HuRef2212,286,856 - 212,287,101UniSTS
REN53408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,047 - 220,434,288UniSTSGRCh37
Build 362220,142,291 - 220,142,532RGDNCBI36
Celera2214,204,010 - 214,204,251RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,078 - 212,287,319UniSTS
REN53409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,272 - 220,434,506UniSTSGRCh37
Build 362220,142,516 - 220,142,750RGDNCBI36
Celera2214,204,235 - 214,204,469RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,303 - 212,287,537UniSTS
REN53410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,485 - 220,434,732UniSTSGRCh37
Build 362220,142,729 - 220,142,976RGDNCBI36
Celera2214,204,448 - 214,204,695RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,516 - 212,287,763UniSTS
REN53411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,716 - 220,434,959UniSTSGRCh37
Build 362220,142,960 - 220,143,203RGDNCBI36
Celera2214,204,679 - 214,204,922RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,747 - 212,287,990UniSTS
REN53412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,434,932 - 220,435,200UniSTSGRCh37
Build 362220,143,176 - 220,143,444RGDNCBI36
Celera2214,204,895 - 214,205,163RGD
Cytogenetic Map2q35UniSTS
HuRef2212,287,963 - 212,288,231UniSTS
REN53413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,435,178 - 220,435,450UniSTSGRCh37
Build 362220,143,422 - 220,143,694RGDNCBI36
Celera2214,205,141 - 214,205,413RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,288,209 - 212,288,481UniSTS
REN53414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,435,329 - 220,435,554UniSTSGRCh37
Build 362220,143,573 - 220,143,798RGDNCBI36
Celera2214,205,292 - 214,205,517RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,288,360 - 212,288,585UniSTS
REN53415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,435,536 - 220,435,793UniSTSGRCh37
Build 362220,143,780 - 220,144,037RGDNCBI36
Celera2214,205,499 - 214,205,756RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
REN53416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,189 - 220,436,425UniSTSGRCh37
Build 362220,144,433 - 220,144,669RGDNCBI36
Celera2214,206,152 - 214,206,388RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,219 - 212,289,455UniSTS
REN53417  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,402 - 220,436,627UniSTSGRCh37
Build 362220,144,646 - 220,144,871RGDNCBI36
Celera2214,206,365 - 214,206,590RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,432 - 212,289,657UniSTS
REN53418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,599 - 220,436,841UniSTSGRCh37
Build 362220,144,843 - 220,145,085RGDNCBI36
Celera2214,206,562 - 214,206,804RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,629 - 212,289,869UniSTS
REN53419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,808 - 220,437,032UniSTSGRCh37
Build 362220,145,052 - 220,145,276RGDNCBI36
Celera2214,206,771 - 214,206,995RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,289,836 - 212,290,060UniSTS
REN53420  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,006 - 220,437,260UniSTSGRCh37
Build 362220,145,250 - 220,145,504RGDNCBI36
Celera2214,206,969 - 214,207,223RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,034 - 212,290,288UniSTS
REN53421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,242 - 220,437,488UniSTSGRCh37
Build 362220,145,486 - 220,145,732RGDNCBI36
Celera2214,207,205 - 214,207,451RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,270 - 212,290,516UniSTS
REN53422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,439 - 220,437,698UniSTSGRCh37
Build 362220,145,683 - 220,145,942RGDNCBI36
Celera2214,207,402 - 214,207,661RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,467 - 212,290,726UniSTS
REN53423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,679 - 220,437,914UniSTSGRCh37
Build 362220,145,923 - 220,146,158RGDNCBI36
Celera2214,207,642 - 214,207,877RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,707 - 212,290,942UniSTS
REN53424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,437,896 - 220,438,159UniSTSGRCh37
Build 362220,146,140 - 220,146,403RGDNCBI36
Celera2214,207,859 - 214,208,122RGD
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33-q36UniSTS
HuRef2212,290,924 - 212,291,187UniSTS
RH11732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,525 - 220,426,700UniSTSGRCh37
Build 362220,134,769 - 220,134,944RGDNCBI36
Celera2214,196,488 - 214,196,663RGD
Cytogenetic Map2q35UniSTS
HuRef2212,279,555 - 212,279,730UniSTS
GeneMap99-GB4 RH Map2683.77UniSTS
stSG633085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,415,843 - 220,416,930UniSTSGRCh37
Build 362220,124,087 - 220,125,174RGDNCBI36
Celera2214,185,806 - 214,186,893RGD
Cytogenetic Map2q35UniSTS
HuRef2212,268,873 - 212,269,960UniSTS
stSG633087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,418,298 - 220,419,620UniSTSGRCh37
Build 362220,126,542 - 220,127,864RGDNCBI36
Celera2214,188,261 - 214,189,583RGD
HuRef2212,271,328 - 212,272,650UniSTS
stSG633088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,419,601 - 220,420,951UniSTSGRCh37
Build 362220,127,845 - 220,129,195RGDNCBI36
Celera2214,189,564 - 214,190,913RGD
HuRef2212,272,631 - 212,273,980UniSTS
stSG633089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,420,948 - 220,421,947UniSTSGRCh37
Build 362220,129,192 - 220,130,191RGDNCBI36
Celera2214,190,910 - 214,191,909RGD
HuRef2212,273,977 - 212,274,976UniSTS
stSG633090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,421,988 - 220,423,299UniSTSGRCh37
Build 362220,130,232 - 220,131,543RGDNCBI36
Celera2214,191,950 - 214,193,261RGD
HuRef2212,275,017 - 212,276,328UniSTS
stSG633091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,423,278 - 220,424,305UniSTSGRCh37
Build 362220,131,522 - 220,132,549RGDNCBI36
Celera2214,193,240 - 214,194,267RGD
HuRef2212,276,307 - 212,277,334UniSTS
stSG633093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,425,698 - 220,426,998UniSTSGRCh37
Build 362220,133,942 - 220,135,242RGDNCBI36
Celera2214,195,660 - 214,196,961RGD
HuRef2212,278,727 - 212,280,028UniSTS
stSG633094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,426,981 - 220,428,452UniSTSGRCh37
Build 362220,135,225 - 220,136,696RGDNCBI36
Celera2214,196,944 - 214,198,415RGD
HuRef2212,280,011 - 212,281,482UniSTS
stSG633095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,428,434 - 220,429,876UniSTSGRCh37
Build 362220,136,678 - 220,138,120RGDNCBI36
Celera2214,198,397 - 214,199,839RGD
HuRef2212,281,464 - 212,282,906UniSTS
stSG633096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,429,857 - 220,430,158UniSTSGRCh37
Build 362220,138,101 - 220,138,402RGDNCBI36
Celera2214,199,820 - 214,200,121RGD
HuRef2212,282,887 - 212,283,188UniSTS
stSG633097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,430,185 - 220,431,365UniSTSGRCh37
Build 362220,138,429 - 220,139,609RGDNCBI36
Celera2214,200,148 - 214,201,328RGD
HuRef2212,283,215 - 212,284,395UniSTS
stSG633098  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,431,346 - 220,432,654UniSTSGRCh37
Build 362220,139,590 - 220,140,898RGDNCBI36
Celera2214,201,309 - 214,202,617RGD
HuRef2212,284,376 - 212,285,684UniSTS
stSG633099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,432,635 - 220,433,958UniSTSGRCh37
Build 362220,140,879 - 220,142,202RGDNCBI36
Celera2214,202,598 - 214,203,921RGD
HuRef2212,285,665 - 212,286,989UniSTS
stSG633100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,433,950 - 220,435,046UniSTSGRCh37
Build 362220,142,194 - 220,143,290RGDNCBI36
Celera2214,203,913 - 214,205,009RGD
HuRef2212,286,981 - 212,288,077UniSTS
stSG633102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372220,436,545 - 220,437,934UniSTSGRCh37
Build 362220,144,789 - 220,146,178RGDNCBI36
Celera2214,206,508 - 214,207,897RGD
HuRef2212,289,575 - 212,290,962UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6042
Count of miRNA genes:1140
Interacting mature miRNAs:1445
Transcripts:ENST00000265317, ENST00000265318, ENST00000289656, ENST00000373873, ENST00000373876, ENST00000404537, ENST00000456147, ENST00000462385, ENST00000462534, ENST00000465149, ENST00000465589, ENST00000472388, ENST00000489804, ENST00000491370, ENST00000596474, ENST00000603926, ENST00000604031
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2038 2139 1513 415 371 260 4294 2087 3142 340 1413 1524 165 1197 2755 3
Low 340 159 204 202 314 199 61 105 589 77 41 78 8 1 7 33 3 1
Below cutoff 35 680 8 6 995 6 2 3 2 4 8 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK904385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB475523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF063637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF063638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  F30329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000289656   ⟹   ENSP00000289656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,561,747 - 219,571,464 (-)Ensembl
RefSeq Acc Id: ENST00000373873   ⟹   ENSP00000362980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,561,722 - 219,571,289 (-)Ensembl
RefSeq Acc Id: ENST00000373876   ⟹   ENSP00000362983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,550,756 - 219,571,241 (-)Ensembl
RefSeq Acc Id: ENST00000404537   ⟹   ENSP00000385636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,550,728 - 219,571,539 (-)Ensembl
RefSeq Acc Id: ENST00000456147   ⟹   ENSP00000403665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,555,763 - 219,559,431 (-)Ensembl
RefSeq Acc Id: ENST00000462385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,562,815 - 219,565,379 (-)Ensembl
RefSeq Acc Id: ENST00000462534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,550,729 - 219,552,389 (-)Ensembl
RefSeq Acc Id: ENST00000465149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,550,729 - 219,570,739 (-)Ensembl
RefSeq Acc Id: ENST00000465589
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,570,221 - 219,571,492 (-)Ensembl
RefSeq Acc Id: ENST00000472388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,556,242 - 219,557,027 (-)Ensembl
RefSeq Acc Id: ENST00000489804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,550,729 - 219,552,714 (-)Ensembl
RefSeq Acc Id: ENST00000491370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,570,458 - 219,571,859 (-)Ensembl
RefSeq Acc Id: ENST00000596474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,554,229 - 219,554,772 (-)Ensembl
RefSeq Acc Id: ENST00000603926   ⟹   ENSP00000474519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,555,166 - 219,571,289 (-)Ensembl
RefSeq Acc Id: ENST00000604031   ⟹   ENSP00000475126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2219,555,461 - 219,562,512 (-)Ensembl
RefSeq Acc Id: NM_001173408   ⟹   NP_001166879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,561,722 - 219,571,539 (-)NCBI
GRCh372220,415,450 - 220,436,357 (-)NCBI
Celera2214,185,413 - 214,206,231 (-)RGD
HuRef2212,268,480 - 212,289,298 (-)ENTREZGENE
CHM1_12220,432,259 - 220,442,089 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001173431   ⟹   NP_001166902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,555,149 - 219,571,539 (-)NCBI
GRCh372220,415,450 - 220,436,357 (-)NCBI
Celera2214,185,413 - 214,206,231 (-)RGD
HuRef2212,268,480 - 212,289,298 (-)ENTREZGENE
CHM1_12220,425,693 - 220,442,089 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015311   ⟹   NP_056126
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,550,728 - 219,571,539 (-)NCBI
GRCh372220,415,450 - 220,436,357 (-)NCBI
Build 362220,123,708 - 220,144,255 (-)NCBI Archive
Celera2214,185,413 - 214,206,231 (-)RGD
HuRef2212,268,480 - 212,289,298 (-)ENTREZGENE
CHM1_12220,421,271 - 220,442,089 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510857   ⟹   XP_011509159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,549,408 - 219,571,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510863   ⟹   XP_011509165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,552,987 - 219,571,566 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510864   ⟹   XP_011509166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,555,149 - 219,571,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510865   ⟹   XP_011509167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,554,432 - 219,571,565 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510866   ⟹   XP_011509168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,555,149 - 219,571,564 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003696   ⟹   XP_016859185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,550,728 - 219,571,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003697   ⟹   XP_016859186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,550,728 - 219,571,573 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003698   ⟹   XP_016859187
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,549,411 - 219,571,571 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003699   ⟹   XP_016859188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,549,409 - 219,571,572 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003700   ⟹   XP_016859189
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,549,412 - 219,571,570 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056126   ⟸   NM_015311
- Peptide Label: isoform 1 precursor
- UniProtKB: O75147 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001166902   ⟸   NM_001173431
- Peptide Label: isoform 2 precursor
- UniProtKB: O75147 (UniProtKB/Swiss-Prot),   Q9H8B3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166879   ⟸   NM_001173408
- Peptide Label: isoform 3 precursor
- UniProtKB: O75147 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509159   ⟸   XM_011510857
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509165   ⟸   XM_011510863
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011509167   ⟸   XM_011510865
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011509166   ⟸   XM_011510864
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011509168   ⟸   XM_011510866
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016859188   ⟸   XM_017003699
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016859187   ⟸   XM_017003698
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016859189   ⟸   XM_017003700
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016859186   ⟸   XM_017003697
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016859185   ⟸   XM_017003696
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000362980   ⟸   ENST00000373873
RefSeq Acc Id: ENSP00000362983   ⟸   ENST00000373876
RefSeq Acc Id: ENSP00000403665   ⟸   ENST00000456147
RefSeq Acc Id: ENSP00000385636   ⟸   ENST00000404537
RefSeq Acc Id: ENSP00000474519   ⟸   ENST00000603926
RefSeq Acc Id: ENSP00000289656   ⟸   ENST00000289656
RefSeq Acc Id: ENSP00000475126   ⟸   ENST00000604031
Protein Domains
Fibronectin type-III   Ig-like

Promoters
RGD ID:6862930
Promoter ID:EPDNEW_H4630
Type:initiation region
Name:OBSL1_1
Description:obscurin like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,571,205 - 219,571,265EPDNEW
RGD ID:6797897
Promoter ID:HG_KWN:37388
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000131423,   OTTHUMT00000145696
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,125,116 - 220,125,767 (-)MPROMDB
RGD ID:6797896
Promoter ID:HG_KWN:37391
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000131420
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,138,036 - 220,138,536 (-)MPROMDB
RGD ID:6797899
Promoter ID:HG_KWN:37392
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC010FWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,140,091 - 220,140,591 (-)MPROMDB
RGD ID:6797231
Promoter ID:HG_KWN:37394
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000265318,   ENST00000373876
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,143,464 - 220,143,964 (-)MPROMDB
RGD ID:6797898
Promoter ID:HG_KWN:37395
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:ENST00000265317,   NM_001173408,   NM_001173431,   NM_015311,   OTTHUMT00000131068,   OTTHUMT00000131419,   OTTHUMT00000131425,   OTTHUMT00000316468,   UC002VMJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,144,171 - 220,144,671 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
OBSL1, 1-BP INS, 1273A insertion Three M syndrome 2 [RCV000001100] Chr2:2q35 pathogenic
NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) single nucleotide variant Three M syndrome 2 [RCV000001101] Chr2:219568188 [GRCh38]
Chr2:220432910 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) deletion Three M syndrome 2 [RCV000001102] Chr2:219568072..219568081 [GRCh38]
Chr2:220432794..220432803 [GRCh37]
Chr2:2q35
pathogenic
OBSL1, 1-BP INS, 690C insertion Three M syndrome 2 [RCV000001103] Chr2:2q35 pathogenic
NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) single nucleotide variant Three M syndrome 2 [RCV000001104] Chr2:219567787 [GRCh38]
Chr2:220432509 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.4023C>T (p.Cys1341=) single nucleotide variant not provided [RCV000728051] Chr2:219557386 [GRCh38]
Chr2:220422108 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys) single nucleotide variant Tongue tie [RCV000735349] Chr2:219559471 [GRCh38]
Chr2:220424193 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) single nucleotide variant Tongue tie [RCV000735350]|not provided [RCV001270119] Chr2:219558345 [GRCh38]
Chr2:220423067 [GRCh37]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3
pathogenic
NM_015311.3(OBSL1):c.951C>A (p.Tyr317Ter) single nucleotide variant not provided [RCV000171333] Chr2:219570282 [GRCh38]
Chr2:220435004 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) single nucleotide variant Three M syndrome 2 [RCV000379523]|not provided [RCV000418261]|not specified [RCV000174131] Chr2:219557964 [GRCh38]
Chr2:220422686 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.5309-4C>G single nucleotide variant Three M syndrome 2 [RCV000393467]|not specified [RCV000175465] Chr2:219552220 [GRCh38]
Chr2:220416942 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) duplication Three M syndrome 2 [RCV000175869]|not provided [RCV000790703] Chr2:219568063..219568064 [GRCh38]
Chr2:220432785..220432786 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) single nucleotide variant Three M syndrome 2 [RCV000317448]|not provided [RCV000892515]|not specified [RCV000179490] Chr2:219565411 [GRCh38]
Chr2:220430133 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) single nucleotide variant Three M syndrome 2 [RCV001138605]|not provided [RCV000890678]|not specified [RCV000180649] Chr2:219559448 [GRCh38]
Chr2:220424170 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.3293G>A (p.Arg1098His) single nucleotide variant not provided [RCV000514390] Chr2:219558393 [GRCh38]
Chr2:220423115 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.119C>G (p.Pro40Arg) single nucleotide variant not provided [RCV000429518]|not specified [RCV000173447] Chr2:219571114 [GRCh38]
Chr2:220435836 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) single nucleotide variant Three M syndrome 2 [RCV000382515]|not specified [RCV000173448] Chr2:219570312 [GRCh38]
Chr2:220435034 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) single nucleotide variant Three M syndrome 2 [RCV000371643]|not specified [RCV000173449] Chr2:219570633 [GRCh38]
Chr2:220435355 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) single nucleotide variant Three M syndrome 2 [RCV001136666]|not provided [RCV000894720]|not specified [RCV000173450] Chr2:219570664 [GRCh38]
Chr2:220435386 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) single nucleotide variant not provided [RCV000173451] Chr2:219571158 [GRCh38]
Chr2:220435880 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3646G>A (p.Gly1216Ser) single nucleotide variant not provided [RCV000174132] Chr2:219557967 [GRCh38]
Chr2:220422689 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4376G>A (p.Arg1459Gln) single nucleotide variant not provided [RCV000174777] Chr2:219556253 [GRCh38]
Chr2:220420975 [GRCh37]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_015311.3(OBSL1):c.5400del (p.Leu1801fs) deletion not provided [RCV000175466] Chr2:219552125 [GRCh38]
Chr2:220416847 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) single nucleotide variant Three M syndrome 2 [RCV001143129]|not provided [RCV000178302] Chr2:219567511 [GRCh38]
Chr2:220432233 [GRCh37]
Chr2:2q35
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.2283G>A (p.Leu761=) single nucleotide variant not provided [RCV000179489] Chr2:219565366 [GRCh38]
Chr2:220430088 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2715G>T (p.Lys905Asn) single nucleotide variant not provided [RCV000180335] Chr2:219562640 [GRCh38]
Chr2:220427362 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.2(OBSL1):c.1273dupA (p.Thr425Asnfs) duplication Three M syndrome 2 [RCV000185570] Chr2:219568064 [GRCh38]
Chr2:220432786 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) single nucleotide variant Three M syndrome 2 [RCV000386747]|not provided [RCV000441738] Chr2:219557459 [GRCh38]
Chr2:220422181 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.3852C>T (p.Gly1284=) single nucleotide variant Three M syndrome 2 [RCV000261792] Chr2:219557557 [GRCh38]
Chr2:220422279 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) single nucleotide variant Three M syndrome 2 [RCV000388829] Chr2:219556234 [GRCh38]
Chr2:220420956 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1850G>A (p.Arg617His) single nucleotide variant Three M syndrome 2 [RCV000393642] Chr2:219567114 [GRCh38]
Chr2:220431836 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.82G>C (p.Glu28Gln) single nucleotide variant Three M syndrome 2 [RCV000403047] Chr2:219571151 [GRCh38]
Chr2:220435873 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) single nucleotide variant Three M syndrome 2 [RCV000403205]|not provided [RCV000968453]|not specified [RCV000303610] Chr2:219552642 [GRCh38]
Chr2:220417364 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.4147G>A (p.Val1383Ile) single nucleotide variant Three M syndrome 2 [RCV000404825] Chr2:219556643 [GRCh38]
Chr2:220421365 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) single nucleotide variant Three M syndrome 2 [RCV000292232] Chr2:219567292 [GRCh38]
Chr2:220432014 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1997_2049del (p.Gly666fs) deletion not provided [RCV000297340] Chr2:219566915..219566967 [GRCh38]
Chr2:220431637..220431689 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) single nucleotide variant Three M syndrome 2 [RCV000294356]|not provided [RCV000948630] Chr2:219556266 [GRCh38]
Chr2:220420988 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) single nucleotide variant Three M syndrome 2 [RCV000987037]|not specified [RCV000378784] Chr2:219552544 [GRCh38]
Chr2:220417266 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=) single nucleotide variant Three M syndrome 2 [RCV000277709]|not provided [RCV000886285]|not specified [RCV000361857] Chr2:219557404 [GRCh38]
Chr2:220422126 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) single nucleotide variant Three M syndrome 2 [RCV000264982]|not provided [RCV000967985]|not specified [RCV000289152] Chr2:219568092 [GRCh38]
Chr2:220432814 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) single nucleotide variant Three M syndrome 2 [RCV000271198] Chr2:219556063 [GRCh38]
Chr2:220420785 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn) single nucleotide variant Three M syndrome 2 [RCV000380871]|not provided [RCV000903662] Chr2:219567052 [GRCh38]
Chr2:220431774 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) single nucleotide variant Three M syndrome 2 [RCV000380807] Chr2:219556175 [GRCh38]
Chr2:220420897 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=) single nucleotide variant Three M syndrome 2 [RCV000383505]|not provided [RCV000890032] Chr2:219551536 [GRCh38]
Chr2:220416258 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) single nucleotide variant Three M syndrome 2 [RCV000365082] Chr2:219568235 [GRCh38]
Chr2:220432957 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn) single nucleotide variant Three M syndrome 2 [RCV000369865] Chr2:219557385 [GRCh38]
Chr2:220422107 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2690C>T (p.Ser897Leu) single nucleotide variant Three M syndrome 2 [RCV000370709] Chr2:219562665 [GRCh38]
Chr2:220427387 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) single nucleotide variant Three M syndrome 2 [RCV000375995] Chr2:219556505 [GRCh38]
Chr2:220421227 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) single nucleotide variant Three M syndrome 2 [RCV000279198]|not provided [RCV000224851]|not specified [RCV000286452] Chr2:219556598 [GRCh38]
Chr2:220421320 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) single nucleotide variant Three M syndrome 2 [RCV000358435]|not provided [RCV000388807] Chr2:219556041 [GRCh38]
Chr2:220420763 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) single nucleotide variant Three M syndrome 2 [RCV000340548]|not provided [RCV000948633]|not specified [RCV000377676] Chr2:219558403 [GRCh38]
Chr2:220423125 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.3680G>A (p.Arg1227His) single nucleotide variant Three M syndrome 2 [RCV000341349] Chr2:219557933 [GRCh38]
Chr2:220422655 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) single nucleotide variant Three M syndrome 2 [RCV000341440]|not specified [RCV000352312] Chr2:219570653 [GRCh38]
Chr2:220435375 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.-209C>G single nucleotide variant Three M syndrome 2 [RCV000285828] Chr2:219571441 [GRCh38]
Chr2:220436163 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.593C>A (p.Ala198Glu) single nucleotide variant Three M syndrome 2 [RCV000279375] Chr2:219570640 [GRCh38]
Chr2:220435362 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) single nucleotide variant Three M syndrome 2 [RCV000282793] Chr2:219558052 [GRCh38]
Chr2:220422774 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) single nucleotide variant Three M syndrome 2 [RCV000268251] Chr2:219565481 [GRCh38]
Chr2:220430203 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.-43del deletion Three M syndrome [RCV000273904] Chr2:219571275 [GRCh38]
Chr2:220435997 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.4067-12C>T single nucleotide variant Three M syndrome 2 [RCV000269319] Chr2:219556735 [GRCh38]
Chr2:220421457 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) single nucleotide variant Three M syndrome 2 [RCV000269952] Chr2:219556188 [GRCh38]
Chr2:220420910 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1075G>A (p.Val359Met) single nucleotide variant Three M syndrome 2 [RCV000272768] Chr2:219568262 [GRCh38]
Chr2:220432984 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4778G>A (p.Arg1593His) single nucleotide variant Three M syndrome 2 [RCV000267131]|not provided [RCV000881106] Chr2:219554572 [GRCh38]
Chr2:220419294 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2721T>C (p.Tyr907=) single nucleotide variant Three M syndrome 2 [RCV000313745] Chr2:219562634 [GRCh38]
Chr2:220427356 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4877-15C>G single nucleotide variant Three M syndrome 2 [RCV000397597] Chr2:219553701 [GRCh38]
Chr2:220418423 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2656G>A (p.Ala886Thr) single nucleotide variant Three M syndrome 2 [RCV000299871] Chr2:219563379 [GRCh38]
Chr2:220428101 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.762C>T (p.Thr254=) single nucleotide variant Three M syndrome 2 [RCV000333889]|not provided [RCV000905677] Chr2:219570471 [GRCh38]
Chr2:220435193 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) single nucleotide variant Three M syndrome 2 [RCV000301436]|not provided [RCV000958594] Chr2:219567740 [GRCh38]
Chr2:220432462 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.4181G>A (p.Arg1394His) single nucleotide variant Three M syndrome 2 [RCV000336300] Chr2:219556609 [GRCh38]
Chr2:220421331 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2085C>T (p.Val695=) single nucleotide variant Three M syndrome 2 [RCV000378080] Chr2:219566879 [GRCh38]
Chr2:220431601 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4941G>T (p.Thr1647=) single nucleotide variant Three M syndrome 2 [RCV000337221] Chr2:219553622 [GRCh38]
Chr2:220418344 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4334G>A (p.Arg1445Gln) single nucleotide variant Three M syndrome 2 [RCV000337636] Chr2:219556456 [GRCh38]
Chr2:220421178 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2587C>T (p.Arg863Cys) single nucleotide variant Three M syndrome 2 [RCV000357097] Chr2:219563448 [GRCh38]
Chr2:220428170 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) single nucleotide variant Three M syndrome 2 [RCV000402769] Chr2:219556695 [GRCh38]
Chr2:220421417 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1887C>T (p.Asp629=) single nucleotide variant Three M syndrome 2 [RCV000288775] Chr2:219567077 [GRCh38]
Chr2:220431799 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) single nucleotide variant Three M syndrome 2 [RCV000303609] Chr2:219554617 [GRCh38]
Chr2:220419339 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=) single nucleotide variant Three M syndrome 2 [RCV000319275] Chr2:219557593 [GRCh38]
Chr2:220422315 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.660G>C (p.Ala220=) single nucleotide variant Three M syndrome 2 [RCV000338034]|not provided [RCV000911283] Chr2:219570573 [GRCh38]
Chr2:220435295 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) single nucleotide variant Three M syndrome 2 [RCV000404526] Chr2:219562625 [GRCh38]
Chr2:220427347 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2077G>T (p.Ala693Ser) single nucleotide variant Three M syndrome 2 [RCV000290049] Chr2:219566887 [GRCh38]
Chr2:220431609 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1317C>T (p.Asp439=) single nucleotide variant Three M syndrome 2 [RCV000305049] Chr2:219567935 [GRCh38]
Chr2:220432657 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2101G>A (p.Gly701Ser) single nucleotide variant Three M syndrome 2 [RCV000321045] Chr2:219566863 [GRCh38]
Chr2:220431585 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) single nucleotide variant Three M syndrome 2 [RCV000339934]|not provided [RCV000948631] Chr2:219556673 [GRCh38]
Chr2:220421395 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) single nucleotide variant Three M syndrome 2 [RCV000340192] Chr2:219571137 [GRCh38]
Chr2:220435859 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.2188A>C (p.Thr730Pro) single nucleotide variant Three M syndrome 2 [RCV000360602] Chr2:219565461 [GRCh38]
Chr2:220430183 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1590C>T (p.His530=) single nucleotide variant Three M syndrome 2 [RCV000406049] Chr2:219567520 [GRCh38]
Chr2:220432242 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) single nucleotide variant Three M syndrome 2 [RCV000362048]|not provided [RCV000893205] Chr2:219568082 [GRCh38]
Chr2:220432804 [GRCh37]
Chr2:2q35
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.3242T>C (p.Ile1081Thr) single nucleotide variant Three M syndrome 2 [RCV000408256]|not provided [RCV000593081] Chr2:219558444 [GRCh38]
Chr2:220423166 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) single nucleotide variant Three M syndrome 2 [RCV000291489]|not provided [RCV000934149] Chr2:219562468 [GRCh38]
Chr2:220427190 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.1151G>A (p.Arg384His) single nucleotide variant Three M syndrome 2 [RCV000322478] Chr2:219568186 [GRCh38]
Chr2:220432908 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-42del deletion Three M syndrome [RCV000362603] Chr2:219571274 [GRCh38]
Chr2:220435996 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.750C>T (p.Cys250=) single nucleotide variant Three M syndrome 2 [RCV000386091] Chr2:219570483 [GRCh38]
Chr2:220435205 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) single nucleotide variant Three M syndrome 2 [RCV000308207] Chr2:219557377 [GRCh38]
Chr2:220422099 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.2817G>A (p.Val939=) single nucleotide variant Three M syndrome 2 [RCV000344160] Chr2:219562538 [GRCh38]
Chr2:220427260 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1035G>A (p.Arg345=) single nucleotide variant Three M syndrome 2 [RCV000325595]|not provided [RCV000917024] Chr2:219568302 [GRCh38]
Chr2:220433024 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.4067-11G>A single nucleotide variant Three M syndrome 2 [RCV000366185] Chr2:219556734 [GRCh38]
Chr2:220421456 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.729G>A (p.Pro243=) single nucleotide variant Three M syndrome 2 [RCV000294181]|not provided [RCV000982664] Chr2:219570504 [GRCh38]
Chr2:220435226 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.4067-11G>T single nucleotide variant Three M syndrome 2 [RCV000309259] Chr2:219556734 [GRCh38]
Chr2:220421456 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.851G>A (p.Arg284His) single nucleotide variant Three M syndrome 2 [RCV000295250]|not provided [RCV000899815] Chr2:219570382 [GRCh38]
Chr2:220435104 [GRCh37]
Chr2:2q35
benign|likely benign|uncertain significance
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) single nucleotide variant Three M syndrome 2 [RCV000328631] Chr2:219566909 [GRCh38]
Chr2:220431631 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn) single nucleotide variant Three M syndrome 2 [RCV000328536]|not provided [RCV000909499] Chr2:219556152 [GRCh38]
Chr2:220420874 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.*102_*103insTA insertion Three M syndrome [RCV000328972] Chr2:219550732..219550733 [GRCh38]
Chr2:220415454..220415455 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) single nucleotide variant Three M syndrome 2 [RCV000330461]|not provided [RCV000997681] Chr2:219557404 [GRCh38]
Chr2:220422126 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-42T>C single nucleotide variant Three M syndrome 2 [RCV000370819] Chr2:219571274 [GRCh38]
Chr2:220435996 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) single nucleotide variant Three M syndrome 2 [RCV000371580] Chr2:219557861 [GRCh38]
Chr2:220422583 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) single nucleotide variant Three M syndrome 2 [RCV000395194] Chr2:219562673 [GRCh38]
Chr2:220427395 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) single nucleotide variant Three M syndrome 2 [RCV000297604] Chr2:219554514 [GRCh38]
Chr2:220419236 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.-51A>C single nucleotide variant Three M syndrome 2 [RCV000331225] Chr2:219571283 [GRCh38]
Chr2:220436005 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4440C>T (p.Ala1480=) single nucleotide variant Three M syndrome 2 [RCV000331924] Chr2:219556189 [GRCh38]
Chr2:220420911 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) single nucleotide variant Three M syndrome 2 [RCV000350654] Chr2:219567080 [GRCh38]
Chr2:220431802 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.-208G>C single nucleotide variant Three M syndrome 2 [RCV000373276] Chr2:219571440 [GRCh38]
Chr2:220436162 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.-43_-42del deletion Three M syndrome [RCV000270175] Chr2:219571274..219571275 [GRCh38]
Chr2:220435996..220435997 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.380C>T (p.Ala127Val) single nucleotide variant not provided [RCV000373867] Chr2:219570853 [GRCh38]
Chr2:220435575 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2261A>G (p.Gln754Arg) single nucleotide variant Three M syndrome 2 [RCV000259911] Chr2:219565388 [GRCh38]
Chr2:220430110 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) single nucleotide variant not provided [RCV000345954] Chr2:219556668 [GRCh38]
Chr2:220421390 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-43dup duplication Three M syndrome [RCV000313540] Chr2:219571274..219571275 [GRCh38]
Chr2:220435996..220435997 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2424C>A (p.Ile808=) single nucleotide variant not provided [RCV000281074] Chr2:219563611 [GRCh38]
Chr2:220428333 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1954del (p.Glu652fs) deletion not provided [RCV000332884] Chr2:219567010 [GRCh38]
Chr2:220431732 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) single nucleotide variant Three M syndrome 2 [RCV001136668]|not provided [RCV000386544] Chr2:219570836 [GRCh38]
Chr2:220435558 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) single nucleotide variant not provided [RCV000879949]|not specified [RCV000386843] Chr2:219570810 [GRCh38]
Chr2:220435532 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.1283-9G>A single nucleotide variant not provided [RCV000388984] Chr2:219567978 [GRCh38]
Chr2:220432700 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-165G>C single nucleotide variant Three M syndrome 2 [RCV000263382] Chr2:219571397 [GRCh38]
Chr2:220436119 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) single nucleotide variant Three M syndrome 2 [RCV000765612]|not provided [RCV000354453] Chr2:219557472 [GRCh38]
Chr2:220422194 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1318G>A (p.Val440Ile) single nucleotide variant not provided [RCV000259856] Chr2:219567934 [GRCh38]
Chr2:220432656 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1775T>A (p.Ile592Asn) single nucleotide variant not provided [RCV000327347] Chr2:219567335 [GRCh38]
Chr2:220432057 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) single nucleotide variant not provided [RCV000262485] Chr2:219570891 [GRCh38]
Chr2:220435613 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.3962G>T (p.Gly1321Val) single nucleotide variant not provided [RCV000297947] Chr2:219557447 [GRCh38]
Chr2:220422169 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3684A>G (p.Arg1228=) single nucleotide variant Three M syndrome 2 [RCV000279293] Chr2:219557929 [GRCh38]
Chr2:220422651 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=) single nucleotide variant Three M syndrome 2 [RCV001138602]|not provided [RCV000948634]|not specified [RCV000267892] Chr2:219559292 [GRCh38]
Chr2:220424014 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) single nucleotide variant not provided [RCV000301325] Chr2:219568122 [GRCh38]
Chr2:220432844 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2135-7CA[2] microsatellite Three M syndrome 2 [RCV000490329]|not provided [RCV000913252] Chr2:219565516..219565517 [GRCh38]
Chr2:220430238..220430239 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015311.3(OBSL1):c.4829C>A (p.Ser1610Tyr) single nucleotide variant Three M syndrome 2 [RCV000361808] Chr2:219554521 [GRCh38]
Chr2:220419243 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-190C>T single nucleotide variant Three M syndrome 2 [RCV000316189] Chr2:219571422 [GRCh38]
Chr2:220436144 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.557A>G (p.Asp186Gly) single nucleotide variant Three M syndrome 2 [RCV000403859] Chr2:219570676 [GRCh38]
Chr2:220435398 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4128T>C (p.Asp1376=) single nucleotide variant Three M syndrome 2 [RCV000306133] Chr2:219556662 [GRCh38]
Chr2:220421384 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1787G>A (p.Ser596Asn) single nucleotide variant Three M syndrome 2 [RCV000349473] Chr2:219567323 [GRCh38]
Chr2:220432045 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5270C>T (p.Pro1757Leu) single nucleotide variant Three M syndrome 2 [RCV000350103] Chr2:219552574 [GRCh38]
Chr2:220417296 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1390G>T (p.Asp464Tyr) single nucleotide variant Three M syndrome 2 [RCV000405004] Chr2:219567862 [GRCh38]
Chr2:220432584 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1404G>A (p.Leu468=) single nucleotide variant Three M syndrome 2 [RCV000353990] Chr2:219567848 [GRCh38]
Chr2:220432570 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.56G>A (p.Arg19Gln) single nucleotide variant Three M syndrome 2 [RCV000310180] Chr2:219571177 [GRCh38]
Chr2:220435899 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-97A>G single nucleotide variant Three M syndrome 2 [RCV000374212] Chr2:219571329 [GRCh38]
Chr2:220436051 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5657G>A (p.Ser1886Asn) single nucleotide variant Three M syndrome 2 [RCV000288877] Chr2:219551555 [GRCh38]
Chr2:220416277 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5101G>A (p.Ala1701Thr) single nucleotide variant Three M syndrome 2 [RCV000300963] Chr2:219552913 [GRCh38]
Chr2:220417635 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.189C>G (p.Asp63Glu) single nucleotide variant Three M syndrome 2 [RCV000301544] Chr2:219571044 [GRCh38]
Chr2:220435766 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5400A>T (p.Leu1800=) single nucleotide variant Three M syndrome 2 [RCV000343906] Chr2:219552125 [GRCh38]
Chr2:220416847 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1151G>C (p.Arg384Pro) single nucleotide variant Three M syndrome 2 [RCV001138809] Chr2:219568186 [GRCh38]
Chr2:220432908 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.268G>A (p.Ala90Thr) single nucleotide variant Three M syndrome 2 [RCV001138905] Chr2:219570965 [GRCh38]
Chr2:220435687 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4609+12G>A single nucleotide variant Three M syndrome 2 [RCV001138383] Chr2:219556008 [GRCh38]
Chr2:220420730 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.903C>T (p.Gly301=) single nucleotide variant not provided [RCV000900973]|not specified [RCV000598395] Chr2:219570330 [GRCh38]
Chr2:220435052 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.3127C>T (p.Arg1043Cys) single nucleotide variant Three M syndrome 2 [RCV001138603] Chr2:219559324 [GRCh38]
Chr2:220424046 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2977C>T (p.Pro993Ser) single nucleotide variant Three M syndrome 2 [RCV001138607] Chr2:219559474 [GRCh38]
Chr2:220424196 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1500C>G (p.Gly500=) single nucleotide variant not provided [RCV000591065] Chr2:219567752 [GRCh38]
Chr2:220432474 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2315G>A (p.Arg772His) single nucleotide variant not provided [RCV000591130] Chr2:219565334 [GRCh38]
Chr2:220430056 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
NM_015311.3(OBSL1):c.500C>T (p.Ala167Val) single nucleotide variant not provided [RCV000591277] Chr2:219570733 [GRCh38]
Chr2:220435455 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2103C>T (p.Gly701=) single nucleotide variant Three M syndrome 2 [RCV001138700] Chr2:219566861 [GRCh38]
Chr2:220431583 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) single nucleotide variant not provided [RCV000592126] Chr2:219563569 [GRCh38]
Chr2:220428291 [GRCh37]
Chr2:2q35
conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.751G>T (p.Ala251Ser) single nucleotide variant not provided [RCV000900988]|not specified [RCV000592105] Chr2:219570482 [GRCh38]
Chr2:220435204 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2681-7C>T single nucleotide variant not provided [RCV000733027] Chr2:219562681 [GRCh38]
Chr2:220427403 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) single nucleotide variant not provided [RCV000730047] Chr2:219554538 [GRCh38]
Chr2:220419260 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2474del (p.Val825fs) deletion Three M syndrome 2 [RCV000415144] Chr2:219563561 [GRCh38]
Chr2:220428283 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) single nucleotide variant Three M syndrome 2 [RCV000415461] Chr2:219557454 [GRCh38]
Chr2:220422176 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.2789G>A (p.Arg930His) single nucleotide variant not provided [RCV000728898] Chr2:219562566 [GRCh38]
Chr2:220427288 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3128G>A (p.Arg1043His) single nucleotide variant not provided [RCV000733953] Chr2:219559323 [GRCh38]
Chr2:220424045 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) single nucleotide variant Three M syndrome 2 [RCV001136669]|not provided [RCV000733954] Chr2:219570858 [GRCh38]
Chr2:220435580 [GRCh37]
Chr2:2q35
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) single nucleotide variant Three M syndrome 2 [RCV001140965]|not provided [RCV000952832]|not specified [RCV000729038] Chr2:219556268 [GRCh38]
Chr2:220420990 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) single nucleotide variant not provided [RCV000729039] Chr2:219570240 [GRCh38]
Chr2:220434962 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2056G>A (p.Val686Ile) single nucleotide variant not provided [RCV000733435] Chr2:219566908 [GRCh38]
Chr2:220431630 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV000594900] Chr2:219567945 [GRCh38]
Chr2:220432667 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) single nucleotide variant Three M syndrome 2 [RCV001138066]|not provided [RCV000482025] Chr2:219556721 [GRCh38]
Chr2:220421443 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015311.3(OBSL1):c.2032C>T (p.Gln678Ter) single nucleotide variant not provided [RCV000494006] Chr2:219566932 [GRCh38]
Chr2:220431654 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015311.3(OBSL1):c.4445G>A (p.Arg1482His) single nucleotide variant not provided [RCV000595654] Chr2:219556184 [GRCh38]
Chr2:220420906 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.690dup (p.Glu231fs) duplication Short stature [RCV000626927]|Three M syndrome 2 [RCV000001103] Chr2:219570542..219570543 [GRCh38]
Chr2:220435264..220435265 [GRCh37]
Chr2:2q35
pathogenic|likely pathogenic
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) single nucleotide variant Three M syndrome 2 [RCV001138381]|not provided [RCV000595636] Chr2:219554618 [GRCh38]
Chr2:220419340 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) indel Three M syndrome 2 [RCV000754639] Chr2:219570775..219570776 [GRCh38]
Chr2:220435497..220435498 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.1074C>T (p.Ala358=) single nucleotide variant not provided [RCV000918791] Chr2:219568263 [GRCh38]
Chr2:220432985 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4396G>A (p.Val1466Met) single nucleotide variant not provided [RCV000762323] Chr2:219556233 [GRCh38]
Chr2:220420955 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1474G>A (p.Ala492Thr) single nucleotide variant not provided [RCV000762324] Chr2:219567778 [GRCh38]
Chr2:220432500 [GRCh37]
Chr2:2q35
uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_015311.3(OBSL1):c.2190C>G (p.Thr730=) single nucleotide variant not provided [RCV000972695] Chr2:219565459 [GRCh38]
Chr2:220430181 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2541G>A (p.Val847=) single nucleotide variant not provided [RCV000902732] Chr2:219563494 [GRCh38]
Chr2:220428216 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3323C>G (p.Ala1108Gly) single nucleotide variant not provided [RCV000921296] Chr2:219558363 [GRCh38]
Chr2:220423085 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.1158C>T (p.Tyr386=) single nucleotide variant Three M syndrome 2 [RCV001138808]|not provided [RCV000925639] Chr2:219568179 [GRCh38]
Chr2:220432901 [GRCh37]
Chr2:2q35
benign|uncertain significance
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) single nucleotide variant Three M syndrome 2 [RCV001142909]|not provided [RCV000904989] Chr2:219558009 [GRCh38]
Chr2:220422731 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.5414-10C>T single nucleotide variant not provided [RCV000923020] Chr2:219551808 [GRCh38]
Chr2:220416530 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.822G>A (p.Glu274=) single nucleotide variant not provided [RCV000903402] Chr2:219570411 [GRCh38]
Chr2:220435133 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3444C>T (p.Ala1148=) single nucleotide variant Three M syndrome 2 [RCV001142912]|not provided [RCV000905718] Chr2:219558242 [GRCh38]
Chr2:220422964 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.3753C>T (p.Pro1251=) single nucleotide variant not provided [RCV000900972] Chr2:219557860 [GRCh38]
Chr2:220422582 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) single nucleotide variant Three M syndrome 2 [RCV001138701]|not provided [RCV000899764] Chr2:219566952 [GRCh38]
Chr2:220431674 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4610-7C>T single nucleotide variant not provided [RCV000982713] Chr2:219554747 [GRCh38]
Chr2:220419469 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) single nucleotide variant Three M syndrome 2 [RCV001138172]|not provided [RCV000948632] Chr2:219558287 [GRCh38]
Chr2:220423009 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1971C>T (p.Asn657=) single nucleotide variant not provided [RCV000915420] Chr2:219566993 [GRCh38]
Chr2:220431715 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3595C>T (p.Arg1199Trp) single nucleotide variant not provided [RCV000959842] Chr2:219558018 [GRCh38]
Chr2:220422740 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.2600C>A (p.Pro867His) single nucleotide variant not provided [RCV000924285] Chr2:219563435 [GRCh38]
Chr2:220428157 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.2619C>T (p.Asp873=) single nucleotide variant Three M syndrome 2 [RCV001143018]|not provided [RCV000903013] Chr2:219563416 [GRCh38]
Chr2:220428138 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.4092G>A (p.Ser1364=) single nucleotide variant not provided [RCV000924373] Chr2:219556698 [GRCh38]
Chr2:220421420 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) single nucleotide variant Three M syndrome 2 [RCV001138173]|not provided [RCV000893587] Chr2:219558296 [GRCh38]
Chr2:220423018 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) single nucleotide variant Three M syndrome 2 [RCV001138606]|not provided [RCV000904830] Chr2:219559470 [GRCh38]
Chr2:220424192 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.831C>A (p.Ile277=) single nucleotide variant not provided [RCV000922337] Chr2:219570402 [GRCh38]
Chr2:220435124 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4448G>A (p.Trp1483Ter) single nucleotide variant Three M syndrome 2 [RCV000779309] Chr2:219556181 [GRCh38]
Chr2:220420903 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) duplication Three M syndrome 2 [RCV000779310] Chr2:219562528..219562529 [GRCh38]
Chr2:220427250..220427251 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1277_1282+5del deletion Three M syndrome 1 [RCV000778117] Chr2:219568050..219568060 [GRCh38]
Chr2:220432772..220432782 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) single nucleotide variant Three M syndrome 1 [RCV000778118] Chr2:219568150 [GRCh38]
Chr2:220432872 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) duplication Three M syndrome 1 [RCV000778119] Chr2:219568211..219568212 [GRCh38]
Chr2:220432933..220432934 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) single nucleotide variant Three M syndrome 2 [RCV001138175]|not provided [RCV000898225] Chr2:219558382 [GRCh38]
Chr2:220423104 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4870G>C (p.Val1624Leu) single nucleotide variant not provided [RCV000922433] Chr2:219554480 [GRCh38]
Chr2:220419202 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.3082G>C (p.Glu1028Gln) single nucleotide variant not provided [RCV000888457] Chr2:219559369 [GRCh38]
Chr2:220424091 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.2637C>T (p.Cys879=) single nucleotide variant not provided [RCV000940516] Chr2:219563398 [GRCh38]
Chr2:220428120 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.546C>T (p.Gly182=) single nucleotide variant not provided [RCV000953343] Chr2:219570687 [GRCh38]
Chr2:220435409 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5147-14_5147-3dup duplication not provided [RCV000932232] Chr2:219552699..219552700 [GRCh38]
Chr2:220417421..220417422 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.705G>T (p.Ala235=) single nucleotide variant not provided [RCV000895492] Chr2:219570528 [GRCh38]
Chr2:220435250 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5684-4G>A single nucleotide variant not provided [RCV000941501] Chr2:219550846 [GRCh38]
Chr2:220415568 [GRCh37]
Chr2:2q35
likely benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_015311.3(OBSL1):c.2826C>T (p.Pro942=) single nucleotide variant not provided [RCV000893528] Chr2:219562529 [GRCh38]
Chr2:220427251 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3415A>C (p.Thr1139Pro) single nucleotide variant Three M syndrome 2 [RCV001138171] Chr2:219558271 [GRCh38]
Chr2:220422993 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) single nucleotide variant Three M syndrome 2 [RCV001138174] Chr2:219558331 [GRCh38]
Chr2:220423053 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) single nucleotide variant Three M syndrome 2 [RCV001136564] Chr2:219567941 [GRCh38]
Chr2:220432663 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1534+5G>C single nucleotide variant Three M syndrome 2 [RCV000987038] Chr2:219567713 [GRCh38]
Chr2:220432435 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.367T>C (p.Ser123Pro) single nucleotide variant Three M syndrome 2 [RCV001136670] Chr2:219570866 [GRCh38]
Chr2:220435588 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) single nucleotide variant Three M syndrome 2 [RCV001138065] Chr2:219556657 [GRCh38]
Chr2:220421379 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1737C>T (p.Gly579=) single nucleotide variant not provided [RCV000916938] Chr2:219567373 [GRCh38]
Chr2:220432095 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.463C>T (p.Pro155Ser) single nucleotide variant Three M syndrome 2 [RCV001136667] Chr2:219570770 [GRCh38]
Chr2:220435492 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2896G>A (p.Gly966Ser) single nucleotide variant Three M syndrome 2 [RCV001138608] Chr2:219562459 [GRCh38]
Chr2:220427181 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1966A>G (p.Ser656Gly) single nucleotide variant Three M syndrome 2 [RCV001138702] Chr2:219566998 [GRCh38]
Chr2:220431720 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.202G>A (p.Gly68Ser) single nucleotide variant Three M syndrome 2 [RCV001138906] Chr2:219571031 [GRCh38]
Chr2:220435753 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4018C>T (p.Leu1340=) single nucleotide variant Three M syndrome 2 [RCV001138492] Chr2:219557391 [GRCh38]
Chr2:220422113 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1237G>A (p.Glu413Lys) single nucleotide variant Three M syndrome 2 [RCV001138804] Chr2:219568100 [GRCh38]
Chr2:220432822 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1228T>C (p.Tyr410His) single nucleotide variant Three M syndrome 2 [RCV001138805] Chr2:219568109 [GRCh38]
Chr2:220432831 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1167C>T (p.Ile389=) single nucleotide variant Three M syndrome 2 [RCV001138807] Chr2:219568170 [GRCh38]
Chr2:220432892 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.142G>A (p.Gly48Ser) single nucleotide variant Three M syndrome 2 [RCV001138907] Chr2:219571091 [GRCh38]
Chr2:220435813 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3236A>T (p.Glu1079Val) single nucleotide variant not provided [RCV000997684] Chr2:219558450 [GRCh38]
Chr2:220423172 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) deletion not provided [RCV000997683] Chr2:219558284 [GRCh38]
Chr2:220423006 [GRCh37]
Chr2:2q35
likely pathogenic
NM_015311.3(OBSL1):c.3067T>C (p.Tyr1023His) single nucleotide variant not provided [RCV000997685] Chr2:219559384 [GRCh38]
Chr2:220424106 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1424G>A (p.Ser475Asn) single nucleotide variant not provided [RCV000997686] Chr2:219567828 [GRCh38]
Chr2:220432550 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3682C>G (p.Arg1228Gly) single nucleotide variant Three M syndrome 2 [RCV001142908] Chr2:219557931 [GRCh38]
Chr2:220422653 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5308+12T>G single nucleotide variant Three M syndrome 2 [RCV001140859] Chr2:219552524 [GRCh38]
Chr2:220417246 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln) single nucleotide variant Three M syndrome 2 [RCV001141055] Chr2:219557570 [GRCh38]
Chr2:220422292 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4950C>T (p.Cys1650=) single nucleotide variant Three M syndrome 2 [RCV001137964] Chr2:219553613 [GRCh38]
Chr2:220418335 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1365C>T (p.Ala455=) single nucleotide variant not provided [RCV000907797] Chr2:219567887 [GRCh38]
Chr2:220432609 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) single nucleotide variant Three M syndrome 2 [RCV001142708]|not provided [RCV000910006] Chr2:219552634 [GRCh38]
Chr2:220417356 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2697C>T (p.Ile899=) single nucleotide variant not provided [RCV000908549] Chr2:219562658 [GRCh38]
Chr2:220427380 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3309T>C (p.Cys1103=) single nucleotide variant not provided [RCV000907378] Chr2:219558377 [GRCh38]
Chr2:220423099 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=) single nucleotide variant Three M syndrome 2 [RCV001143125]|not provided [RCV000888276] Chr2:219567376 [GRCh38]
Chr2:220432098 [GRCh37]
Chr2:2q35
benign|likely benign
NM_015311.3(OBSL1):c.2595G>A (p.Val865=) single nucleotide variant not provided [RCV000916940] Chr2:219563440 [GRCh38]
Chr2:220428162 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.4990-6C>T single nucleotide variant not provided [RCV000923596] Chr2:219553030 [GRCh38]
Chr2:220417752 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5229G>T (p.Ser1743=) single nucleotide variant Three M syndrome 2 [RCV001142707]|not provided [RCV000932780] Chr2:219552615 [GRCh38]
Chr2:220417337 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2823C>T (p.Ser941=) single nucleotide variant not provided [RCV000955303] Chr2:219562532 [GRCh38]
Chr2:220427254 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.1999G>A (p.Ala667Thr) single nucleotide variant not provided [RCV000955304] Chr2:219566965 [GRCh38]
Chr2:220431687 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2408-8C>T single nucleotide variant not provided [RCV000974949] Chr2:219563635 [GRCh38]
Chr2:220428357 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) single nucleotide variant not provided [RCV000904433] Chr2:219553612 [GRCh38]
Chr2:220418334 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.2954-8C>T single nucleotide variant not provided [RCV000889010] Chr2:219559505 [GRCh38]
Chr2:220424227 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) single nucleotide variant Three M syndrome 2 [RCV001142704]|not provided [RCV000886436] Chr2:219552564 [GRCh38]
Chr2:220417286 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.3678C>T (p.Pro1226=) single nucleotide variant not provided [RCV000920747] Chr2:219557935 [GRCh38]
Chr2:220422657 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.5245G>A (p.Gly1749Arg) single nucleotide variant Three M syndrome 2 [RCV001142705] Chr2:219552599 [GRCh38]
Chr2:220417321 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3575T>C (p.Val1192Ala) single nucleotide variant Three M syndrome 2 [RCV001142911] Chr2:219558038 [GRCh38]
Chr2:220422760 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.765C>T (p.Phe255=) single nucleotide variant Three M syndrome 2 [RCV001143239] Chr2:219570468 [GRCh38]
Chr2:220435190 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.183G>A (p.Pro61=) single nucleotide variant not provided [RCV000891345] Chr2:219571050 [GRCh38]
Chr2:220435772 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser) single nucleotide variant Three M syndrome 2 [RCV001141054]|not provided [RCV000997682] Chr2:219557559 [GRCh38]
Chr2:220422281 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.2394C>T (p.Gly798=) single nucleotide variant not provided [RCV000913859] Chr2:219565255 [GRCh38]
Chr2:220429977 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) single nucleotide variant Three M syndrome 2 [RCV001143127]|not provided [RCV000912737] Chr2:219567388 [GRCh38]
Chr2:220432110 [GRCh37]
Chr2:2q35
likely benign|uncertain significance
NM_015311.3(OBSL1):c.4610-10C>T single nucleotide variant not provided [RCV000935480] Chr2:219554750 [GRCh38]
Chr2:220419472 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) single nucleotide variant Three M syndrome 2 [RCV001143019]|not provided [RCV000890762] Chr2:219563457 [GRCh38]
Chr2:220428179 [GRCh37]
Chr2:2q35
benign
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) single nucleotide variant Three M syndrome 2 [RCV001143020]|not provided [RCV000890763] Chr2:219563458 [GRCh38]
Chr2:220428180 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.-35C>A single nucleotide variant Three M syndrome 2 [RCV001141505] Chr2:219571267 [GRCh38]
Chr2:220435989 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-51A>T single nucleotide variant Three M syndrome 2 [RCV001141506] Chr2:219571283 [GRCh38]
Chr2:220436005 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) single nucleotide variant Three M syndrome 2 [RCV001143130] Chr2:219567809 [GRCh38]
Chr2:220432531 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4152C>T (p.Ser1384=) single nucleotide variant Three M syndrome 2 [RCV001142812] Chr2:219556638 [GRCh38]
Chr2:220421360 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) single nucleotide variant Three M syndrome 2 [RCV001143126] Chr2:219567377 [GRCh38]
Chr2:220432099 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5243C>T (p.Thr1748Met) single nucleotide variant Three M syndrome 2 [RCV001142706] Chr2:219552601 [GRCh38]
Chr2:220417323 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) single nucleotide variant Three M syndrome 2 [RCV001143017] Chr2:219563397 [GRCh38]
Chr2:220428119 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2498G>A (p.Arg833Gln) single nucleotide variant Three M syndrome 2 [RCV001143021] Chr2:219563537 [GRCh38]
Chr2:220428259 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1298G>A (p.Arg433His) single nucleotide variant Three M syndrome 2 [RCV001136565] Chr2:219567954 [GRCh38]
Chr2:220432676 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.46C>A (p.Arg16Ser) single nucleotide variant Three M syndrome 2 [RCV001138908] Chr2:219571187 [GRCh38]
Chr2:220435909 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) duplication not provided [RCV001061983] Chr2:219556093..219556094 [GRCh38]
Chr2:220420815..220420816 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2392G>A (p.Gly798Ser) single nucleotide variant Three M syndrome 2 [RCV001138279] Chr2:219565257 [GRCh38]
Chr2:220429979 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2706C>T (p.Pro902=) single nucleotide variant Three M syndrome 2 [RCV001141179] Chr2:219562649 [GRCh38]
Chr2:220427371 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1911C>G (p.Leu637=) single nucleotide variant Three M syndrome 2 [RCV001141277] Chr2:219567053 [GRCh38]
Chr2:220431775 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1077G>A (p.Val359=) single nucleotide variant Three M syndrome 2 [RCV001141388] Chr2:219568260 [GRCh38]
Chr2:220432982 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5593C>T (p.Leu1865=) single nucleotide variant Three M syndrome 2 [RCV001140857] Chr2:219551619 [GRCh38]
Chr2:220416341 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) single nucleotide variant Three M syndrome 2 [RCV001141176] Chr2:219562497 [GRCh38]
Chr2:220427219 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1136G>A (p.Arg379Gln) single nucleotide variant Three M syndrome 2 [RCV001141387] Chr2:219568201 [GRCh38]
Chr2:220432923 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5487G>A (p.Glu1829=) single nucleotide variant Three M syndrome 2 [RCV001140858] Chr2:219551725 [GRCh38]
Chr2:220416447 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-59C>T single nucleotide variant Three M syndrome 2 [RCV001141507] Chr2:219571291 [GRCh38]
Chr2:220436013 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) single nucleotide variant Three M syndrome 2 [RCV001141178] Chr2:219562624 [GRCh38]
Chr2:220427346 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1195A>G (p.Ile399Val) single nucleotide variant Three M syndrome 2 [RCV001138806] Chr2:219568142 [GRCh38]
Chr2:220432864 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.848del (p.Gly283fs) deletion Three M syndrome 2 [RCV001089805] Chr2:219570385 [GRCh38]
Chr2:220435107 [GRCh37]
Chr2:2q35
pathogenic
NM_015311.3(OBSL1):c.4610-6G>A single nucleotide variant Three M syndrome 2 [RCV001138382] Chr2:219554746 [GRCh38]
Chr2:220419468 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4484G>A (p.Arg1495His) single nucleotide variant Three M syndrome 2 [RCV001138384] Chr2:219556145 [GRCh38]
Chr2:220420867 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3980G>A (p.Arg1327Gln) single nucleotide variant Three M syndrome 2 [RCV001138493] Chr2:219557429 [GRCh38]
Chr2:220422151 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3078G>C (p.Gly1026=) single nucleotide variant Three M syndrome 2 [RCV001138604] Chr2:219559373 [GRCh38]
Chr2:220424095 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) single nucleotide variant Three M syndrome 2 [RCV001138699] Chr2:219566860 [GRCh38]
Chr2:220431582 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1268A>G (p.Asn423Ser) single nucleotide variant Three M syndrome 2 [RCV001136567] Chr2:219568069 [GRCh38]
Chr2:220432791 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-12T>C single nucleotide variant Three M syndrome 2 [RCV001141503] Chr2:219571244 [GRCh38]
Chr2:220435966 [GRCh37]
Chr2:2q35
likely benign
NM_015311.3(OBSL1):c.-21T>C single nucleotide variant Three M syndrome 2 [RCV001141504] Chr2:219571253 [GRCh38]
Chr2:220435975 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.5515G>T (p.Val1839Leu) single nucleotide variant not provided [RCV001043079] Chr2:219551697 [GRCh38]
Chr2:220416419 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) single nucleotide variant Three M syndrome 2 [RCV001137965] Chr2:219554500 [GRCh38]
Chr2:220419222 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3275A>G (p.His1092Arg) single nucleotide variant Three M syndrome 2 [RCV001138176] Chr2:219558411 [GRCh38]
Chr2:220423133 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2407+11A>G single nucleotide variant Three M syndrome 2 [RCV001138278] Chr2:219565231 [GRCh38]
Chr2:220429953 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.907G>A (p.Val303Met) single nucleotide variant Three M syndrome 2 [RCV001143238] Chr2:219570326 [GRCh38]
Chr2:220435048 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1850G>T (p.Arg617Leu) single nucleotide variant Three M syndrome 2 [RCV001141278] Chr2:219567114 [GRCh38]
Chr2:220431836 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.-73C>T single nucleotide variant Three M syndrome 2 [RCV001141508] Chr2:219571305 [GRCh38]
Chr2:220436027 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1296G>A (p.Lys432=) single nucleotide variant Three M syndrome 2 [RCV001136566] Chr2:219567956 [GRCh38]
Chr2:220432678 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4202C>T (p.Pro1401Leu) single nucleotide variant Three M syndrome 2 [RCV001142809] Chr2:219556588 [GRCh38]
Chr2:220421310 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4183A>G (p.Asn1395Asp) single nucleotide variant Three M syndrome 2 [RCV001142811] Chr2:219556607 [GRCh38]
Chr2:220421329 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3591G>C (p.Leu1197=) single nucleotide variant Three M syndrome 2 [RCV001142910] Chr2:219558022 [GRCh38]
Chr2:220422744 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) single nucleotide variant Three M syndrome 2 [RCV001140963] Chr2:219556200 [GRCh38]
Chr2:220420922 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) single nucleotide variant Three M syndrome 2 [RCV001140964] Chr2:219556210 [GRCh38]
Chr2:220420932 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) single nucleotide variant Three M syndrome 2 [RCV001141053] Chr2:219557556 [GRCh38]
Chr2:220422278 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) single nucleotide variant Three M syndrome 2 [RCV001141177] Chr2:219562564 [GRCh38]
Chr2:220427286 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.993C>T (p.Ala331=) single nucleotide variant Three M syndrome 2 [RCV001141389] Chr2:219570240 [GRCh38]
Chr2:220434962 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2349T>A (p.Ser783Arg) single nucleotide variant Three M syndrome 2 [RCV001138280] Chr2:219565300 [GRCh38]
Chr2:220430022 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.4194C>A (p.Val1398=) single nucleotide variant Three M syndrome 2 [RCV001142810] Chr2:219556596 [GRCh38]
Chr2:220421318 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) single nucleotide variant Three M syndrome 2 [RCV001143128] Chr2:219567447 [GRCh38]
Chr2:220432169 [GRCh37]
Chr2:2q35
uncertain significance
NM_015311.3(OBSL1):c.2635del (p.Cys879fs) deletion Three M syndrome 2 [RCV001198095] Chr2:219563400 [GRCh38]
Chr2:220428122 [GRCh37]
Chr2:2q35
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29092 AgrOrtholog
COSMIC OBSL1 COSMIC
Ensembl Genes ENSG00000124006 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000289656 UniProtKB/TrEMBL
  ENSP00000362980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000362983 UniProtKB/TrEMBL
  ENSP00000385636 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403665 UniProtKB/TrEMBL
  ENSP00000474519 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000475126 UniProtKB/TrEMBL
Ensembl Transcript ENST00000289656 UniProtKB/TrEMBL
  ENST00000373873 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000373876 UniProtKB/TrEMBL
  ENST00000404537 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456147 UniProtKB/TrEMBL
  ENST00000603926 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000604031 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124006 GTEx
HGNC ID HGNC:29092 ENTREZGENE
Human Proteome Map OBSL1 Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23363 UniProtKB/Swiss-Prot
NCBI Gene 23363 ENTREZGENE
OMIM 610991 OMIM
  612921 OMIM
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671235 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.526594 ENTREZGENE
UniProt A6NN50_HUMAN UniProtKB/TrEMBL
  A8MSZ8_HUMAN UniProtKB/TrEMBL
  H0Y684_HUMAN UniProtKB/TrEMBL
  O75147 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6P710_HUMAN UniProtKB/TrEMBL
  Q9H8B3 ENTREZGENE, UniProtKB/TrEMBL
  S4R463_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4KVA4 UniProtKB/Swiss-Prot
  A4KVA5 UniProtKB/Swiss-Prot
  Q96IW3 UniProtKB/Swiss-Prot
  S4R3M6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-20 OBSL1  obscurin like cytoskeletal adaptor 1  OBSL1  obscurin like 1  Symbol and/or name change 5135510 APPROVED
2016-07-19 OBSL1  obscurin like 1    obscurin-like 1  Symbol and/or name change 5135510 APPROVED