ARCN1 (archain 1) - Rat Genome Database

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Gene: ARCN1 (archain 1) Homo sapiens
Analyze
Symbol: ARCN1
Name: archain 1
RGD ID: 1344658
HGNC Page HGNC:649
Description: Enables RNA binding activity. Predicted to be involved in Golgi localization; endoplasmic reticulum to Golgi vesicle-mediated transport; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Predicted to act upstream of or within several processes, including Golgi vesicle transport; adult locomotory behavior; and cerebellar Purkinje cell layer maturation. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: archain vesicle transport protein 1; coatomer delta subunit; coatomer protein complex, subunit delta; coatomer protein delta-COP; coatomer subunit delta; COPD; COPI coat complex subunit delta; delta-coat protein; delta-COP; SRMMD; SSMG
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,572,409 - 118,603,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,572,390 - 118,603,033 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,443,124 - 118,473,748 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,948,321 - 117,978,855 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,948,320 - 117,978,854NCBI
Celera11115,603,886 - 115,634,520 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,380,702 - 114,411,245 (+)NCBIHuRef
CHM1_111118,329,760 - 118,360,405 (+)NCBICHM1_1
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1898986   PMID:7782067   PMID:8355790   PMID:8533093   PMID:8599108   PMID:8854871   PMID:8858162   PMID:8940050   PMID:9482852   PMID:9751720   PMID:10921873   PMID:11031247  
PMID:12388752   PMID:12477932   PMID:14729954   PMID:15489334   PMID:16196087   PMID:16344560   PMID:16956762   PMID:19615732   PMID:19946888   PMID:20360068   PMID:20467437   PMID:21081503  
PMID:21139048   PMID:21832049   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:22053931   PMID:22505724   PMID:22623428   PMID:22658674   PMID:22750876   PMID:22863883  
PMID:22939629   PMID:23000965   PMID:23272104   PMID:23300798   PMID:24457600   PMID:24711643   PMID:24816145   PMID:25015289   PMID:25036637   PMID:25147182   PMID:25921289   PMID:25963833  
PMID:26344197   PMID:26496610   PMID:26498766   PMID:26618866   PMID:26638075   PMID:26673895   PMID:26752685   PMID:26949251   PMID:26972000   PMID:27476655   PMID:27578003   PMID:27621311  
PMID:27684187   PMID:27716508   PMID:28302793   PMID:28378594   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28581483   PMID:28685749   PMID:28718761   PMID:29128334   PMID:29467282  
PMID:29507755   PMID:29511261   PMID:29568061   PMID:29676528   PMID:29721183   PMID:29845934   PMID:29955894   PMID:30352685   PMID:30425250   PMID:30455355   PMID:30463901   PMID:30572598  
PMID:30575818   PMID:30631079   PMID:30711629   PMID:30833792   PMID:30884312   PMID:30948266   PMID:31059266   PMID:31067453   PMID:31073040   PMID:31075182   PMID:31091453   PMID:31177093  
PMID:31300519   PMID:31324722   PMID:31536960   PMID:31594818   PMID:31732153   PMID:31980649   PMID:32129710   PMID:32149426   PMID:32203420   PMID:32296183   PMID:32322062   PMID:32687490  
PMID:32707033   PMID:32807901   PMID:32814053   PMID:33022573   PMID:33067418   PMID:33144569   PMID:33154040   PMID:33239621   PMID:33306668   PMID:33658012   PMID:33729478   PMID:33731348  
PMID:33742100   PMID:33766124   PMID:33916271   PMID:33961781   PMID:34039624   PMID:34079125   PMID:34349018   PMID:34373451   PMID:34473204   PMID:34504087   PMID:34591877   PMID:34597346  
PMID:34645483   PMID:34687317   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35300924   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35516420   PMID:35563538  
PMID:35831314   PMID:35844135   PMID:35914814   PMID:35915203   PMID:35944360   PMID:35973989   PMID:36057605   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36244648   PMID:36517590  
PMID:36526897   PMID:36538041   PMID:36572190   PMID:36793866   PMID:37071682   PMID:37167062   PMID:37223481   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37774976   PMID:37827155  
PMID:38113892   PMID:38280479   PMID:38334954   PMID:38569033   PMID:39147351   PMID:39231216  


Genomics

Comparative Map Data
ARCN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,572,409 - 118,603,033 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,572,390 - 118,603,033 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,443,124 - 118,473,748 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,948,321 - 117,978,855 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,948,320 - 117,978,854NCBI
Celera11115,603,886 - 115,634,520 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,380,702 - 114,411,245 (+)NCBIHuRef
CHM1_111118,329,760 - 118,360,405 (+)NCBICHM1_1
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBIT2T-CHM13v2.0
Arcn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,653,440 - 44,679,105 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,652,861 - 44,679,142 (-)EnsemblGRCm39 Ensembl
GRCm38944,742,143 - 44,767,808 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,741,564 - 44,767,845 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,550,226 - 44,575,891 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,492,563 - 44,518,792 (-)NCBIMGSCv36mm8
Celera942,006,873 - 42,032,888 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Arcn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,954,401 - 53,979,005 (-)NCBIGRCr8
mRatBN7.2845,057,617 - 45,082,224 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,057,619 - 45,082,247 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,552,579 - 50,577,205 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0848,831,299 - 48,855,922 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,701,905 - 46,726,513 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,051,257 - 49,075,861 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,051,246 - 49,075,892 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,670,182 - 47,694,935 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,699,348 - 47,725,337 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,708,114 - 47,734,103 (-)NCBI
Celera844,642,433 - 44,667,152 (-)NCBICelera
Cytogenetic Map8q22NCBI
Arcn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,718,132 - 19,753,361 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,718,534 - 19,750,340 (+)NCBIChiLan1.0ChiLan1.0
ARCN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,277,722 - 119,308,264 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111120,382,734 - 120,413,256 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011113,411,166 - 113,441,792 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,341,427 - 117,371,589 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,341,427 - 117,371,589 (+)Ensemblpanpan1.1panPan2
ARCN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,141,861 - 15,171,642 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,143,499 - 15,171,586 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,193,398 - 15,222,886 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,084,158 - 15,113,634 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,084,172 - 15,113,604 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,222,595 - 15,252,358 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,126,100 - 15,155,561 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,166,586 - 15,196,066 (-)NCBIUU_Cfam_GSD_1.0
Arcn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,684,134 - 100,713,480 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365423,617,051 - 3,633,132 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365423,605,553 - 3,634,889 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARCN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,863,559 - 45,897,613 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,863,772 - 45,897,525 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,815,863 - 50,842,076 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARCN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,964,123 - 109,997,888 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,964,120 - 109,998,290 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,037,795 - 16,073,884 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Arcn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,973,551 - 14,013,693 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,973,631 - 14,011,921 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARCN1
203 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
NM_001655.5(ARCN1):c.633del (p.Val212fs) deletion Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV000257942] Chr11:118583991 [GRCh38]
Chr11:118454706 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.157_158del (p.Ser53fs) microsatellite Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV000257962] Chr11:118581395..118581396 [GRCh38]
Chr11:118452110..118452111 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.260C>A (p.Ser87Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV000257989] Chr11:118581502 [GRCh38]
Chr11:118452217 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001655.5(ARCN1):c.853A>G (p.Thr285Ala) single nucleotide variant not provided [RCV000678359] Chr11:118590375 [GRCh38]
Chr11:118461090 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001655.5(ARCN1):c.279T>C (p.Tyr93=) single nucleotide variant not provided [RCV000915956] Chr11:118583190 [GRCh38]
Chr11:118453905 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.935G>A (p.Arg312Gln) single nucleotide variant ARCN1-related disorder [RCV004753084]|not provided [RCV000891654] Chr11:118590457 [GRCh38]
Chr11:118461172 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.1185T>C (p.Tyr395=) single nucleotide variant not provided [RCV000975377] Chr11:118593642 [GRCh38]
Chr11:118464357 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.984+3G>A single nucleotide variant not provided [RCV000901055] Chr11:118590509 [GRCh38]
Chr11:118461224 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.786C>G (p.Thr262=) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002501398]|not provided [RCV000882761] Chr11:118584612 [GRCh38]
Chr11:118455327 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001655.5(ARCN1):c.867C>T (p.Asp289=) single nucleotide variant not provided [RCV000906860] Chr11:118590389 [GRCh38]
Chr11:118461104 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.268-6G>A single nucleotide variant not provided [RCV000886814] Chr11:118583173 [GRCh38]
Chr11:118453888 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.769C>A (p.Arg257Ser) single nucleotide variant ARCN1-related disorder [RCV003958048]|not provided [RCV000896142] Chr11:118584595 [GRCh38]
Chr11:118455310 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_001655.5(ARCN1):c.687A>T (p.Gly229=) single nucleotide variant not provided [RCV000916974] Chr11:118584513 [GRCh38]
Chr11:118455228 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.16G>T (p.Ala6Ser) single nucleotide variant ARCN1-related disorder [RCV004753083]|not provided [RCV000891653] Chr11:118581258 [GRCh38]
Chr11:118451973 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.654-15A>G single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV000993710] Chr11:118584465 [GRCh38]
Chr11:118455180 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001655.5(ARCN1):c.1276G>A (p.Asp426Asn) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV000791043] Chr11:118597741 [GRCh38]
Chr11:118468456 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1467A>G (p.Val489=) single nucleotide variant ARCN1-related disorder [RCV004753085]|not provided [RCV000891655] Chr11:118600645 [GRCh38]
Chr11:118471360 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.3+8C>T single nucleotide variant ARCN1-related disorder [RCV004753082]|not provided [RCV000891652] Chr11:118572558 [GRCh38]
Chr11:118443273 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1242-132_1242-131insAGAG microsatellite not provided [RCV001692776] Chr11:118597573..118597574 [GRCh38]
Chr11:118468288..118468289 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.985-203T>A single nucleotide variant not provided [RCV001709806] Chr11:118592506 [GRCh38]
Chr11:118463221 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.1283A>T (p.Glu428Val) single nucleotide variant Inborn genetic diseases [RCV003242216] Chr11:118597748 [GRCh38]
Chr11:118468463 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1047A>T (p.Pro349=) single nucleotide variant not provided [RCV000980909] Chr11:118592771 [GRCh38]
Chr11:118463486 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.438C>T (p.Ala146=) single nucleotide variant not provided [RCV000928823] Chr11:118583349 [GRCh38]
Chr11:118454064 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.819-99G>A single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002260429] Chr11:118590242 [GRCh38]
Chr11:118460957 [GRCh37]
Chr11:11q23.3		 benign
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.118572359dup duplication not provided [RCV001665648] Chr11:118572348..118572349 [GRCh38]
Chr11:118443063..118443064 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.447+104A>G single nucleotide variant not provided [RCV001614575] Chr11:118583462 [GRCh38]
Chr11:118454177 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.118572359del deletion not provided [RCV001682079] Chr11:118572349 [GRCh38]
Chr11:118443064 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.268-213A>G single nucleotide variant not provided [RCV001611303] Chr11:118582966 [GRCh38]
Chr11:118453681 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.267+110G>C single nucleotide variant not provided [RCV001612483] Chr11:118581619 [GRCh38]
Chr11:118452334 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.4-60T>C single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002260292]|not provided [RCV001667586] Chr11:118581186 [GRCh38]
Chr11:118451901 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.10:g.118572348G>C single nucleotide variant not provided [RCV001609354] Chr11:118572348 [GRCh38]
Chr11:118443063 [GRCh37]
Chr11:11q23.3		 benign
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_001655.5(ARCN1):c.752C>T (p.Ser251Phe) single nucleotide variant Inborn genetic diseases [RCV002570599]|Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001255806]|not provided [RCV002570598] Chr11:118584578 [GRCh38]
Chr11:118455293 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001655.5(ARCN1):c.1387A>G (p.Asn463Asp) single nucleotide variant Microcephaly [RCV001252907] Chr11:118597852 [GRCh38]
Chr11:118468567 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1256C>T (p.Ala419Val) single nucleotide variant Inborn genetic diseases [RCV002568752]|Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001255814]|not provided [RCV002570600] Chr11:118597721 [GRCh38]
Chr11:118468436 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.934C>T (p.Arg312Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001335853] Chr11:118590456 [GRCh38]
Chr11:118461171 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1319G>A (p.Trp440Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001335852] Chr11:118597784 [GRCh38]
Chr11:118468499 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001655.5(ARCN1):c.1292A>G (p.His431Arg) single nucleotide variant not provided [RCV001358108] Chr11:118597757 [GRCh38]
Chr11:118468472 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1286del (p.Tyr429fs) deletion Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001353369] Chr11:118597751 [GRCh38]
Chr11:118468466 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1530T>C (p.Ile510=) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002260160]|not provided [RCV001516165] Chr11:118600708 [GRCh38]
Chr11:118600708..118600709 [GRCh38]
Chr11:118471423 [GRCh37]
Chr11:118471423..118471424 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_001655.5(ARCN1):c.929A>G (p.Tyr310Cys) single nucleotide variant See cases [RCV002252635] Chr11:118590451 [GRCh38]
Chr11:118461166 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.431dup (p.Arg145fs) duplication Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002272586] Chr11:118583340..118583341 [GRCh38]
Chr11:118454055..118454056 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1303C>T (p.Arg435Ter) single nucleotide variant ARCN1-related disorder [RCV003403745]|not provided [RCV002245136] Chr11:118597768 [GRCh38]
Chr11:118468483 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_001655.5(ARCN1):c.770G>A (p.Arg257His) single nucleotide variant not provided [RCV003104530] Chr11:118584596 [GRCh38]
Chr11:118455311 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_001655.5(ARCN1):c.155A>G (p.Glu52Gly) single nucleotide variant Inborn genetic diseases [RCV003295219]|Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV004723257] Chr11:118581397 [GRCh38]
Chr11:118452112 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001655.5(ARCN1):c.231AGA[1] (p.Glu78del) microsatellite Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV001775242] Chr11:118581473..118581475 [GRCh38]
Chr11:118452188..118452190 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001655.5(ARCN1):c.1255G>A (p.Ala419Thr) single nucleotide variant not provided [RCV001763885] Chr11:118597720 [GRCh38]
Chr11:118468435 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1432dup (p.Tyr478fs) duplication not provided [RCV001760972] Chr11:118597895..118597896 [GRCh38]
Chr11:118468610..118468611 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.644C>T (p.Ala215Val) single nucleotide variant not provided [RCV001891121] Chr11:118584005 [GRCh38]
Chr11:118454720 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1030A>G (p.Ile344Val) single nucleotide variant Inborn genetic diseases [RCV004044465]|not provided [RCV001968492] Chr11:118592754 [GRCh38]
Chr11:118463469 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001655.5(ARCN1):c.613A>C (p.Ile205Leu) single nucleotide variant not provided [RCV001891823] Chr11:118583974 [GRCh38]
Chr11:118454689 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_001655.5(ARCN1):c.597G>T (p.Met199Ile) single nucleotide variant not provided [RCV002004681] Chr11:118583958 [GRCh38]
Chr11:118454673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1289G>A (p.Arg430Gln) single nucleotide variant Inborn genetic diseases [RCV004042530]|not provided [RCV001913311] Chr11:118597754 [GRCh38]
Chr11:118468469 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001655.5(ARCN1):c.761T>C (p.Met254Thr) single nucleotide variant Inborn genetic diseases [RCV004656679]|not provided [RCV002040132] Chr11:118584587 [GRCh38]
Chr11:118455302 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001655.5(ARCN1):c.304A>G (p.Ile102Val) single nucleotide variant not provided [RCV001954702] Chr11:118583215 [GRCh38]
Chr11:118453930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1301G>A (p.Arg434Gln) single nucleotide variant not provided [RCV002048804]|not specified [RCV003403660] Chr11:118597766 [GRCh38]
Chr11:118468481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.863G>A (p.Arg288Gln) single nucleotide variant not provided [RCV001918562] Chr11:118590385 [GRCh38]
Chr11:118461100 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.553G>T (p.Gly185Ter) single nucleotide variant not provided [RCV001942153] Chr11:118583914 [GRCh38]
Chr11:118454629 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1059T>G (p.Phe353Leu) single nucleotide variant not provided [RCV001989975] Chr11:118592783 [GRCh38]
Chr11:118463498 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.472G>C (p.Glu158Gln) single nucleotide variant not provided [RCV001897291] Chr11:118583833 [GRCh38]
Chr11:118454548 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.439G>A (p.Val147Ile) single nucleotide variant not provided [RCV001976336] Chr11:118583350 [GRCh38]
Chr11:118454065 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.595A>G (p.Met199Val) single nucleotide variant not provided [RCV002018895] Chr11:118583956 [GRCh38]
Chr11:118454671 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1333A>G (p.Ile445Val) single nucleotide variant not provided [RCV001975535] Chr11:118597798 [GRCh38]
Chr11:118468513 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1241C>T (p.Pro414Leu) single nucleotide variant not provided [RCV002031118] Chr11:118593698 [GRCh38]
Chr11:118464413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.805A>G (p.Ile269Val) single nucleotide variant ARCN1-related disorder [RCV003892905]|not provided [RCV001899688] Chr11:118584631 [GRCh38]
Chr11:118455346 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.518C>G (p.Ala173Gly) single nucleotide variant not provided [RCV001932981] Chr11:118583879 [GRCh38]
Chr11:118454594 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1483G>A (p.Val495Ile) single nucleotide variant Inborn genetic diseases [RCV002592585]|not provided [RCV001978156] Chr11:118600661 [GRCh38]
Chr11:118471376 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NC_000011.9:g.(?_118390313)_(118550336_?)del deletion not provided [RCV001940057] Chr11:118390313..118550336 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication Atrial fibrillation, familial, 14 [RCV004580292] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.458G>A (p.Arg153His) single nucleotide variant not provided [RCV002026021] Chr11:118583819 [GRCh38]
Chr11:118454534 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.605A>C (p.Glu202Ala) single nucleotide variant not provided [RCV002010614] Chr11:118583966 [GRCh38]
Chr11:118454681 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.553G>A (p.Gly185Arg) single nucleotide variant not provided [RCV001919626] Chr11:118583914 [GRCh38]
Chr11:118454629 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.819-4A>G single nucleotide variant not provided [RCV002185911] Chr11:118590337 [GRCh38]
Chr11:118461052 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1241+14_1241+21del deletion not provided [RCV002127034] Chr11:118593707..118593714 [GRCh38]
Chr11:118464422..118464429 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1446+19G>A single nucleotide variant not provided [RCV002168299] Chr11:118597930 [GRCh38]
Chr11:118468645 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.114G>A (p.Lys38=) single nucleotide variant not provided [RCV002107738] Chr11:118581356 [GRCh38]
Chr11:118452071 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.552C>T (p.Gly184=) single nucleotide variant not provided [RCV002111524] Chr11:118583913 [GRCh38]
Chr11:118454628 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.351C>T (p.Val117=) single nucleotide variant not provided [RCV002095856] Chr11:118583262 [GRCh38]
Chr11:118453977 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1275C>T (p.Ile425=) single nucleotide variant not provided [RCV002113968] Chr11:118597740 [GRCh38]
Chr11:118468455 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV002087955] Chr11:118581263 [GRCh38]
Chr11:118451978 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.247C>T (p.Leu83=) single nucleotide variant not provided [RCV002136045] Chr11:118581489 [GRCh38]
Chr11:118452204 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1132+19T>C single nucleotide variant not provided [RCV002204128] Chr11:118592875 [GRCh38]
Chr11:118463590 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1446+13A>G single nucleotide variant not provided [RCV002184442] Chr11:118597924 [GRCh38]
Chr11:118468639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1257G>A (p.Ala419=) single nucleotide variant not provided [RCV002154068] Chr11:118597722 [GRCh38]
Chr11:118468437 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.1080G>A (p.Gly360=) single nucleotide variant not provided [RCV002156238] Chr11:118592804 [GRCh38]
Chr11:118463519 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.522_525del (p.Glu174fs) microsatellite Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002251233] Chr11:118583880..118583883 [GRCh38]
Chr11:118454595..118454598 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001655.5(ARCN1):c.267+10C>T single nucleotide variant not provided [RCV002164490] Chr11:118581519 [GRCh38]
Chr11:118452234 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1086A>G (p.Leu362=) single nucleotide variant not provided [RCV002220200] Chr11:118592810 [GRCh38]
Chr11:118463525 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.4-8C>T single nucleotide variant not provided [RCV002220273] Chr11:118581238 [GRCh38]
Chr11:118451953 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.953A>G (p.Glu318Gly) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002243587] Chr11:118590475 [GRCh38]
Chr11:118461190 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.380dup (p.Leu127fs) duplication Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002281588] Chr11:118583289..118583290 [GRCh38]
Chr11:118454004..118454005 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.878A>G (p.Gln293Arg) single nucleotide variant not provided [RCV002292037] Chr11:118590400 [GRCh38]
Chr11:118461115 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001655.5(ARCN1):c.508C>T (p.Arg170Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002272712] Chr11:118583869 [GRCh38]
Chr11:118454584 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.941del (p.Arg314fs) deletion not provided [RCV002292845] Chr11:118590463 [GRCh38]
Chr11:118461178 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1508T>A (p.Phe503Tyr) single nucleotide variant not provided [RCV003236205] Chr11:118600686 [GRCh38]
Chr11:118471401 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1001dup (p.Asp334fs) duplication Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002281589] Chr11:118592724..118592725 [GRCh38]
Chr11:118463439..118463440 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1477A>T (p.Ser493Cys) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV003236241] Chr11:118600655 [GRCh38]
Chr11:118471370 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.980T>C (p.Leu327Pro) single nucleotide variant not provided [RCV002297712] Chr11:118590502 [GRCh38]
Chr11:118461217 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.3+9C>A single nucleotide variant not provided [RCV002726745] Chr11:118572559 [GRCh38]
Chr11:118443274 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.440T>C (p.Val147Ala) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV002471529] Chr11:118583351 [GRCh38]
Chr11:118454066 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.862C>T (p.Arg288Ter) single nucleotide variant ARCN1-related disorder [RCV004753661]|See cases [RCV003128538] Chr11:118590384 [GRCh38]
Chr11:118461099 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1266C>T (p.Ile422=) single nucleotide variant not provided [RCV002967532] Chr11:118597731 [GRCh38]
Chr11:118468446 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.479G>A (p.Arg160His) single nucleotide variant not provided [RCV002771345]|not specified [RCV003388127] Chr11:118583840 [GRCh38]
Chr11:118454555 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.823C>T (p.His275Tyr) single nucleotide variant not provided [RCV002614805] Chr11:118590345 [GRCh38]
Chr11:118461060 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.284G>A (p.Arg95Gln) single nucleotide variant not provided [RCV002947351] Chr11:118583195 [GRCh38]
Chr11:118453910 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.654-7C>G single nucleotide variant not provided [RCV002690436] Chr11:118584473 [GRCh38]
Chr11:118455188 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.140C>T (p.Thr47Met) single nucleotide variant not provided [RCV002843535] Chr11:118581382 [GRCh38]
Chr11:118452097 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.267+6A>G single nucleotide variant not provided [RCV002614466] Chr11:118581515 [GRCh38]
Chr11:118452230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.541C>A (p.Pro181Thr) single nucleotide variant Inborn genetic diseases [RCV002902349] Chr11:118583902 [GRCh38]
Chr11:118454617 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.414T>G (p.Ser138=) single nucleotide variant not provided [RCV002838376] Chr11:118583325 [GRCh38]
Chr11:118454040 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.609C>T (p.Thr203=) single nucleotide variant not provided [RCV002904234] Chr11:118583970 [GRCh38]
Chr11:118454685 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1004A>G (p.Lys335Arg) single nucleotide variant Inborn genetic diseases [RCV002994045]|Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV003138428]|not provided [RCV002994044] Chr11:118592728 [GRCh38]
Chr11:118463443 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.365G>A (p.Arg122Gln) single nucleotide variant Inborn genetic diseases [RCV003033987]|not provided [RCV003033986] Chr11:118583276 [GRCh38]
Chr11:118453991 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.848C>T (p.Thr283Ile) single nucleotide variant not provided [RCV002996925] Chr11:118590370 [GRCh38]
Chr11:118461085 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.478C>T (p.Arg160Cys) single nucleotide variant not provided [RCV002620561] Chr11:118583839 [GRCh38]
Chr11:118454554 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.654-8C>T single nucleotide variant not provided [RCV002663145] Chr11:118584472 [GRCh38]
Chr11:118455187 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1501A>T (p.Thr501Ser) single nucleotide variant not provided [RCV003020072] Chr11:118600679 [GRCh38]
Chr11:118471394 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1098A>G (p.Leu366=) single nucleotide variant not provided [RCV002913067] Chr11:118592822 [GRCh38]
Chr11:118463537 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.46A>G (p.Ile16Val) single nucleotide variant not provided [RCV002781059] Chr11:118581288 [GRCh38]
Chr11:118452003 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1042A>C (p.Asn348His) single nucleotide variant Inborn genetic diseases [RCV002950693] Chr11:118592766 [GRCh38]
Chr11:118463481 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.955A>C (p.Asn319His) single nucleotide variant Inborn genetic diseases [RCV002707993] Chr11:118590477 [GRCh38]
Chr11:118461192 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.168T>C (p.Tyr56=) single nucleotide variant not provided [RCV002658672] Chr11:118581410 [GRCh38]
Chr11:118452125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV002736787] Chr11:118592798 [GRCh38]
Chr11:118463513 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1147T>C (p.Ser383Pro) single nucleotide variant Inborn genetic diseases [RCV002758916] Chr11:118593604 [GRCh38]
Chr11:118464319 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.163A>C (p.Arg55=) single nucleotide variant not provided [RCV002781466] Chr11:118581405 [GRCh38]
Chr11:118452120 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.4-8C>G single nucleotide variant not provided [RCV002622160] Chr11:118581238 [GRCh38]
Chr11:118451953 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.136C>A (p.His46Asn) single nucleotide variant Inborn genetic diseases [RCV002887370] Chr11:118581378 [GRCh38]
Chr11:118452093 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.299A>G (p.Asn100Ser) single nucleotide variant not provided [RCV002824648] Chr11:118583210 [GRCh38]
Chr11:118453925 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.312G>A (p.Glu104=) single nucleotide variant not provided [RCV002781188] Chr11:118583223 [GRCh38]
Chr11:118453938 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1495A>G (p.Thr499Ala) single nucleotide variant Inborn genetic diseases [RCV002782506] Chr11:118600673 [GRCh38]
Chr11:118471388 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.800C>T (p.Pro267Leu) single nucleotide variant not provided [RCV002979571] Chr11:118584626 [GRCh38]
Chr11:118455341 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1472G>C (p.Gly491Ala) single nucleotide variant Inborn genetic diseases [RCV003170803]|not provided [RCV002998648] Chr11:118600650 [GRCh38]
Chr11:118471365 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1290A>T (p.Arg430=) single nucleotide variant not provided [RCV003020225] Chr11:118597755 [GRCh38]
Chr11:118468470 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.4-11G>A single nucleotide variant not provided [RCV002870743] Chr11:118581235 [GRCh38]
Chr11:118451950 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1242-19A>G single nucleotide variant not provided [RCV002569619] Chr11:118597688 [GRCh38]
Chr11:118468403 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1268G>A (p.Gly423Asp) single nucleotide variant Inborn genetic diseases [RCV002713318] Chr11:118597733 [GRCh38]
Chr11:118468448 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.819-15A>G single nucleotide variant not provided [RCV002627269] Chr11:118590326 [GRCh38]
Chr11:118461041 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1275C>G (p.Ile425Met) single nucleotide variant not provided [RCV003085106] Chr11:118597740 [GRCh38]
Chr11:118468455 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.750G>A (p.Met250Ile) single nucleotide variant Inborn genetic diseases [RCV002698594] Chr11:118584576 [GRCh38]
Chr11:118455291 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.76C>T (p.Arg26Ter) single nucleotide variant Inborn genetic diseases [RCV002697586] Chr11:118581318 [GRCh38]
Chr11:118452033 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1099C>T (p.Gln367Ter) single nucleotide variant not provided [RCV003042998] Chr11:118592823 [GRCh38]
Chr11:118463538 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.3+16G>A single nucleotide variant not provided [RCV003042434] Chr11:118572566 [GRCh38]
Chr11:118443281 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.181A>G (p.Met61Val) single nucleotide variant not provided [RCV002650616] Chr11:118581423 [GRCh38]
Chr11:118452138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.441C>T (p.Val147=) single nucleotide variant not provided [RCV002806992] Chr11:118583352 [GRCh38]
Chr11:118454067 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.997G>A (p.Val333Met) single nucleotide variant not provided [RCV002938920] Chr11:118592721 [GRCh38]
Chr11:118463436 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.653+16C>G single nucleotide variant not provided [RCV002597744] Chr11:118584030 [GRCh38]
Chr11:118454745 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.26G>A (p.Cys9Tyr) single nucleotide variant not provided [RCV003047060] Chr11:118581268 [GRCh38]
Chr11:118451983 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1388A>G (p.Asn463Ser) single nucleotide variant Inborn genetic diseases [RCV002718314] Chr11:118597853 [GRCh38]
Chr11:118468568 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.759T>G (p.Ser253Arg) single nucleotide variant not provided [RCV002807120] Chr11:118584585 [GRCh38]
Chr11:118455300 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.666C>T (p.Pro222=) single nucleotide variant not provided [RCV002811746] Chr11:118584492 [GRCh38]
Chr11:118455207 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1244C>G (p.Ser415Cys) single nucleotide variant Inborn genetic diseases [RCV002836021] Chr11:118597709 [GRCh38]
Chr11:118468424 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.653+13G>A single nucleotide variant not provided [RCV002654073] Chr11:118584027 [GRCh38]
Chr11:118454742 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.653+4T>C single nucleotide variant not provided [RCV002604662] Chr11:118584018 [GRCh38]
Chr11:118454733 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1133-5C>T single nucleotide variant not provided [RCV003049743] Chr11:118593585 [GRCh38]
Chr11:118464300 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1029A>G (p.Leu343=) single nucleotide variant not provided [RCV002604837] Chr11:118592753 [GRCh38]
Chr11:118463468 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1027C>T (p.Leu343=) single nucleotide variant not provided [RCV003052343] Chr11:118592751 [GRCh38]
Chr11:118463466 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.352G>A (p.Ala118Thr) single nucleotide variant not provided [RCV002608313] Chr11:118583263 [GRCh38]
Chr11:118453978 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1167T>C (p.Cys389=) single nucleotide variant not provided [RCV002636024] Chr11:118593624 [GRCh38]
Chr11:118464339 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.941G>A (p.Arg314His) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV003138338]|not provided [RCV002726065] Chr11:118590463 [GRCh38]
Chr11:118461178 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1132+10T>G single nucleotide variant not provided [RCV002590034] Chr11:118592866 [GRCh38]
Chr11:118463581 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1482C>T (p.Pro494=) single nucleotide variant not provided [RCV002610734] Chr11:118600660 [GRCh38]
Chr11:118471375 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1384C>G (p.Pro462Ala) single nucleotide variant Inborn genetic diseases [RCV004651995]|not provided [RCV002613280] Chr11:118597849 [GRCh38]
Chr11:118468564 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.268-7C>T single nucleotide variant not provided [RCV002611493] Chr11:118583172 [GRCh38]
Chr11:118453887 [GRCh37]
Chr11:11q23.3		 benign
NM_001655.5(ARCN1):c.989A>T (p.His330Leu) single nucleotide variant not provided [RCV003214154] Chr11:118592713 [GRCh38]
Chr11:118463428 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.646C>T (p.Pro216Ser) single nucleotide variant Inborn genetic diseases [RCV003304434] Chr11:118584007 [GRCh38]
Chr11:118454722 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.814G>T (p.Glu272Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV003142671] Chr11:118584640 [GRCh38]
Chr11:118455355 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_001655.5(ARCN1):c.1253G>C (p.Gly418Ala) single nucleotide variant Inborn genetic diseases [RCV003198575] Chr11:118597718 [GRCh38]
Chr11:118468433 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.428T>G (p.Val143Gly) single nucleotide variant not specified [RCV003324435] Chr11:118583339 [GRCh38]
Chr11:118454054 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.904A>T (p.Met302Leu) single nucleotide variant not provided [RCV003880808] Chr11:118590426 [GRCh38]
Chr11:118461141 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_001655.5(ARCN1):c.421G>C (p.Glu141Gln) single nucleotide variant not provided [RCV003443433] Chr11:118583332 [GRCh38]
Chr11:118454047 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.649G>C (p.Ala217Pro) single nucleotide variant ARCN1-related disorder [RCV003391286] Chr11:118584010 [GRCh38]
Chr11:118454725 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.21G>T (p.Ala7=) single nucleotide variant not provided [RCV003848938] Chr11:118581263 [GRCh38]
Chr11:118451978 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.897C>T (p.Gly299=) single nucleotide variant not provided [RCV003880807] Chr11:118590419 [GRCh38]
Chr11:118461134 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1200T>A (p.Asp400Glu) single nucleotide variant not provided [RCV003740321] Chr11:118593657 [GRCh38]
Chr11:118464372 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1012T>C (p.Phe338Leu) single nucleotide variant not provided [RCV003547972] Chr11:118592736 [GRCh38]
Chr11:118463451 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.753C>T (p.Ser251=) single nucleotide variant not provided [RCV003577911] Chr11:118584579 [GRCh38]
Chr11:118455294 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1206A>G (p.Leu402=) single nucleotide variant not provided [RCV003878258] Chr11:118593663 [GRCh38]
Chr11:118464378 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.73A>G (p.Thr25Ala) single nucleotide variant not provided [RCV003659929] Chr11:118581315 [GRCh38]
Chr11:118452030 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.538G>A (p.Ala180Thr) single nucleotide variant not provided [RCV003834881] Chr11:118583899 [GRCh38]
Chr11:118454614 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.384A>G (p.Ala128=) single nucleotide variant not provided [RCV003696950] Chr11:118583295 [GRCh38]
Chr11:118454010 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1002T>C (p.Asp334=) single nucleotide variant not provided [RCV003811557] Chr11:118592726 [GRCh38]
Chr11:118463441 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.799C>T (p.Pro267Ser) single nucleotide variant not provided [RCV003810725] Chr11:118584625 [GRCh38]
Chr11:118455340 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.405A>G (p.Glu135=) single nucleotide variant not provided [RCV003548139] Chr11:118583316 [GRCh38]
Chr11:118454031 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.543A>C (p.Pro181=) single nucleotide variant not provided [RCV003726452] Chr11:118583904 [GRCh38]
Chr11:118454619 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1241+16G>A single nucleotide variant not provided [RCV003837768] Chr11:118593714 [GRCh38]
Chr11:118464429 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.268-8A>G single nucleotide variant not provided [RCV003664957] Chr11:118583171 [GRCh38]
Chr11:118453886 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1307A>G (p.Asn436Ser) single nucleotide variant not provided [RCV003664008] Chr11:118597772 [GRCh38]
Chr11:118468487 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.387G>A (p.Gln129=) single nucleotide variant not specified [RCV003995028] Chr11:118583298 [GRCh38]
Chr11:118454013 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1105A>T (p.Thr369Ser) single nucleotide variant not provided [RCV003700646] Chr11:118592829 [GRCh38]
Chr11:118463544 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.195T>C (p.Tyr65=) single nucleotide variant not provided [RCV003723696] Chr11:118581437 [GRCh38]
Chr11:118452152 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1112A>C (p.Glu371Ala) single nucleotide variant not provided [RCV003671468] Chr11:118592836 [GRCh38]
Chr11:118463551 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.819-11T>G single nucleotide variant not provided [RCV003560350] Chr11:118590330 [GRCh38]
Chr11:118461045 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1242-10C>G single nucleotide variant not provided [RCV003729716] Chr11:118597697 [GRCh38]
Chr11:118468412 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1194A>G (p.Gln398=) single nucleotide variant ARCN1-related disorder [RCV003901330]|not provided [RCV003730659] Chr11:118593651 [GRCh38]
Chr11:118464366 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.767A>G (p.Lys256Arg) single nucleotide variant not provided [RCV003841167] Chr11:118584593 [GRCh38]
Chr11:118455308 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1509C>G (p.Phe503Leu) single nucleotide variant not provided [RCV003677812] Chr11:118600687 [GRCh38]
Chr11:118471402 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.888G>A (p.Glu296=) single nucleotide variant not provided [RCV003864388] Chr11:118590410 [GRCh38]
Chr11:118461125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.711del (p.Phe238fs) deletion not provided [RCV003563422] Chr11:118584537 [GRCh38]
Chr11:118455252 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.268-3T>C single nucleotide variant not provided [RCV003676704] Chr11:118583176 [GRCh38]
Chr11:118453891 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.904A>G (p.Met302Val) single nucleotide variant Inborn genetic diseases [RCV004369070]|not provided [RCV003553252] Chr11:118590426 [GRCh38]
Chr11:118461141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.826A>G (p.Met276Val) single nucleotide variant Inborn genetic diseases [RCV004661686]|not provided [RCV003557162] Chr11:118590348 [GRCh38]
Chr11:118461063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.265G>C (p.Val89Leu) single nucleotide variant not provided [RCV003685817] Chr11:118581507 [GRCh38]
Chr11:118452222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.691A>C (p.Lys231Gln) single nucleotide variant not provided [RCV003818548] Chr11:118584517 [GRCh38]
Chr11:118455232 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.448-20A>G single nucleotide variant not provided [RCV003542175] Chr11:118583789 [GRCh38]
Chr11:118454504 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.255C>T (p.Leu85=) single nucleotide variant not provided [RCV003840777] Chr11:118581497 [GRCh38]
Chr11:118452212 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1447-8T>C single nucleotide variant not provided [RCV003565244] Chr11:118600617 [GRCh38]
Chr11:118471332 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.1533G>A (p.Leu511=) single nucleotide variant not provided [RCV003860222] Chr11:118600711 [GRCh38]
Chr11:118471426 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.406A>G (p.Met136Val) single nucleotide variant not specified [RCV003995027] Chr11:118583317 [GRCh38]
Chr11:118454032 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.886dup (p.Glu296fs) duplication Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV003988899] Chr11:118590406..118590407 [GRCh38]
Chr11:118461121..118461122 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1209A>C (p.Glu403Asp) single nucleotide variant not provided [RCV003993308] Chr11:118593666 [GRCh38]
Chr11:118464381 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_001655.5(ARCN1):c.682C>T (p.Leu228Phe) single nucleotide variant Inborn genetic diseases [RCV004420201] Chr11:118584508 [GRCh38]
Chr11:118455223 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1193A>G (p.Gln398Arg) single nucleotide variant Inborn genetic diseases [RCV004420199] Chr11:118593650 [GRCh38]
Chr11:118464365 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.83G>A (p.Arg28Gln) single nucleotide variant Inborn genetic diseases [RCV004420203] Chr11:118581325 [GRCh38]
Chr11:118452040 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.794A>C (p.His265Pro) single nucleotide variant Inborn genetic diseases [RCV004420202] Chr11:118584620 [GRCh38]
Chr11:118455335 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1207G>T (p.Glu403Ter) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV004545955] Chr11:118593664 [GRCh38]
Chr11:118464379 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.984+7A>G single nucleotide variant ARCN1-related disorder [RCV003944283] Chr11:118590513 [GRCh38]
Chr11:118461228 [GRCh37]
Chr11:11q23.3		 likely benign
NM_001655.5(ARCN1):c.593C>A (p.Ala198Asp) single nucleotide variant Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay [RCV004560526] Chr11:118583954 [GRCh38]
Chr11:118454669 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)del deletion not provided [RCV004580297] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_001655.5(ARCN1):c.1322G>T (p.Cys441Phe) single nucleotide variant Inborn genetic diseases [RCV004648582] Chr11:118597787 [GRCh38]
Chr11:118468502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.56G>A (p.Arg19Gln) single nucleotide variant Inborn genetic diseases [RCV004648609] Chr11:118581298 [GRCh38]
Chr11:118452013 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.319T>C (p.Phe107Leu) single nucleotide variant not specified [RCV004586292] Chr11:118583230 [GRCh38]
Chr11:118453945 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.757A>G (p.Ser253Gly) single nucleotide variant Inborn genetic diseases [RCV004660146] Chr11:118584583 [GRCh38]
Chr11:118455298 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.482G>A (p.Arg161His) single nucleotide variant Inborn genetic diseases [RCV004648603] Chr11:118583843 [GRCh38]
Chr11:118454558 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1395C>G (p.Phe465Leu) single nucleotide variant ARCN1-related disorder [RCV004753953] Chr11:118597860 [GRCh38]
Chr11:118468575 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.-3A>G single nucleotide variant not specified [RCV004700110] Chr11:118572545 [GRCh38]
Chr11:118443260 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1406A>C (p.Gln469Pro) single nucleotide variant not provided [RCV004761154]   uncertain significance
NM_001655.5(ARCN1):c.1250T>G (p.Val417Gly) single nucleotide variant Inborn genetic diseases [RCV003360244] Chr11:118597715 [GRCh38]
Chr11:118468430 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001655.5(ARCN1):c.1447G>A (p.Val483Ile) single nucleotide variant not provided [RCV003329912] Chr11:118600625 [GRCh38]
Chr11:118471340 [GRCh37]
Chr11:11q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2933
Count of miRNA genes:724
Interacting mature miRNAs:843
Transcripts:ENST00000264028, ENST00000359415, ENST00000392859, ENST00000534182
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407347303GWAS996279_Htotal cholesterol measurement QTL GWAS996279 (human)2e-23total cholesterol measurementblood total cholesterol level (CMO:0000051)11118578681118578682Human
407064291GWAS713267_Hmonocyte percentage of leukocytes QTL GWAS713267 (human)3e-13monocyte percentage of leukocytesblood monocyte count to total leukocyte count ratio (CMO:0000374)11118596875118596876Human
407155398GWAS804374_Hlow density lipoprotein cholesterol measurement QTL GWAS804374 (human)9e-16low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11118590890118590891Human
407308164GWAS957140_Hlow density lipoprotein cholesterol measurement QTL GWAS957140 (human)9e-20low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)11118578655118578656Human
407362916GWAS1011892_Htotal cholesterol measurement QTL GWAS1011892 (human)5e-09total cholesterol measurementblood total cholesterol level (CMO:0000051)11118595534118595535Human
406957381GWAS606357_Htotal cholesterol measurement QTL GWAS606357 (human)2e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)11118578655118578656Human
407317442GWAS966418_Hnon-high density lipoprotein cholesterol measurement QTL GWAS966418 (human)4e-14non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)11118579031118579032Human
407329409GWAS978385_Hnon-high density lipoprotein cholesterol measurement QTL GWAS978385 (human)5e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)11118596875118596876Human
407333961GWAS982937_Hnon-high density lipoprotein cholesterol measurement QTL GWAS982937 (human)3e-10non-high density lipoprotein cholesterol measurementblood non-high density lipoprotein cholesterol level (CMO:0003967)11118574758118574759Human
407347049GWAS996025_Htotal cholesterol measurement QTL GWAS996025 (human)1e-12total cholesterol measurementblood total cholesterol level (CMO:0000051)11118574758118574759Human
406957398GWAS606374_Htotal cholesterol measurement QTL GWAS606374 (human)9e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)11118578655118578656Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
407149178GWAS798154_Htotal cholesterol measurement QTL GWAS798154 (human)4e-15total cholesterol measurementblood total cholesterol level (CMO:0000051)11118600708118600709Human
407200378GWAS849354_Hmonocyte count QTL GWAS849354 (human)4e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)11118596875118596876Human

Markers in Region
HSC26A042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,473,396 - 118,473,612UniSTSGRCh37
Build 3611117,978,606 - 117,978,822RGDNCBI36
Celera11115,634,168 - 115,634,384RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,410,893 - 114,411,109UniSTS
GeneMap99-GB4 RH Map11382.18UniSTS
Whitehead-RH Map11527.5UniSTS
SHGC-80669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,473,354 - 118,473,686UniSTSGRCh37
Build 3611117,978,564 - 117,978,896RGDNCBI36
Celera11115,634,126 - 115,634,458RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,410,851 - 114,411,183UniSTS
TNG Radiation Hybrid Map1154834.0UniSTS
G62126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,473,301 - 118,473,464UniSTSGRCh37
Build 3611117,978,511 - 117,978,674RGDNCBI36
Celera11115,634,073 - 115,634,236RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,410,798 - 114,410,961UniSTS
WI-12394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,473,505 - 118,473,630UniSTSGRCh37
Build 3611117,978,715 - 117,978,840RGDNCBI36
Celera11115,634,277 - 115,634,402RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,411,002 - 114,411,127UniSTS
GeneMap99-GB4 RH Map11382.87UniSTS
Whitehead-RH Map11537.5UniSTS
MARC_16122-16123:1018032385:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,453,991 - 118,454,607UniSTSGRCh37
Build 3611117,959,201 - 117,959,817RGDNCBI36
Celera11115,614,767 - 115,615,383RGD
HuRef11114,391,487 - 114,392,103UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
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Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_189131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_189132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA856562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU125652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI560739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR988766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB216489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264028   ⟹   ENSP00000264028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,572,409 - 118,603,033 (+)Ensembl
Ensembl Acc Id: ENST00000359415   ⟹   ENSP00000352385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,572,424 - 118,602,928 (+)Ensembl
Ensembl Acc Id: ENST00000392859   ⟹   ENSP00000376599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,572,390 - 118,600,993 (+)Ensembl
Ensembl Acc Id: ENST00000534182   ⟹   ENSP00000431676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,572,436 - 118,603,033 (+)Ensembl
Ensembl Acc Id: ENST00000614498   ⟹   ENSP00000482114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,572,424 - 118,602,927 (+)Ensembl
RefSeq Acc Id: NM_001142281   ⟹   NP_001135753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
GRCh3711118,443,078 - 118,473,748 (+)NCBI
Celera11115,603,886 - 115,634,520 (+)RGD
HuRef11114,380,702 - 114,411,245 (+)ENTREZGENE
CHM1_111118,329,760 - 118,360,405 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001425073   ⟹   NP_001412002
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425074   ⟹   NP_001412003
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425075   ⟹   NP_001412004
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425076   ⟹   NP_001412005
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425077   ⟹   NP_001412006
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425078   ⟹   NP_001412007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425079   ⟹   NP_001412008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425080   ⟹   NP_001412009
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001425081   ⟹   NP_001412010
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NM_001655   ⟹   NP_001646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
GRCh3711118,443,078 - 118,473,748 (+)NCBI
Build 3611117,948,321 - 117,978,855 (+)NCBI Archive
Celera11115,603,886 - 115,634,520 (+)RGD
HuRef11114,380,702 - 114,411,245 (+)ENTREZGENE
CHM1_111118,329,760 - 118,360,405 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
Sequence:
RefSeq Acc Id: NR_189131
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
RefSeq Acc Id: NR_189132
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,603,033 (+)NCBI
T2T-CHM13v2.011118,591,694 - 118,622,309 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001135753 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412002 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412003 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412004 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412005 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412006 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412008 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412009 (Get FASTA)   NCBI Sequence Viewer  
  NP_001412010 (Get FASTA)   NCBI Sequence Viewer  
  NP_001646 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH64936 (Get FASTA)   NCBI Sequence Viewer  
  AAH93636 (Get FASTA)   NCBI Sequence Viewer  
  AAH93638 (Get FASTA)   NCBI Sequence Viewer  
  ACA05943 (Get FASTA)   NCBI Sequence Viewer  
  ACA05944 (Get FASTA)   NCBI Sequence Viewer  
  BAG35225 (Get FASTA)   NCBI Sequence Viewer  
  BAG64934 (Get FASTA)   NCBI Sequence Viewer  
  CAA57071 (Get FASTA)   NCBI Sequence Viewer  
  CAE45922 (Get FASTA)   NCBI Sequence Viewer  
  EAW67397 (Get FASTA)   NCBI Sequence Viewer  
  EAW67398 (Get FASTA)   NCBI Sequence Viewer  
  EAW67399 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264028
  ENSP00000264028.4
  ENSP00000352385
  ENSP00000352385.4
  ENSP00000376599
  ENSP00000376599.3
  ENSP00000431676.1
GenBank Protein P48444 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001646   ⟸   NM_001655
- Peptide Label: isoform 1
- UniProtKB: E9PEU4 (UniProtKB/Swiss-Prot),   B4E1X2 (UniProtKB/Swiss-Prot),   Q52M80 (UniProtKB/Swiss-Prot),   P48444 (UniProtKB/Swiss-Prot),   B0YIW5 (UniProtKB/TrEMBL),   B0YIW6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135753   ⟸   NM_001142281
- Peptide Label: isoform 2
- UniProtKB: P48444 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352385   ⟸   ENST00000359415
Ensembl Acc Id: ENSP00000431676   ⟸   ENST00000534182
Ensembl Acc Id: ENSP00000482114   ⟸   ENST00000614498
Ensembl Acc Id: ENSP00000376599   ⟸   ENST00000392859
Ensembl Acc Id: ENSP00000264028   ⟸   ENST00000264028
RefSeq Acc Id: NP_001412005   ⟸   NM_001425076
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001412002   ⟸   NM_001425073
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001412007   ⟸   NM_001425078
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001412006   ⟸   NM_001425077
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001412003   ⟸   NM_001425074
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001412008   ⟸   NM_001425079
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001412004   ⟸   NM_001425075
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001412010   ⟸   NM_001425081
- Peptide Label: isoform 11
RefSeq Acc Id: NP_001412009   ⟸   NM_001425080
- Peptide Label: isoform 10
Protein Domains
AP complex mu/sigma subunit   MHD

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48444-F1-model_v2 AlphaFold P48444 1-511 view protein structure

Promoters
RGD ID:6788489
Promoter ID:HG_KWN:14331
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392859,   NM_001142281,   NM_001655,   UC009ZAG.1,   UC009ZAH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,948,121 - 117,948,621 (+)MPROMDB
RGD ID:6788751
Promoter ID:HG_KWN:14332
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000359415
Position:
Human AssemblyChrPosition (strand)Source
Build 3611117,948,914 - 117,949,414 (+)MPROMDB
RGD ID:7222319
Promoter ID:EPDNEW_H16905
Type:initiation region
Name:ARCN1_1
Description:archain 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,572,409 - 118,572,469EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:649 AgrOrtholog
COSMIC ARCN1 COSMIC
Ensembl Genes ENSG00000095139 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264028 ENTREZGENE
  ENST00000264028.5 UniProtKB/Swiss-Prot
  ENST00000359415 ENTREZGENE
  ENST00000359415.8 UniProtKB/TrEMBL
  ENST00000392859 ENTREZGENE
  ENST00000392859.7 UniProtKB/Swiss-Prot
  ENST00000534182.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.450.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mu homology domain, subdomain B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095139 GTEx
HGNC ID HGNC:649 ENTREZGENE
Human Proteome Map ARCN1 Human Proteome Map
InterPro AP2_Mu_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AP_mu_sigma_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Coatomer_dsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Longin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 372 ENTREZGENE
OMIM 600820 OMIM
PANTHER COATOMER SUBUNIT DELTA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10121 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Adap_comp_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Clat_adaptor_s UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24931 PharmGKB
PROSITE MHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64356 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0YIW5 ENTREZGENE, UniProtKB/TrEMBL
  B0YIW6 ENTREZGENE, UniProtKB/TrEMBL
  B4E1X2 ENTREZGENE
  COPD_HUMAN UniProtKB/Swiss-Prot
  E9PEU4 ENTREZGENE
  E9PK34_HUMAN UniProtKB/TrEMBL
  P48444 ENTREZGENE
  Q52M80 ENTREZGENE
  Q6P1Q5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4E1X2 UniProtKB/Swiss-Prot
  E9PEU4 UniProtKB/Swiss-Prot
  Q52M80 UniProtKB/Swiss-Prot