MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2) Homo sapiens
Analyze
Symbol: MAGI2
Name: membrane associated guanylate kinase, WW and PDZ domain containing 2
RGD ID: 735850
HGNC Page HGNC:18957
Description: Enables beta-1 adrenergic receptor binding activity; phosphatase binding activity; and signaling receptor complex adaptor activity. Involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and positive regulation of receptor internalization. Located in several cellular components, including bicellular tight junction; nucleus; and plasma membrane. Implicated in nephrotic syndrome type 15.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activin receptor interacting protein 1; ACVRIP1; AIP-1; AIP1; ARIP1; atrophin 1 interacting protein 1; atrophin-1 interacting protein A; atrophin-1-interacting protein 1; atrophin-1-interacting protein A; MAGI-2; membrane-associated guanylate kinase inverted 2; membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2; NPHS15; SSCAM
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38778,017,055 - 79,453,667 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl778,017,055 - 79,453,667 (-)EnsemblGRCh38hg38GRCh38
GRCh37777,646,372 - 79,082,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36777,484,310 - 78,920,826 (-)NCBINCBI36Build 36hg18NCBI36
Build 34777,291,048 - 78,727,541NCBI
Celera772,346,978 - 73,783,869 (-)NCBICelera
Cytogenetic Map7q21.11NCBI
HuRef772,249,405 - 73,685,020 (-)NCBIHuRef
CHM1_1777,576,560 - 79,013,089 (-)NCBICHM1_1
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2776,978,436 - 78,414,480 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5-aza-2'-deoxycytidine  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butanal  (EXP)
Butylparaben  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
CGP 52608  (EXP)
chromium(6+)  (EXP)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
DDE  (ISO)
dibutyl phthalate  (ISO)
Didecyldimethylammonium  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
fulvestrant  (EXP)
furan  (ISO)
hexane  (ISO)
L-ascorbic acid  (ISO)
linuron  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
pyrethrins  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
succimer  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9647693   PMID:9734811   PMID:9847074   PMID:10080919   PMID:10548487   PMID:10681527   PMID:10760291   PMID:11526121   PMID:11707428   PMID:11826105   PMID:12421765   PMID:12477932  
PMID:12589829   PMID:12690205   PMID:12853948   PMID:14529612   PMID:15122254   PMID:15451561   PMID:15652357   PMID:16316992   PMID:16533813   PMID:17353931   PMID:17579610   PMID:17880912  
PMID:17989107   PMID:18565486   PMID:18720471   PMID:19086053   PMID:19240061   PMID:19668339   PMID:19913121   PMID:19948740   PMID:20096742   PMID:20101691   PMID:20379614   PMID:20534871  
PMID:20628086   PMID:20668459   PMID:20966902   PMID:21515326   PMID:21873635   PMID:22041458   PMID:22381734   PMID:22649501   PMID:23007406   PMID:23236378   PMID:23251661   PMID:23576434  
PMID:23754155   PMID:23782696   PMID:23873930   PMID:23897914   PMID:24258346   PMID:24324551   PMID:24608321   PMID:24985972   PMID:25342443   PMID:25517131   PMID:26053890   PMID:26344197  
PMID:26980016   PMID:27543977   PMID:27932480   PMID:28514442   PMID:29542165   PMID:29679339   PMID:29791485   PMID:30021884   PMID:30535759   PMID:30726710   PMID:31171376   PMID:32138716  
PMID:32167077   PMID:32296183   PMID:32460013   PMID:32513696   PMID:32581010   PMID:32730644   PMID:33323781   PMID:33713943   PMID:33761624   PMID:33864728   PMID:33888907   PMID:33961781  
PMID:34237299   PMID:34375487   PMID:35224516   PMID:35294925   PMID:35914814   PMID:36585413   PMID:36724073   PMID:37358745   PMID:37950637   PMID:38334954  


Genomics

Comparative Map Data
MAGI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38778,017,055 - 79,453,667 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl778,017,055 - 79,453,667 (-)EnsemblGRCh38hg38GRCh38
GRCh37777,646,372 - 79,082,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36777,484,310 - 78,920,826 (-)NCBINCBI36Build 36hg18NCBI36
Build 34777,291,048 - 78,727,541NCBI
Celera772,346,978 - 73,783,869 (-)NCBICelera
Cytogenetic Map7q21.11NCBI
HuRef772,249,405 - 73,685,020 (-)NCBIHuRef
CHM1_1777,576,560 - 79,013,089 (-)NCBICHM1_1
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2776,978,436 - 78,414,480 (-)NCBI
Magi2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39519,431,787 - 20,909,790 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl519,432,034 - 20,909,790 (+)EnsemblGRCm39 Ensembl
GRCm38519,219,387 - 20,704,792 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl519,227,036 - 20,704,792 (+)EnsemblGRCm38mm10GRCm38
MGSCv37518,732,864 - 20,210,610 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36518,738,799 - 20,216,616 (+)NCBIMGSCv36mm8
Celera516,180,595 - 17,665,978 (+)NCBICelera
Cytogenetic Map5A3NCBI
cM Map58.6NCBI
Magi2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8415,278,518 - 16,762,427 (-)NCBIGRCr8
mRatBN7.2414,386,389 - 15,870,036 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl414,386,399 - 15,870,240 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx419,521,700 - 20,999,622 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0415,323,728 - 16,811,259 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0413,707,338 - 15,197,475 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0410,995,241 - 12,472,423 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl410,995,234 - 11,610,518 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0410,987,831 - 12,456,502 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.449,909,448 - 11,441,301 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1410,054,955 - 11,441,302 (-)NCBI
Celera49,948,183 - 11,419,535 (-)NCBICelera
Cytogenetic Map4q11NCBI
Magi2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554106,400,242 - 7,294,924 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554106,739,115 - 7,295,027 (+)NCBIChiLan1.0ChiLan1.0
MAGI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2695,878,453 - 97,322,027 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17144,143,091 - 145,586,400 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0769,943,704 - 71,395,176 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1783,759,307 - 84,511,987 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl783,758,512 - 84,760,872 (-)Ensemblpanpan1.1panPan2
MAGI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11817,973,058 - 19,098,785 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1817,918,928 - 18,930,059 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1817,565,936 - 18,971,443 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01818,307,564 - 19,031,590 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1818,283,692 - 19,747,053 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11818,054,185 - 19,371,256 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01817,997,659 - 18,302,395 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01818,251,940 - 19,581,985 (-)NCBIUU_Cfam_GSD_1.0
Magi2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511860,250,078 - 60,938,785 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647921,373,746 - 21,920,214 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647921,373,917 - 22,062,498 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAGI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9100,847,013 - 102,170,004 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19100,846,693 - 102,171,199 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29112,312,166 - 112,574,012 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MAGI2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12169,460,345 - 70,916,684 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604233,007,517 - 34,474,279 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Magi2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473927,134,993 - 28,430,686 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473927,132,533 - 28,430,765 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAGI2
390 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012301.4(MAGI2):c.965+77_965+78del deletion not provided [RCV001766293] Chr7:78501499..78501500 [GRCh38]
Chr7:78130816..78130817 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4001G>T (p.Gly1334Val) single nucleotide variant not provided [RCV000729895]|not specified [RCV004026981] Chr7:78019682 [GRCh38]
Chr7:77648999 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1523G>A (p.Arg508His) single nucleotide variant not provided [RCV000728380] Chr7:78256467 [GRCh38]
Chr7:77885784 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3450G>A (p.Met1150Ile) single nucleotide variant not provided [RCV000728597] Chr7:78125811 [GRCh38]
Chr7:77755128 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1 copy number loss See cases [RCV000050709] Chr7:71225344..81735657 [GRCh38]
Chr7:70690330..81364973 [GRCh37]
Chr7:70328266..81202909 [NCBI36]
Chr7:7q11.22-21.11
pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]|See cases [RCV000052318] Chr7:64560824..79186156 [GRCh38]
Chr7:64021202..78815472 [GRCh37]
Chr7:63658637..78653408 [NCBI36]
Chr7:7q11.21-21.11
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.11(chr7:77983002-78329649)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053464]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053464]|See cases [RCV000053464] Chr7:77983002..78329649 [GRCh38]
Chr7:77612319..77958966 [GRCh37]
Chr7:77450255..77796902 [NCBI36]
Chr7:7q21.11
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1 copy number loss See cases [RCV000054118] Chr7:73873420..83988860 [GRCh38]
Chr7:73992744..83618176 [GRCh37]
Chr7:72925686..83456112 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1 copy number loss See cases [RCV000054153] Chr7:75496701..78375575 [GRCh38]
Chr7:75126024..78004892 [GRCh37]
Chr7:74963960..77842828 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
NM_012301.3(MAGI2):c.3496G>A (p.Glu1166Lys) single nucleotide variant Malignant melanoma [RCV000061686] Chr7:78125765 [GRCh38]
Chr7:77755082 [GRCh37]
Chr7:77593018 [NCBI36]
Chr7:7q21.11
not provided
NM_012301.3(MAGI2):c.3203+2164C>T single nucleotide variant Lung cancer [RCV000106478] Chr7:78130725 [GRCh38]
Chr7:77760042 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.2846-4042A>G single nucleotide variant Lung cancer [RCV000106479] Chr7:78139248 [GRCh38]
Chr7:77768565 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.2047+20539G>C single nucleotide variant Lung cancer [RCV000106480] Chr7:78235404 [GRCh38]
Chr7:77864721 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.1409-4822C>G single nucleotide variant Lung cancer [RCV000106481] Chr7:78261403 [GRCh38]
Chr7:77890720 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.1045+19484G>T single nucleotide variant Lung cancer [RCV000106483] Chr7:78470277 [GRCh38]
Chr7:78099594 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.539-27880G>A single nucleotide variant Lung cancer [RCV000106485] Chr7:78549525 [GRCh38]
Chr7:78178842 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.538+46788G>T single nucleotide variant Lung cancer [RCV000106486] Chr7:78580331 [GRCh38]
Chr7:78209648 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.419-92455A>T single nucleotide variant Lung cancer [RCV000106487] Chr7:78719694 [GRCh38]
Chr7:78349010 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.419-132625G>T single nucleotide variant Lung cancer [RCV000106488] Chr7:78759864 [GRCh38]
Chr7:78389180 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.419-147024G>T single nucleotide variant Lung cancer [RCV000106489] Chr7:78774263 [GRCh38]
Chr7:78403579 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.419-171591G>T single nucleotide variant Lung cancer [RCV000106490] Chr7:78798830 [GRCh38]
Chr7:78428146 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.419-171983C>A single nucleotide variant Lung cancer [RCV000106491] Chr7:78799222 [GRCh38]
Chr7:78428538 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.418+175425G>A single nucleotide variant Lung cancer [RCV000106492] Chr7:78831665 [GRCh38]
Chr7:78460981 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.418+144298T>C single nucleotide variant Lung cancer [RCV000106493] Chr7:78862792 [GRCh38]
Chr7:78492108 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.418+137121C>T single nucleotide variant Lung cancer [RCV000106494] Chr7:78869969 [GRCh38]
Chr7:78499285 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.418+49162T>A single nucleotide variant Lung cancer [RCV000106495] Chr7:78957928 [GRCh38]
Chr7:78587244 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.301+87538A>T single nucleotide variant Lung cancer [RCV000106496] Chr7:79365482 [GRCh38]
Chr7:78994798 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.3(MAGI2):c.301+86012A>G single nucleotide variant Lung cancer [RCV000106497] Chr7:79367008 [GRCh38]
Chr7:78996324 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1713C>T (p.Ser571=) single nucleotide variant not provided [RCV000117558] Chr7:78256277 [GRCh38]
Chr7:77885594 [GRCh37]
Chr7:7q21.11
conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) single nucleotide variant not provided [RCV000723928]|not specified [RCV000259114] Chr7:78195012 [GRCh38]
Chr7:77824329 [GRCh37]
Chr7:7q21.11
conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2793C>T (p.Phe931=) single nucleotide variant not specified [RCV000117560] Chr7:78160077 [GRCh38]
Chr7:77789394 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3400C>G (p.Leu1134Val) single nucleotide variant not provided [RCV000117561] Chr7:78127220 [GRCh38]
Chr7:77756537 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4353G>A (p.Ser1451=) single nucleotide variant MAGI2-related disorder [RCV003952571]|Nephrotic syndrome 15 [RCV002477291]|not provided [RCV002528218]|not specified [RCV001815186] Chr7:78019330 [GRCh38]
Chr7:77648647 [GRCh37]
Chr7:7q21.11
likely benign|uncertain significance
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile) single nucleotide variant not provided [RCV000724320]|not specified [RCV000117563] Chr7:78501664 [GRCh38]
Chr7:78130981 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.893A>G (p.Asn298Ser) single nucleotide variant not provided [RCV000884654]|not specified [RCV000117564] Chr7:78501649 [GRCh38]
Chr7:78130966 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1755C>T (p.Pro585=) single nucleotide variant not provided [RCV001618254]|not specified [RCV000081536] Chr7:78256235 [GRCh38]
Chr7:77885552 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2384G>A (p.Gly795Glu) single nucleotide variant not provided [RCV000081537] Chr7:78178030 [GRCh38]
Chr7:77807347 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.276C>G (p.Pro92=) single nucleotide variant MAGI2-related disorder [RCV003974977]|Nephrotic syndrome 15 [RCV002504998]|not provided [RCV000710162]|not specified [RCV000081538] Chr7:79453045 [GRCh38]
Chr7:79082361 [GRCh37]
Chr7:7q21.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_012301.4(MAGI2):c.3915G>A (p.Gln1305=) single nucleotide variant not provided [RCV001753483]|not specified [RCV000081539] Chr7:78019768 [GRCh38]
Chr7:77649085 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.4269G>C (p.Pro1423=) single nucleotide variant not provided [RCV001689629]|not specified [RCV000081540] Chr7:78019414 [GRCh38]
Chr7:77648731 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.4329C>G (p.Pro1443=) single nucleotide variant Nephrotic syndrome 15 [RCV001775580]|not provided [RCV001534091]|not specified [RCV000081541] Chr7:78019354 [GRCh38]
Chr7:77648671 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1014G>A (p.Lys338=) single nucleotide variant not provided [RCV000712248]|not specified [RCV000117565] Chr7:78489792 [GRCh38]
Chr7:78119109 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.219C>T (p.Pro73=) single nucleotide variant MAGI2-related disorder [RCV003952572]|not provided [RCV000117566]|not specified [RCV000173431] Chr7:79453102 [GRCh38]
Chr7:79082418 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2213G>A (p.Arg738Gln) single nucleotide variant MAGI2-related disorder [RCV003905121]|not provided [RCV002055289]|not specified [RCV000117567] Chr7:78194930 [GRCh38]
Chr7:77824247 [GRCh37]
Chr7:7q21.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2329T>C (p.Leu777=) single nucleotide variant not provided [RCV000712250]|not specified [RCV000117568] Chr7:78178085 [GRCh38]
Chr7:77807402 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.2379C>T (p.Leu793=) single nucleotide variant MAGI2-related disorder [RCV003905122]|not provided [RCV000712251]|not specified [RCV000117569] Chr7:78178035 [GRCh38]
Chr7:77807352 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.2723C>A (p.Pro908His) single nucleotide variant not specified [RCV000117570] Chr7:78160147 [GRCh38]
Chr7:77789464 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.2784T>C (p.Asn928=) single nucleotide variant not provided [RCV000712252]|not specified [RCV000117571] Chr7:78160086 [GRCh38]
Chr7:77789403 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.3213G>A (p.Ser1071=) single nucleotide variant Nephrotic syndrome 15 [RCV001775584]|not provided [RCV000712255]|not specified [RCV000117572] Chr7:78127407 [GRCh38]
Chr7:77756724 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.3357A>G (p.Leu1119=) single nucleotide variant Nephrotic syndrome 15 [RCV001775585]|not provided [RCV000712256]|not specified [RCV000117573] Chr7:78127263 [GRCh38]
Chr7:77756580 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.531T>C (p.Thr177=) single nucleotide variant not provided [RCV000712258]|not specified [RCV000117574] Chr7:78627127 [GRCh38]
Chr7:78256443 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.900A>G (p.Glu300=) single nucleotide variant MAGI2-related disorder [RCV003952573]|Nephrotic syndrome 15 [RCV002498517]|not provided [RCV000885452]|not specified [RCV000117575] Chr7:78501642 [GRCh38]
Chr7:78130959 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.1340A>T (p.Asp447Val) single nucleotide variant Malignant tumor of prostate [RCV000149197] Chr7:78343846 [GRCh38]
Chr7:77973163 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) single nucleotide variant Nephrotic syndrome 15 [RCV002478560]|not provided [RCV000173850] Chr7:78256460 [GRCh38]
Chr7:77885777 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2012T>C (p.Ile671Thr) single nucleotide variant Nephrotic syndrome 15 [RCV002485121]|not provided [RCV000173851] Chr7:78255978 [GRCh38]
Chr7:77885295 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) single nucleotide variant MAGI2-related disorder [RCV003947472]|not provided [RCV000174365] Chr7:78195001 [GRCh38]
Chr7:77824318 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=) single nucleotide variant MAGI2-related disorder [RCV003917619]|not provided [RCV000174916] Chr7:78168058 [GRCh38]
Chr7:77797375 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) single nucleotide variant Nephrotic syndrome 15 [RCV002500472]|not provided [RCV000175069] Chr7:78160040 [GRCh38]
Chr7:77789357 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2958G>T (p.Met986Ile) single nucleotide variant Nephrotic syndrome 15 [RCV002500474]|not provided [RCV000175200] Chr7:78135094 [GRCh38]
Chr7:77764411 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3 copy number gain See cases [RCV000137450] Chr7:76440557..78180243 [GRCh38]
Chr7:76069874..77809560 [GRCh37]
Chr7:75907810..77647496 [NCBI36]
Chr7:7q11.23-21.11
uncertain significance
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 copy number loss See cases [RCV000142381] Chr7:74377395..82031742 [GRCh38]
Chr7:73992744..81661058 [GRCh37]
Chr7:73429661..81498994 [NCBI36]
Chr7:7q11.23-21.11
pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071) copy number gain See cases [RCV000143454] Chr7:72179092..79164071 [GRCh38]
Chr7:71644077..78793387 [GRCh37]
Chr7:71282013..78631323 [NCBI36]
Chr7:7q11.22-21.11
likely pathogenic
NM_012301.4(MAGI2):c.3706+5G>A single nucleotide variant not provided [RCV000712257] Chr7:78078942 [GRCh38]
Chr7:77708259 [GRCh37]
Chr7:7q21.11
conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.4109G>C (p.Arg1370Pro) single nucleotide variant Nephrotic syndrome 15 [RCV002478575]|not provided [RCV000176311]|not specified [RCV004020089] Chr7:78019574 [GRCh38]
Chr7:77648891 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.927A>T (p.Glu309Asp) single nucleotide variant not provided [RCV000178925] Chr7:78501615 [GRCh38]
Chr7:78130932 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1391A>G (p.Asp464Gly) single nucleotide variant not provided [RCV000180638]|not specified [RCV004020178] Chr7:78343795 [GRCh38]
Chr7:77973112 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4177GGC[6] (p.Gly1395_Gly1396dup) microsatellite not specified [RCV000192385] Chr7:78019494..78019495 [GRCh38]
Chr7:77648811..77648812 [GRCh37]
Chr7:7q21.11
likely benign
GRCh37/hg19 7q21.11(chr7:78893211-79082851)x3 copy number gain See cases [RCV000446041] Chr7:78893211..79082851 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77972816-79082129)x1 copy number loss See cases [RCV000239784] Chr7:77972816..79082129 [GRCh37]
Chr7:7q21.11
likely pathogenic
GRCh37/hg19 7q21.11(chr7:77972816-78186999)x1 copy number loss See cases [RCV000240434] Chr7:77972816..78186999 [GRCh37]
Chr7:7q21.11
likely pathogenic
NM_012301.4(MAGI2):c.817C>G (p.Pro273Ala) single nucleotide variant Nephrotic syndrome 15 [RCV002494876]|not provided [RCV000374087] Chr7:78501725 [GRCh38]
Chr7:78131042 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3083C>T (p.Ala1028Val) single nucleotide variant Nephrotic syndrome 15 [RCV002487238]|not provided [RCV000377289] Chr7:78133009 [GRCh38]
Chr7:77762326 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.528G>A (p.Gly176=) single nucleotide variant MAGI2-related disorder [RCV003920085]|Nephrotic syndrome 15 [RCV002502123]|not provided [RCV000918121]|not specified [RCV000384223] Chr7:78627130 [GRCh38]
Chr7:78256446 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.644G>A (p.Arg215Gln) single nucleotide variant not provided [RCV000350618] Chr7:78521540 [GRCh38]
Chr7:78150857 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3798T>C (p.Ser1266=) single nucleotide variant not provided [RCV000288203] Chr7:78019885 [GRCh38]
Chr7:77649202 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1954C>A (p.Gln652Lys) single nucleotide variant not provided [RCV000321397] Chr7:78256036 [GRCh38]
Chr7:77885353 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3911G>A (p.Gly1304Asp) single nucleotide variant MAGI2-related disorder [RCV003920054]|not provided [RCV000861139]|not specified [RCV000399618] Chr7:78019772 [GRCh38]
Chr7:77649089 [GRCh37]
Chr7:7q21.11
likely benign|uncertain significance
NM_012301.4(MAGI2):c.3739G>A (p.Ala1247Thr) single nucleotide variant Nephrotic syndrome 15 [RCV002480023]|not provided [RCV000294419] Chr7:78019944 [GRCh38]
Chr7:77649261 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2616C>T (p.Asn872=) single nucleotide variant Nephrotic syndrome 15 [RCV002494840]|not provided [RCV002059149]|not specified [RCV000296073] Chr7:78160254 [GRCh38]
Chr7:77789571 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=) single nucleotide variant not provided [RCV000402098] Chr7:78256253 [GRCh38]
Chr7:77885570 [GRCh37]
Chr7:7q21.11
conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.3707-10C>T single nucleotide variant not provided [RCV000332891] Chr7:78019986 [GRCh38]
Chr7:77649303 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1406C>T (p.Thr469Ile) single nucleotide variant Nephrotic syndrome 15 [RCV002487271]|not provided [RCV000336308] Chr7:78343780 [GRCh38]
Chr7:77973097 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.507T>C (p.Ser169=) single nucleotide variant not provided [RCV000593907] Chr7:78627151 [GRCh38]
Chr7:78256467 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.411G>A (p.Thr137=) single nucleotide variant MAGI2-related disorder [RCV004745497]|Nephrotic syndrome 15 [RCV002476308]|not provided [RCV000597592] Chr7:79007097 [GRCh38]
Chr7:78636413 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012301.4(MAGI2):c.2160A>T (p.Pro720=) single nucleotide variant not provided [RCV000593075] Chr7:78194983 [GRCh38]
Chr7:77824300 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2660G>A (p.Arg887His) single nucleotide variant Nephrotic syndrome 15 [RCV002497245]|not provided [RCV000593701] Chr7:78160210 [GRCh38]
Chr7:77789527 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1861G>A (p.Asp621Asn) single nucleotide variant not provided [RCV000597370] Chr7:78256129 [GRCh38]
Chr7:77885446 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg) single nucleotide variant MAGI2-related disorder [RCV003927909]|Nephrotic syndrome 15 [RCV002476294]|not provided [RCV000592114] Chr7:78160147 [GRCh38]
Chr7:77789464 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.11G>T (p.Ser4Ile) single nucleotide variant not provided [RCV000731098] Chr7:79453310 [GRCh38]
Chr7:79082626 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2117C>T (p.Thr706Met) single nucleotide variant Nephrotic syndrome 15 [RCV000768018]|not provided [RCV002533933] Chr7:78195026 [GRCh38]
Chr7:77824343 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4014C>T (p.Pro1338=) single nucleotide variant not provided [RCV000734430] Chr7:78019669 [GRCh38]
Chr7:77648986 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_012301.4(MAGI2):c.3802T>G (p.Ser1268Ala) single nucleotide variant not provided [RCV000413609] Chr7:78019881 [GRCh38]
Chr7:77649198 [GRCh37]
Chr7:7q21.11
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7q21.11(chr7:78095241-78118995)x3 copy number gain See cases [RCV000449103] Chr7:78095241..78118995 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q21.11(chr7:77609653-78083565)x3 copy number gain See cases [RCV000447521] Chr7:77609653..78083565 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77543097-77998656)x3 copy number gain See cases [RCV000445815] Chr7:77543097..77998656 [GRCh37]
Chr7:7q21.11
likely benign
GRCh37/hg19 7q21.11(chr7:78072972-78118995)x3 copy number gain See cases [RCV000447746] Chr7:78072972..78118995 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:77522245-78019211)x3 copy number gain See cases [RCV000447981] Chr7:77522245..78019211 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_012301.4(MAGI2):c.64_71del (p.Arg22fs) deletion Nephrotic syndrome 15 [RCV000497252] Chr7:79453250..79453257 [GRCh38]
Chr7:79082566..79082573 [GRCh37]
Chr7:7q21.11
pathogenic
NM_012301.4(MAGI2):c.3526_3533dup (p.Glu1178fs) duplication Nephrotic syndrome 15 [RCV000497253] Chr7:78125727..78125728 [GRCh38]
Chr7:77755044..77755045 [GRCh37]
Chr7:7q21.11
pathogenic
NM_012301.4(MAGI2):c.3998del (p.Gly1333fs) deletion Nephrotic syndrome 15 [RCV000497254] Chr7:78019685 [GRCh38]
Chr7:77649002 [GRCh37]
Chr7:7q21.11
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_012301.4(MAGI2):c.2133G>A (p.Pro711=) single nucleotide variant not provided [RCV000595895] Chr7:78195010 [GRCh38]
Chr7:77824327 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1977T>C (p.His659=) single nucleotide variant not provided [RCV000596265] Chr7:78256013 [GRCh38]
Chr7:77885330 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3381C>T (p.Pro1127=) single nucleotide variant not provided [RCV000594642] Chr7:78127239 [GRCh38]
Chr7:77756556 [GRCh37]
Chr7:7q21.11
uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
Single allele deletion not provided [RCV000678008] Chr7:77204062..80706230 [GRCh37]
Chr7:7q11.23-21.11
uncertain significance
NM_012301.4(MAGI2):c.3022C>T (p.Pro1008Ser) single nucleotide variant Nephrotic syndrome 15 [RCV002499291]|not provided [RCV000712253] Chr7:78135030 [GRCh38]
Chr7:77764347 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.307A>G (p.Ile103Val) single nucleotide variant not provided [RCV000712254] Chr7:79007201 [GRCh38]
Chr7:78636517 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1738G>C (p.Gly580Arg) single nucleotide variant not provided [RCV000712249] Chr7:78256252 [GRCh38]
Chr7:77885569 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q11.23-21.11(chr7:75588704-80277632)x1 copy number loss not provided [RCV000746819] Chr7:75588704..80277632 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
GRCh37/hg19 7q21.11(chr7:77672995-77916282)x3 copy number gain not provided [RCV000746834] Chr7:77672995..77916282 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:77767434-77776110)x1 copy number loss not provided [RCV000746835] Chr7:77767434..77776110 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:78805941-78869490)x1 copy number loss not provided [RCV000746836] Chr7:78805941..78869490 [GRCh37]
Chr7:7q21.11
benign
NC_000007.14:g.79453800GT[11] microsatellite not provided [RCV001665695] Chr7:79453800..79453801 [GRCh38]
Chr7:79083116..79083117 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1408+129T>C single nucleotide variant not provided [RCV001690349] Chr7:78343649 [GRCh38]
Chr7:77972966 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2048-241T>G single nucleotide variant not provided [RCV001610284] Chr7:78201434 [GRCh38]
Chr7:77830751 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1777A>G (p.Met593Val) single nucleotide variant Nephrotic syndrome 15 [RCV000768260] Chr7:78256213 [GRCh38]
Chr7:77885530 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.539-4G>C single nucleotide variant not provided [RCV000922918] Chr7:78521649 [GRCh38]
Chr7:78150966 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2304T>C (p.Asp768=) single nucleotide variant not provided [RCV000928825] Chr7:78185636 [GRCh38]
Chr7:77814953 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=) single nucleotide variant not provided [RCV000932443] Chr7:78256565 [GRCh38]
Chr7:77885882 [GRCh37]
Chr7:7q21.11
likely benign|conflicting interpretations of pathogenicity
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_012301.4(MAGI2):c.826G>A (p.Val276Met) single nucleotide variant not provided [RCV000992289]|not specified [RCV004030141] Chr7:78501716 [GRCh38]
Chr7:78131033 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.966-7T>C single nucleotide variant not provided [RCV000917338] Chr7:78489847 [GRCh38]
Chr7:78119164 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3765C>T (p.Gly1255=) single nucleotide variant MAGI2-related disorder [RCV003895454]|not provided [RCV000892074] Chr7:78019918 [GRCh38]
Chr7:77649235 [GRCh37]
Chr7:7q21.11
benign|likely benign
GRCh37/hg19 7q11.23-21.11(chr7:77119381-77726101)x3 copy number gain not provided [RCV000848043] Chr7:77119381..77726101 [GRCh37]
Chr7:7q11.23-21.11
uncertain significance
NM_012301.4(MAGI2):c.3560G>A (p.Arg1187Lys) single nucleotide variant not specified [RCV004309881] Chr7:78125701 [GRCh38]
Chr7:77755018 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1408+174T>G single nucleotide variant not provided [RCV001617647] Chr7:78343604 [GRCh38]
Chr7:77972921 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3423+239G>A single nucleotide variant not provided [RCV001599114] Chr7:78126958 [GRCh38]
Chr7:77756275 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1046-308C>T single nucleotide variant not provided [RCV001671118] Chr7:78369521 [GRCh38]
Chr7:77998838 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+157A>G single nucleotide variant not provided [RCV001597731] Chr7:78626963 [GRCh38]
Chr7:78256279 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3706+133_3706+136del deletion not provided [RCV001637883] Chr7:78078811..78078814 [GRCh38]
Chr7:77708128..77708131 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+78_965+79dup duplication not provided [RCV001720390] Chr7:78501484..78501485 [GRCh38]
Chr7:78130801..78130802 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.754+236_754+252del deletion not provided [RCV001674129] Chr7:78521178..78521194 [GRCh38]
Chr7:78150495..78150511 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+94G>A single nucleotide variant not provided [RCV001612640]|not specified [RCV004598049] Chr7:78627026 [GRCh38]
Chr7:78256342 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3424-43T>C single nucleotide variant not provided [RCV001688904]|not specified [RCV004594525] Chr7:78125880 [GRCh38]
Chr7:77755197 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3203+156T>C single nucleotide variant not provided [RCV001649581] Chr7:78132733 [GRCh38]
Chr7:77762050 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.966-42T>G single nucleotide variant not provided [RCV001639516]|not specified [RCV004594415] Chr7:78489882 [GRCh38]
Chr7:78119199 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1104-264G>A single nucleotide variant not provided [RCV001652335] Chr7:78346307 [GRCh38]
Chr7:77975624 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+218C>T single nucleotide variant not provided [RCV001639863] Chr7:78501359 [GRCh38]
Chr7:78130676 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2846-68G>T single nucleotide variant not provided [RCV001611561]|not specified [RCV004594390] Chr7:78135274 [GRCh38]
Chr7:77764591 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+260CA[12] microsatellite not provided [RCV001649058] Chr7:78626827..78626836 [GRCh38]
Chr7:78256143..78256152 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3204-132A>G single nucleotide variant not provided [RCV001685759] Chr7:78127548 [GRCh38]
Chr7:78127548..78127549 [GRCh38]
Chr7:77756865 [GRCh37]
Chr7:77756865..77756866 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.418+204A>G single nucleotide variant not provided [RCV001656634] Chr7:79006886 [GRCh38]
Chr7:78636202 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3706+133T>C single nucleotide variant not provided [RCV001670075] Chr7:78078814 [GRCh38]
Chr7:77708131 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+170C>A single nucleotide variant not provided [RCV001643890] Chr7:78501407 [GRCh38]
Chr7:78130724 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3707-221G>A single nucleotide variant not provided [RCV001614183] Chr7:78020197 [GRCh38]
Chr7:77649514 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+260CA[15] microsatellite not provided [RCV001694373] Chr7:78626827..78626830 [GRCh38]
Chr7:78256143..78256146 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+260CA[14] microsatellite not provided [RCV001678620] Chr7:78626827..78626832 [GRCh38]
Chr7:78256143..78256148 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1045+96C>T single nucleotide variant not provided [RCV001643995] Chr7:78489665 [GRCh38]
Chr7:78118982 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3204-116G>A single nucleotide variant not provided [RCV001657209] Chr7:78127532 [GRCh38]
Chr7:77756849 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.888A>G (p.Glu296=) single nucleotide variant not provided [RCV000925209] Chr7:78501654 [GRCh38]
Chr7:78130971 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1225+197C>A single nucleotide variant not provided [RCV001766166] Chr7:78345725 [GRCh38]
Chr7:77975042 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.462T>C (p.Asp154=) single nucleotide variant not provided [RCV000916981] Chr7:78627196 [GRCh38]
Chr7:78256512 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3114C>A (p.Pro1038=) single nucleotide variant not provided [RCV000940574] Chr7:78132978 [GRCh38]
Chr7:77762295 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3918G>A (p.Lys1306=) single nucleotide variant not provided [RCV000934679] Chr7:78019765 [GRCh38]
Chr7:77649082 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.301+85161_301+85162insAATCAATTAAAAAATATATATATATATAATATATACTATATATATACAATCGATATAG insertion Schizophrenia [RCV002463547] Chr7:79367858..79367859 [GRCh38]
Chr7:78997174..78997175 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.14:g.79453831C>G single nucleotide variant not provided [RCV001709800] Chr7:79453831 [GRCh38]
Chr7:79083147 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1508A>G (p.Asn503Ser) single nucleotide variant not specified [RCV004316574] Chr7:78256482 [GRCh38]
Chr7:77885799 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77522246-78020157)x3 copy number gain not provided [RCV002472814] Chr7:77522246..78020157 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77500570-78015620)x3 copy number gain not provided [RCV001005974] Chr7:77500570..78015620 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1045+232T>C single nucleotide variant not provided [RCV001720434] Chr7:78489529 [GRCh38]
Chr7:78118846 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2404-51del deletion not provided [RCV001687451] Chr7:78168159 [GRCh38]
Chr7:77797476 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3031+293A>G single nucleotide variant not provided [RCV001596707] Chr7:78134728 [GRCh38]
Chr7:77764045 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.418+222T>C single nucleotide variant not provided [RCV001596776] Chr7:79006868 [GRCh38]
Chr7:78636184 [GRCh37]
Chr7:7q21.11
benign
NC_000007.14:g.79453800GT[10] microsatellite not provided [RCV001687906] Chr7:79453800..79453803 [GRCh38]
Chr7:79083116..79083119 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+154C>T single nucleotide variant not provided [RCV001618987] Chr7:78501423 [GRCh38]
Chr7:78130740 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.966-73dup duplication not provided [RCV001595919]|not specified [RCV004594377] Chr7:78489904..78489905 [GRCh38]
Chr7:78119221..78119222 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.539-179T>C single nucleotide variant not provided [RCV001608471] Chr7:78521824 [GRCh38]
Chr7:78151141 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3031+85C>T single nucleotide variant not provided [RCV001688326]|not specified [RCV004598106] Chr7:78134936 [GRCh38]
Chr7:77764253 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.754+110A>G single nucleotide variant not provided [RCV001685645] Chr7:78521320 [GRCh38]
Chr7:78150637 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.539-163T>G single nucleotide variant not provided [RCV001670403] Chr7:78521808 [GRCh38]
Chr7:78151125 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+78_965+80dup duplication not provided [RCV001596043] Chr7:78501484..78501485 [GRCh38]
Chr7:78130801..78130802 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2079+69G>T single nucleotide variant not provided [RCV001638420] Chr7:78201093 [GRCh38]
Chr7:77830410 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+78dup duplication not provided [RCV001720391] Chr7:78501484..78501485 [GRCh38]
Chr7:78130801..78130802 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1226-179G>A single nucleotide variant not provided [RCV001638493] Chr7:78344139 [GRCh38]
Chr7:77973456 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+259A>C single nucleotide variant not provided [RCV001720459] Chr7:78501318 [GRCh38]
Chr7:78130635 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.754+197del deletion not provided [RCV001636318] Chr7:78521233 [GRCh38]
Chr7:78150550 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2404-64dup duplication not provided [RCV001541057] Chr7:78168158..78168159 [GRCh38]
Chr7:77797475..77797476 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.966-66_966-65dup duplication not provided [RCV001691008]|not specified [RCV004594521] Chr7:78489904..78489905 [GRCh38]
Chr7:78119221..78119222 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.538+260CA[11] microsatellite not provided [RCV001649011] Chr7:78626827..78626838 [GRCh38]
Chr7:78256143..78256154 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3424-191C>G single nucleotide variant not provided [RCV001680432] Chr7:78126028 [GRCh38]
Chr7:77755345 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3568-329T>C single nucleotide variant not provided [RCV001612079] Chr7:78079414 [GRCh38]
Chr7:77708731 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.-101T>G single nucleotide variant not provided [RCV001681980] Chr7:79453421 [GRCh38]
Chr7:79082737 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2079+256C>G single nucleotide variant not provided [RCV001652798] Chr7:78200906 [GRCh38]
Chr7:77830223 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3203+193G>A single nucleotide variant not provided [RCV001682081] Chr7:78132696 [GRCh38]
Chr7:77762013 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.301+80A>T single nucleotide variant not provided [RCV001641366] Chr7:79452940 [GRCh38]
Chr7:79082256 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2270-182T>C single nucleotide variant not provided [RCV001667183] Chr7:78185852 [GRCh38]
Chr7:77815169 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1103+205A>G single nucleotide variant not provided [RCV001692640] Chr7:78368951 [GRCh38]
Chr7:77998268 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3204-82C>A single nucleotide variant not provided [RCV001679205] Chr7:78127498 [GRCh38]
Chr7:77756815 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.754+178A>T single nucleotide variant not provided [RCV001695711] Chr7:78521252 [GRCh38]
Chr7:78150569 [GRCh37]
Chr7:7q21.11
benign
GRCh37/hg19 7q21.11(chr7:78082858-78237175)x1 copy number loss not provided [RCV001258802] Chr7:78082858..78237175 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3031+259C>T single nucleotide variant not provided [RCV001539975] Chr7:78134762 [GRCh38]
Chr7:78134762..78134763 [GRCh38]
Chr7:77764079 [GRCh37]
Chr7:77764079..77764080 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.4264_4297del (p.Ala1422fs) deletion Nephrotic syndrome 15 [RCV002251028] Chr7:78019386..78019419 [GRCh38]
Chr7:77648703..77648736 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3423+237G>A single nucleotide variant not provided [RCV001671177] Chr7:78126960 [GRCh38]
Chr7:77756277 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2846-159G>T single nucleotide variant not provided [RCV001649536] Chr7:78135365 [GRCh38]
Chr7:77764682 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.419-88C>A single nucleotide variant not provided [RCV001688542]|not specified [RCV004598107] Chr7:78627327 [GRCh38]
Chr7:78256643 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3032-80A>G single nucleotide variant not provided [RCV001643912]|not specified [RCV004594432] Chr7:78133140 [GRCh38]
Chr7:77762457 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.965+92del deletion not provided [RCV001673969] Chr7:78501485 [GRCh38]
Chr7:78130802 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.754+193A>T single nucleotide variant not provided [RCV001715705] Chr7:78521237 [GRCh38]
Chr7:78150554 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1103+281T>C single nucleotide variant not provided [RCV001538120] Chr7:78368875 [GRCh38]
Chr7:77998192 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.418+294C>T single nucleotide variant not provided [RCV001759152] Chr7:79006796 [GRCh38]
Chr7:78636112 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1104-32C>T single nucleotide variant not provided [RCV001759205] Chr7:78346075 [GRCh38]
Chr7:77975392 [GRCh37]
Chr7:7q21.11
likely benign
NC_000007.14:g.79453745G>T single nucleotide variant not provided [RCV001769669] Chr7:79453745 [GRCh38]
Chr7:79083061 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2047+129_2047+132del deletion not provided [RCV001767935] Chr7:78255811..78255814 [GRCh38]
Chr7:77885128..77885131 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.538+260CA[16] microsatellite not provided [RCV001774878] Chr7:78626827..78626828 [GRCh38]
Chr7:78256143..78256144 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3706+125TA[4] microsatellite not provided [RCV001774912] Chr7:78078813..78078814 [GRCh38]
Chr7:77708130..77708131 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3031+233C>A single nucleotide variant not provided [RCV001774913] Chr7:78134788 [GRCh38]
Chr7:77764105 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3203+270A>G single nucleotide variant not provided [RCV001769635] Chr7:78132619 [GRCh38]
Chr7:77761936 [GRCh37]
Chr7:7q21.11
likely benign
NC_000007.14:g.79453800GT[13] microsatellite not provided [RCV001774875] Chr7:79453799..79453800 [GRCh38]
Chr7:79083115..79083116 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2269+215T>G single nucleotide variant not provided [RCV001759113] Chr7:78194659 [GRCh38]
Chr7:77823976 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.*99G>A single nucleotide variant not provided [RCV001759153] Chr7:78019216 [GRCh38]
Chr7:77648533 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1226-24T>C single nucleotide variant not provided [RCV001759207] Chr7:78343984 [GRCh38]
Chr7:77973301 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3567+237T>G single nucleotide variant not provided [RCV001767993] Chr7:78125457 [GRCh38]
Chr7:77754774 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2269C>T (p.Gln757Ter) single nucleotide variant Nephrotic syndrome 15 [RCV001783629] Chr7:78194874 [GRCh38]
Chr7:77824191 [GRCh37]
Chr7:7q21.11
pathogenic
NM_012301.4(MAGI2):c.539-173T>C single nucleotide variant not provided [RCV001774994] Chr7:78521818 [GRCh38]
Chr7:78151135 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1104-91C>T single nucleotide variant not provided [RCV001759128] Chr7:78346134 [GRCh38]
Chr7:77975451 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3707-143_3707-138dup duplication not provided [RCV001759197] Chr7:78020113..78020114 [GRCh38]
Chr7:77649430..77649431 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1225+164T>C single nucleotide variant not provided [RCV001759384] Chr7:78345758 [GRCh38]
Chr7:77975075 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2403+140del deletion not provided [RCV001753042] Chr7:78177871 [GRCh38]
Chr7:77807188 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.-27G>A single nucleotide variant not provided [RCV001766079] Chr7:79453347 [GRCh38]
Chr7:79082663 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.965+266_965+270del deletion not provided [RCV001767995] Chr7:78501307..78501311 [GRCh38]
Chr7:78130624..78130628 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.538+260CA[18] microsatellite not provided [RCV001753184] Chr7:78626826..78626827 [GRCh38]
Chr7:78256142..78256143 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.*66G>C single nucleotide variant not provided [RCV001847420] Chr7:78019249 [GRCh38]
Chr7:77648566 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4274G>T (p.Arg1425Leu) single nucleotide variant not provided [RCV001969085] Chr7:78019409 [GRCh38]
Chr7:77648726 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77522245-78019211)x3 copy number gain not provided [RCV001829062] Chr7:77522245..78019211 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1717C>G (p.Pro573Ala) single nucleotide variant Nephrotic syndrome 15 [RCV002478082]|not provided [RCV002041317]|not specified [RCV004038731] Chr7:78256273 [GRCh38]
Chr7:77885590 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089) copy number loss not specified [RCV002053699] Chr7:77310644..84461089 [GRCh37]
Chr7:7q11.23-21.11
pathogenic
GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137) copy number gain not specified [RCV002053701] Chr7:77821356..93340137 [GRCh37]
Chr7:7q21.11-21.3
pathogenic
GRCh37/hg19 7q21.11(chr7:78430626-82605557) copy number loss not specified [RCV002053703] Chr7:78430626..82605557 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7q21.11(chr7:77522245-78019211) copy number gain not specified [RCV002053700] Chr7:77522245..78019211 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.14:g.(75058300_?)_(?_79083658)del deletion Distal 7q11.23 microdeletion syndrome [RCV001839073] Chr7:75058300..79083658 [GRCh38]
Chr7:7q11.23-21.11
pathogenic
NM_012301.4(MAGI2):c.4207G>T (p.Glu1403Ter) single nucleotide variant not provided [RCV002021216] Chr7:78019476 [GRCh38]
Chr7:77648793 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3079_3096dup (p.Met1027_Pro1032dup) duplication Nephrotic syndrome 15 [RCV002486797]|not provided [RCV002036735] Chr7:78132995..78132996 [GRCh38]
Chr7:77762312..77762313 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.743T>A (p.Val248Glu) single nucleotide variant Nephrotic syndrome 15 [RCV002484458]|not provided [RCV001920324]|not specified [RCV004043305] Chr7:78521441 [GRCh38]
Chr7:78150758 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3701A>C (p.Glu1234Ala) single nucleotide variant not provided [RCV001931915] Chr7:78078952 [GRCh38]
Chr7:77708269 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2723C>T (p.Pro908Leu) single nucleotide variant not provided [RCV001870063] Chr7:78160147 [GRCh38]
Chr7:77789464 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.948C>T (p.Gly316=) single nucleotide variant not provided [RCV002126904] Chr7:78501594 [GRCh38]
Chr7:78130911 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3706+12G>A single nucleotide variant Nephrotic syndrome 15 [RCV002480989]|not provided [RCV002125950] Chr7:78078935 [GRCh38]
Chr7:77708252 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4131C>G (p.Leu1377=) single nucleotide variant not provided [RCV002195851] Chr7:78019552 [GRCh38]
Chr7:77648869 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.147del (p.Gly50fs) deletion Nephrotic syndrome 15 [RCV002244173] Chr7:79453174 [GRCh38]
Chr7:79082490 [GRCh37]
Chr7:7q21.11
likely pathogenic
NM_012301.4(MAGI2):c.2846-16G>A single nucleotide variant not provided [RCV002163471] Chr7:78135222 [GRCh38]
Chr7:77764539 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3285G>A (p.Pro1095=) single nucleotide variant not provided [RCV002101137] Chr7:78127335 [GRCh38]
Chr7:77756652 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2270-16C>T single nucleotide variant not provided [RCV002220526] Chr7:78185686 [GRCh38]
Chr7:77815003 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3804A>T (p.Ser1268=) single nucleotide variant not provided [RCV003110806] Chr7:78019879 [GRCh38]
Chr7:77649196 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1332C>G (p.Asp444Glu) single nucleotide variant not provided [RCV003112619] Chr7:78343854 [GRCh38]
Chr7:77973171 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.13:g.(?_77530028)_(79082636_?)del deletion not provided [RCV003116585] Chr7:77530028..79082636 [GRCh37]
Chr7:7q21.11
pathogenic
NC_000007.13:g.(?_77648632)_(77998550_?)dup duplication not provided [RCV003116586] Chr7:77648632..77998550 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4255C>G (p.Pro1419Ala) single nucleotide variant Nephrotic syndrome 15 [RCV002488646]|not provided [RCV002259526]|not specified [RCV004641948] Chr7:78019428 [GRCh38]
Chr7:77648745 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2483T>C (p.Val828Ala) single nucleotide variant not provided [RCV003230235] Chr7:78168029 [GRCh38]
Chr7:77797346 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2616C>G (p.Asn872Lys) single nucleotide variant not provided [RCV002269469] Chr7:78160254 [GRCh38]
Chr7:77789571 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1225+448C>A single nucleotide variant not provided [RCV002263442] Chr7:78345474 [GRCh38]
Chr7:77974791 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2161C>A (p.Pro721Thr) single nucleotide variant not specified [RCV004327512] Chr7:78194982 [GRCh38]
Chr7:77824299 [GRCh37]
Chr7:7q21.11
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_012301.4(MAGI2):c.643C>T (p.Arg215Trp) single nucleotide variant not specified [RCV004294719] Chr7:78521541 [GRCh38]
Chr7:78150858 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3707-17G>A single nucleotide variant not provided [RCV002727260] Chr7:78019993 [GRCh38]
Chr7:77649310 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3221A>G (p.Lys1074Arg) single nucleotide variant not specified [RCV004159609] Chr7:78127399 [GRCh38]
Chr7:77756716 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3919A>C (p.Lys1307Gln) single nucleotide variant Nephrotic syndrome 15 [RCV002470230] Chr7:78019764 [GRCh38]
Chr7:77649081 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3123G>A (p.Gln1041=) single nucleotide variant not provided [RCV002467269] Chr7:78132969 [GRCh38]
Chr7:77762286 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2126C>T (p.Ser709Phe) single nucleotide variant not provided [RCV002904290] Chr7:78195017 [GRCh38]
Chr7:77824334 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4232G>A (p.Gly1411Asp) single nucleotide variant not provided [RCV002751590] Chr7:78019451 [GRCh38]
Chr7:77648768 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1213C>G (p.Pro405Ala) single nucleotide variant not provided [RCV002726294] Chr7:78345934 [GRCh38]
Chr7:77975251 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4115C>T (p.Ala1372Val) single nucleotide variant not specified [RCV004164177] Chr7:78019568 [GRCh38]
Chr7:77648885 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3002G>A (p.Ser1001Asn) single nucleotide variant not provided [RCV002994126] Chr7:78135050 [GRCh38]
Chr7:77764367 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2425G>T (p.Ala809Ser) single nucleotide variant not provided [RCV002994216]|not specified [RCV004065275] Chr7:78168087 [GRCh38]
Chr7:77797404 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2270-18C>T single nucleotide variant not provided [RCV002776414] Chr7:78185688 [GRCh38]
Chr7:77815005 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4068C>T (p.Asp1356=) single nucleotide variant not provided [RCV002614945] Chr7:78019615 [GRCh38]
Chr7:77648932 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3424-14C>T single nucleotide variant not provided [RCV002615998] Chr7:78125851 [GRCh38]
Chr7:77755168 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3204-18C>T single nucleotide variant not provided [RCV002775989] Chr7:78127434 [GRCh38]
Chr7:77756751 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.165G>A (p.Glu55=) single nucleotide variant not provided [RCV002975273] Chr7:79453156 [GRCh38]
Chr7:79082472 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.628A>T (p.Ser210Cys) single nucleotide variant not specified [RCV004102470] Chr7:78521556 [GRCh38]
Chr7:78150873 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1743G>A (p.Thr581=) single nucleotide variant not provided [RCV003076662] Chr7:78256247 [GRCh38]
Chr7:77885564 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3204-67C>G single nucleotide variant not provided [RCV002461628] Chr7:78127483 [GRCh38]
Chr7:77756800 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3855T>G (p.Thr1285=) single nucleotide variant MAGI2-related disorder [RCV003963609]|not provided [RCV003075680] Chr7:78019828 [GRCh38]
Chr7:77649145 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1658G>A (p.Arg553Gln) single nucleotide variant not provided [RCV002927859] Chr7:78256332 [GRCh38]
Chr7:77885649 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4023C>T (p.Gly1341=) single nucleotide variant not provided [RCV002796422] Chr7:78019660 [GRCh38]
Chr7:77648977 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4055T>G (p.Leu1352Arg) single nucleotide variant not specified [RCV004106385] Chr7:78019628 [GRCh38]
Chr7:77648945 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3790C>T (p.Pro1264Ser) single nucleotide variant not specified [RCV004093469] Chr7:78019893 [GRCh38]
Chr7:77649210 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2677T>G (p.Tyr893Asp) single nucleotide variant not specified [RCV004135394] Chr7:78160193 [GRCh38]
Chr7:77789510 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2380G>A (p.Gly794Arg) single nucleotide variant not specified [RCV004119282] Chr7:78178034 [GRCh38]
Chr7:77807351 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3797C>T (p.Ser1266Phe) single nucleotide variant not specified [RCV004124704] Chr7:78019886 [GRCh38]
Chr7:77649203 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3981G>A (p.Arg1327=) single nucleotide variant not provided [RCV002820824] Chr7:78019702 [GRCh38]
Chr7:77649019 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4190G>A (p.Ser1397Asn) single nucleotide variant not specified [RCV004194948] Chr7:78019493 [GRCh38]
Chr7:77648810 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3707-9C>T single nucleotide variant not provided [RCV003036114] Chr7:78019985 [GRCh38]
Chr7:77649302 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3424-19T>C single nucleotide variant not provided [RCV002691204] Chr7:78125856 [GRCh38]
Chr7:77755173 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1929C>A (p.Gly643=) single nucleotide variant not provided [RCV002796423] Chr7:78256061 [GRCh38]
Chr7:77885378 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1308T>C (p.Phe436=) single nucleotide variant not provided [RCV002591443] Chr7:78343878 [GRCh38]
Chr7:77973195 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4221T>C (p.Gly1407=) single nucleotide variant not provided [RCV002640131] Chr7:78019462 [GRCh38]
Chr7:77648779 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.69C>A (p.Asn23Lys) single nucleotide variant not specified [RCV004161963] Chr7:79453252 [GRCh38]
Chr7:79082568 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2516G>A (p.Arg839His) single nucleotide variant not specified [RCV004226817] Chr7:78167996 [GRCh38]
Chr7:77797313 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3357_3358delinsGG (p.Leu1120Val) indel not provided [RCV003019776] Chr7:78127262..78127263 [GRCh38]
Chr7:77756579..77756580 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.516C>T (p.Leu172=) single nucleotide variant not provided [RCV002639619] Chr7:78627142 [GRCh38]
Chr7:78256458 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2779G>C (p.Glu927Gln) single nucleotide variant not provided [RCV003079754] Chr7:78160091 [GRCh38]
Chr7:77789408 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1371G>A (p.Pro457=) single nucleotide variant not provided [RCV002621233] Chr7:78343815 [GRCh38]
Chr7:77973132 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2312-20T>C single nucleotide variant not provided [RCV002575474] Chr7:78178122 [GRCh38]
Chr7:77807439 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.820G>A (p.Ala274Thr) single nucleotide variant not provided [RCV003111652]|not specified [RCV004087744] Chr7:78501722 [GRCh38]
Chr7:78131039 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1409-6T>C single nucleotide variant not provided [RCV002828614] Chr7:78256587 [GRCh38]
Chr7:77885904 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3014G>A (p.Arg1005His) single nucleotide variant not provided [RCV002742017] Chr7:78135038 [GRCh38]
Chr7:77764355 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2476G>C (p.Val826Leu) single nucleotide variant not provided [RCV002741102] Chr7:78168036 [GRCh38]
Chr7:77797353 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3047C>T (p.Thr1016Ile) single nucleotide variant not specified [RCV004205992] Chr7:78133045 [GRCh38]
Chr7:77762362 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3051G>A (p.Ser1017=) single nucleotide variant not provided [RCV002623470] Chr7:78133041 [GRCh38]
Chr7:77762358 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4123T>C (p.Ser1375Pro) single nucleotide variant not provided [RCV003022373] Chr7:78019560 [GRCh38]
Chr7:77648877 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3441T>A (p.Thr1147=) single nucleotide variant not provided [RCV003082154] Chr7:78125820 [GRCh38]
Chr7:77755137 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1752G>A (p.Pro584=) single nucleotide variant not provided [RCV003084723] Chr7:78256238 [GRCh38]
Chr7:77885555 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1552G>T (p.Asp518Tyr) single nucleotide variant not specified [RCV004170666] Chr7:78256438 [GRCh38]
Chr7:77885755 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.549C>T (p.Tyr183=) single nucleotide variant not provided [RCV002596017] Chr7:78521635 [GRCh38]
Chr7:78150952 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1565G>C (p.Ser522Thr) single nucleotide variant not provided [RCV003059039] Chr7:78256425 [GRCh38]
Chr7:77885742 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1390G>C (p.Asp464His) single nucleotide variant not specified [RCV004124193] Chr7:78343796 [GRCh38]
Chr7:77973113 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3781G>C (p.Gly1261Arg) single nucleotide variant not specified [RCV004137604] Chr7:78019902 [GRCh38]
Chr7:77649219 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2135C>A (p.Ala712Asp) single nucleotide variant not provided [RCV002676506] Chr7:78195008 [GRCh38]
Chr7:77824325 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.302-9dup duplication MAGI2-related disorder [RCV003906466]|not provided [RCV003065194] Chr7:79007214..79007215 [GRCh38]
Chr7:78636530..78636531 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.1332C>T (p.Asp444=) single nucleotide variant not provided [RCV003087116] Chr7:78343854 [GRCh38]
Chr7:77973171 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2502C>T (p.Ala834=) single nucleotide variant not provided [RCV003009380] Chr7:78168010 [GRCh38]
Chr7:77797327 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2090G>A (p.Arg697Gln) single nucleotide variant not provided [RCV003086692] Chr7:78195053 [GRCh38]
Chr7:77824370 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.774C>A (p.Asp258Glu) single nucleotide variant not provided [RCV002671375] Chr7:78501768 [GRCh38]
Chr7:78131085 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4088C>A (p.Ala1363Glu) single nucleotide variant not specified [RCV004108374] Chr7:78019595 [GRCh38]
Chr7:77648912 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1223G>A (p.Arg408Gln) single nucleotide variant not specified [RCV004120973] Chr7:78345924 [GRCh38]
Chr7:77975241 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1268C>G (p.Thr423Arg) single nucleotide variant not provided [RCV002856976] Chr7:78343918 [GRCh38]
Chr7:77973235 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1690C>G (p.Arg564Gly) single nucleotide variant not provided [RCV002671233] Chr7:78256300 [GRCh38]
Chr7:77885617 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2120G>T (p.Ser707Ile) single nucleotide variant not provided [RCV004725584]|not specified [RCV004092285] Chr7:78195023 [GRCh38]
Chr7:77824340 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.648G>A (p.Lys216=) single nucleotide variant not provided [RCV002601282] Chr7:78521536 [GRCh38]
Chr7:78150853 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3379C>A (p.Pro1127Thr) single nucleotide variant not provided [RCV002601355] Chr7:78127241 [GRCh38]
Chr7:77756558 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1631A>G (p.Tyr544Cys) single nucleotide variant not specified [RCV004075082] Chr7:78256359 [GRCh38]
Chr7:77885676 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1738G>A (p.Gly580Ser) single nucleotide variant not provided [RCV002578404] Chr7:78256252 [GRCh38]
Chr7:77885569 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2694C>T (p.His898=) single nucleotide variant not provided [RCV003088959] Chr7:78160176 [GRCh38]
Chr7:77789493 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3204-18C>G single nucleotide variant not provided [RCV002576885] Chr7:78127434 [GRCh38]
Chr7:77756751 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.686T>C (p.Ile229Thr) single nucleotide variant not specified [RCV004123492] Chr7:78521498 [GRCh38]
Chr7:78150815 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3707-9C>A single nucleotide variant not provided [RCV002898732] Chr7:78019985 [GRCh38]
Chr7:77649302 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2520T>C (p.Tyr840=) single nucleotide variant not provided [RCV003087444] Chr7:78167992 [GRCh38]
Chr7:77797309 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3313G>T (p.Asp1105Tyr) single nucleotide variant not provided [RCV002857831] Chr7:78127307 [GRCh38]
Chr7:77756624 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3780C>G (p.Asp1260Glu) single nucleotide variant not provided [RCV002720441] Chr7:78019903 [GRCh38]
Chr7:77649220 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1856T>C (p.Ile619Thr) single nucleotide variant not specified [RCV004114457] Chr7:78256134 [GRCh38]
Chr7:77885451 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4174C>T (p.Pro1392Ser) single nucleotide variant not specified [RCV004224836] Chr7:78019509 [GRCh38]
Chr7:77648826 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4177GGC[5] (p.Gly1396_Ser1397insGly) microsatellite not provided [RCV002658273] Chr7:78019494..78019495 [GRCh38]
Chr7:77648811..77648812 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2603C>G (p.Pro868Arg) single nucleotide variant not provided [RCV002603332] Chr7:78160267 [GRCh38]
Chr7:77789584 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.824C>T (p.Pro275Leu) single nucleotide variant not provided [RCV003049872]|not specified [RCV004068740] Chr7:78501718 [GRCh38]
Chr7:78131035 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1158G>A (p.Lys386=) single nucleotide variant MAGI2-related disorder [RCV003936532]|not provided [RCV003072198] Chr7:78345989 [GRCh38]
Chr7:77975306 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1845C>T (p.Phe615=) single nucleotide variant not provided [RCV002607149] Chr7:78256145 [GRCh38]
Chr7:77885462 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3687G>A (p.Thr1229=) single nucleotide variant not provided [RCV003073491] Chr7:78078966 [GRCh38]
Chr7:77708283 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4183G>A (p.Gly1395Ser) single nucleotide variant not provided [RCV002603435] Chr7:78019500 [GRCh38]
Chr7:77648817 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1492A>G (p.Ile498Val) single nucleotide variant not provided [RCV002609305]|not specified [RCV004065813] Chr7:78256498 [GRCh38]
Chr7:77885815 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3879C>T (p.Asp1293=) single nucleotide variant not provided [RCV002587700] Chr7:78019804 [GRCh38]
Chr7:77649121 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1104-3del deletion not provided [RCV003223254] Chr7:78346046 [GRCh38]
Chr7:77975363 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2344C>T (p.Arg782Trp) single nucleotide variant not specified [RCV004249357] Chr7:78178070 [GRCh38]
Chr7:77807387 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.818C>T (p.Pro273Leu) single nucleotide variant not specified [RCV004270914] Chr7:78501724 [GRCh38]
Chr7:78131041 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.539-32942G>A single nucleotide variant not provided [RCV003223255] Chr7:78554587 [GRCh38]
Chr7:78183904 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2297G>A (p.Arg766Gln) single nucleotide variant not specified [RCV004255228] Chr7:78185643 [GRCh38]
Chr7:77814960 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1921T>A (p.Cys641Ser) single nucleotide variant not specified [RCV004265051] Chr7:78256069 [GRCh38]
Chr7:77885386 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1810A>T (p.Met604Leu) single nucleotide variant not specified [RCV004328603] Chr7:78256180 [GRCh38]
Chr7:77885497 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3709G>T (p.Glu1237Ter) single nucleotide variant not specified [RCV004413664] Chr7:78019974 [GRCh38]
Chr7:77649291 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.703G>A (p.Glu235Lys) single nucleotide variant not specified [RCV004413668] Chr7:78521481 [GRCh38]
Chr7:78150798 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.70C>A (p.Pro24Thr) single nucleotide variant not specified [RCV004413669] Chr7:79453251 [GRCh38]
Chr7:79082567 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.539A>G (p.Asp180Gly) single nucleotide variant not specified [RCV004302731] Chr7:78521645 [GRCh38]
Chr7:78150962 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4259G>A (p.Gly1420Glu) single nucleotide variant not specified [RCV004358766] Chr7:78019424 [GRCh38]
Chr7:77648741 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4154C>T (p.Ala1385Val) single nucleotide variant not specified [RCV004354132] Chr7:78019529 [GRCh38]
Chr7:77648846 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2100T>G (p.Asn700Lys) single nucleotide variant not specified [RCV004359254] Chr7:78195043 [GRCh38]
Chr7:77824360 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4150G>T (p.Gly1384Trp) single nucleotide variant not specified [RCV004351322] Chr7:78019533 [GRCh38]
Chr7:77648850 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.728A>G (p.Asn243Ser) single nucleotide variant not specified [RCV004335177] Chr7:78521456 [GRCh38]
Chr7:78150773 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4148C>T (p.Pro1383Leu) single nucleotide variant not specified [RCV004350031] Chr7:78019535 [GRCh38]
Chr7:77648852 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4169C>A (p.Ala1390Asp) single nucleotide variant not specified [RCV004355074] Chr7:78019514 [GRCh38]
Chr7:77648831 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.218C>T (p.Pro73Leu) single nucleotide variant not specified [RCV004358205] Chr7:79453103 [GRCh38]
Chr7:79082419 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2480A>T (p.Tyr827Phe) single nucleotide variant not provided [RCV003571503] Chr7:78168032 [GRCh38]
Chr7:77797349 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.418+11T>G single nucleotide variant not provided [RCV003570125] Chr7:79007079 [GRCh38]
Chr7:78636395 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.588G>A (p.Leu196=) single nucleotide variant not provided [RCV003872816] Chr7:78521596 [GRCh38]
Chr7:78150913 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.301+13G>T single nucleotide variant not provided [RCV003825299] Chr7:79453007 [GRCh38]
Chr7:79082323 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.4029C>G (p.Pro1343=) single nucleotide variant not provided [RCV003433916] Chr7:78019654 [GRCh38]
Chr7:77648971 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2695G>C (p.Ala899Pro) single nucleotide variant MAGI2-related disorder [RCV003421160] Chr7:78160175 [GRCh38]
Chr7:77789492 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2380G>T (p.Gly794Trp) single nucleotide variant MAGI2-related disorder [RCV003405984] Chr7:78178034 [GRCh38]
Chr7:77807351 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2722C>A (p.Pro908Thr) single nucleotide variant MAGI2-related disorder [RCV003399568] Chr7:78160148 [GRCh38]
Chr7:77789465 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3164C>A (p.Ala1055Glu) single nucleotide variant not provided [RCV003544323] Chr7:78132928 [GRCh38]
Chr7:77762245 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3706+12G>T single nucleotide variant not provided [RCV003713343] Chr7:78078935 [GRCh38]
Chr7:77708252 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.754+18T>C single nucleotide variant not provided [RCV003826198] Chr7:78521412 [GRCh38]
Chr7:78150729 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3951G>A (p.Ser1317=) single nucleotide variant MAGI2-related disorder [RCV003946726]|not provided [RCV003573450] Chr7:78019732 [GRCh38]
Chr7:77649049 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2433C>T (p.Gly811=) single nucleotide variant not provided [RCV003664509] Chr7:78168079 [GRCh38]
Chr7:77797396 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1296C>G (p.Ser432Arg) single nucleotide variant not specified [RCV004413654] Chr7:78343890 [GRCh38]
Chr7:77973207 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1585A>G (p.Ile529Val) single nucleotide variant not specified [RCV004413656] Chr7:78256405 [GRCh38]
Chr7:77885722 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1756G>A (p.Val586Ile) single nucleotide variant not specified [RCV004413657] Chr7:78256234 [GRCh38]
Chr7:77885551 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2392C>A (p.Pro798Thr) single nucleotide variant not specified [RCV004413660] Chr7:78178022 [GRCh38]
Chr7:77807339 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2894G>A (p.Arg965His) single nucleotide variant not specified [RCV004413661] Chr7:78135158 [GRCh38]
Chr7:77764475 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4192G>A (p.Gly1398Ser) single nucleotide variant not specified [RCV004413665] Chr7:78019491 [GRCh38]
Chr7:77648808 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2311+18C>G single nucleotide variant not provided [RCV003659398] Chr7:78185611 [GRCh38]
Chr7:77814928 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1515G>A (p.Val505=) single nucleotide variant not provided [RCV003726327] Chr7:78256475 [GRCh38]
Chr7:77885792 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3786C>G (p.Leu1262=) single nucleotide variant MAGI2-related disorder [RCV003956470]|not provided [RCV003701468] Chr7:78019897 [GRCh38]
Chr7:77649214 [GRCh37]
Chr7:7q21.11
benign|likely benign
NM_012301.4(MAGI2):c.564G>A (p.Pro188=) single nucleotide variant MAGI2-related disorder [RCV003939093]|not provided [RCV003558877] Chr7:78521620 [GRCh38]
Chr7:78150937 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3039C>T (p.Asn1013=) single nucleotide variant not provided [RCV003811142] Chr7:78133053 [GRCh38]
Chr7:77762370 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3723_3736del (p.Trp1241fs) deletion not provided [RCV003837861] Chr7:78019947..78019960 [GRCh38]
Chr7:77649264..77649277 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3116T>C (p.Leu1039Pro) single nucleotide variant not specified [RCV004413662] Chr7:78132976 [GRCh38]
Chr7:77762293 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4357G>A (p.Ala1453Thr) single nucleotide variant not specified [RCV004413666] Chr7:78019326 [GRCh38]
Chr7:77648643 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1914T>G (p.Pro638=) single nucleotide variant MAGI2-related disorder [RCV003909114]|not provided [RCV003725472] Chr7:78256076 [GRCh38]
Chr7:77885393 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2079+8G>A single nucleotide variant not provided [RCV003700935] Chr7:78201154 [GRCh38]
Chr7:77830471 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.363G>T (p.Val121=) single nucleotide variant MAGI2-related disorder [RCV003939161]|not provided [RCV003717080] Chr7:79007145 [GRCh38]
Chr7:78636461 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.302-9del deletion not provided [RCV003833265] Chr7:79007215 [GRCh38]
Chr7:78636531 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3567+14C>A single nucleotide variant not provided [RCV003822955] Chr7:78125680 [GRCh38]
Chr7:77754997 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.4216G>A (p.Ala1406Thr) single nucleotide variant not provided [RCV003733570] Chr7:78019467 [GRCh38]
Chr7:77648784 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1409-8dup duplication not provided [RCV003821260] Chr7:78256588..78256589 [GRCh38]
Chr7:77885905..77885906 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.4305G>A (p.Lys1435=) single nucleotide variant not provided [RCV003729683] Chr7:78019378 [GRCh38]
Chr7:77648695 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2846-18C>A single nucleotide variant not provided [RCV003872486] Chr7:78135224 [GRCh38]
Chr7:77764541 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.2238C>T (p.Tyr746=) single nucleotide variant MAGI2-related disorder [RCV003966593]|not provided [RCV003719507] Chr7:78194905 [GRCh38]
Chr7:77824222 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2704A>G (p.Ser902Gly) single nucleotide variant not provided [RCV003867639] Chr7:78160166 [GRCh38]
Chr7:77789483 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.418+11T>C single nucleotide variant not provided [RCV003872289] Chr7:79007079 [GRCh38]
Chr7:78636395 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2541C>T (p.His847=) single nucleotide variant not provided [RCV003721892] Chr7:78167971 [GRCh38]
Chr7:77797288 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3195C>T (p.His1065=) single nucleotide variant not provided [RCV003730035] Chr7:78132897 [GRCh38]
Chr7:77762214 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.1365G>C (p.Val455=) single nucleotide variant not provided [RCV003733884] Chr7:78343821 [GRCh38]
Chr7:77973138 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2047+17C>T single nucleotide variant not provided [RCV003567176] Chr7:78255926 [GRCh38]
Chr7:77885243 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2597-6_2597-5del deletion not provided [RCV003553833] Chr7:78160278..78160279 [GRCh38]
Chr7:77789595..77789596 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.159_174del (p.Tyr54fs) deletion not provided [RCV003865122] Chr7:79453147..79453162 [GRCh38]
Chr7:79082463..79082478 [GRCh37]
Chr7:7q21.11
pathogenic
NM_012301.4(MAGI2):c.4146C>G (p.Gly1382=) single nucleotide variant not provided [RCV003730815] Chr7:78019537 [GRCh38]
Chr7:77648854 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3706+4C>T single nucleotide variant MAGI2-related disorder [RCV003962135] Chr7:78078943 [GRCh38]
Chr7:77708260 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3548T>C (p.Ile1183Thr) single nucleotide variant not specified [RCV004413663] Chr7:78125713 [GRCh38]
Chr7:77755030 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.690G>T (p.Glu230Asp) single nucleotide variant not specified [RCV004413667] Chr7:78521494 [GRCh38]
Chr7:78150811 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2235C>T (p.Leu745=) single nucleotide variant MAGI2-related disorder [RCV003976724] Chr7:78194908 [GRCh38]
Chr7:77824225 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2079+9G>A single nucleotide variant MAGI2-related disorder [RCV003961709] Chr7:78201153 [GRCh38]
Chr7:77830470 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3032-5C>T single nucleotide variant MAGI2-related disorder [RCV003937376] Chr7:78133065 [GRCh38]
Chr7:77762382 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2404-5T>C single nucleotide variant MAGI2-related disorder [RCV003952072] Chr7:78168113 [GRCh38]
Chr7:77797430 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2187T>C (p.Pro729=) single nucleotide variant MAGI2-related disorder [RCV003896723] Chr7:78194956 [GRCh38]
Chr7:77824273 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3720C>T (p.Pro1240=) single nucleotide variant MAGI2-related disorder [RCV003894076] Chr7:78019963 [GRCh38]
Chr7:77649280 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.2595A>G (p.Gly865=) single nucleotide variant MAGI2-related disorder [RCV003901969] Chr7:78167917 [GRCh38]
Chr7:77797234 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.1141C>G (p.Leu381Val) single nucleotide variant not specified [RCV004413652] Chr7:78346006 [GRCh38]
Chr7:77975323 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1243C>T (p.Arg415Trp) single nucleotide variant not specified [RCV004413653] Chr7:78343943 [GRCh38]
Chr7:77973260 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.3032-3C>T single nucleotide variant MAGI2-related disorder [RCV003904663] Chr7:78133063 [GRCh38]
Chr7:77762380 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.3251G>A (p.Arg1084Gln) single nucleotide variant not specified [RCV004636422] Chr7:78127369 [GRCh38]
Chr7:77756686 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4108C>G (p.Arg1370Gly) single nucleotide variant not specified [RCV004640577] Chr7:78019575 [GRCh38]
Chr7:77648892 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.4162G>C (p.Ala1388Pro) single nucleotide variant not specified [RCV004640579] Chr7:78019521 [GRCh38]
Chr7:77648838 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.25A>G (p.Ser9Gly) single nucleotide variant not specified [RCV004640581] Chr7:79453296 [GRCh38]
Chr7:79082612 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1532C>A (p.Pro511His) single nucleotide variant not specified [RCV004640582] Chr7:78256458 [GRCh38]
Chr7:77885775 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2845+1802C>T single nucleotide variant not specified [RCV004594002] Chr7:78158223 [GRCh38]
Chr7:77787540 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.539-32984G>C single nucleotide variant not specified [RCV004595447] Chr7:78554629 [GRCh38]
Chr7:78183946 [GRCh37]
Chr7:7q21.11
benign
NM_012301.4(MAGI2):c.3866A>C (p.Lys1289Thr) single nucleotide variant not specified [RCV004640578] Chr7:78019817 [GRCh38]
Chr7:77649134 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2636T>C (p.Val879Ala) single nucleotide variant not specified [RCV004640583] Chr7:78160234 [GRCh38]
Chr7:77789551 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.2345G>A (p.Arg782Gln) single nucleotide variant not specified [RCV004640576] Chr7:78178069 [GRCh38]
Chr7:77807386 [GRCh37]
Chr7:7q21.11
uncertain significance
NC_000007.13:g.(?_78636386)_(79082636_?)dup duplication not provided [RCV004578547] Chr7:78636386..79082636 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1940T>C (p.Val647Ala) single nucleotide variant not provided [RCV004729342] Chr7:78256050 [GRCh38]
Chr7:77885367 [GRCh37]
Chr7:7q21.11
uncertain significance
NM_012301.4(MAGI2):c.1095T>C (p.Tyr365=) single nucleotide variant MAGI2-related disorder [RCV004747012] Chr7:78369164 [GRCh38]
Chr7:77998481 [GRCh37]
Chr7:7q21.11
likely benign
NM_012301.4(MAGI2):c.534T>C (p.Tyr178=) single nucleotide variant MAGI2-related disorder [RCV004745757] Chr7:78627124 [GRCh38]
Chr7:78256440 [GRCh37]
Chr7:7q21.11
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR101-2hsa-miR-101-3pOncomiRDBexternal_infoNANA20956939
MIR101-1hsa-miR-101-3pOncomiRDBexternal_infoNANA20956939

Predicted Target Of
Summary Value
Count of predictions:2938
Count of miRNA genes:1033
Interacting mature miRNAs:1265
Transcripts:ENST00000354212, ENST00000419488, ENST00000517762, ENST00000519748, ENST00000520379, ENST00000522342, ENST00000522391, ENST00000524268, ENST00000524316, ENST00000535697, ENST00000536571
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
407114562GWAS763538_Hprotein measurement QTL GWAS763538 (human)2e-09protein measurement77897012978970130Human
407341376GWAS990352_Hinsomnia QTL GWAS990352 (human)8e-11insomnia77851463978514640Human
406955590GWAS604566_Hunipolar depression QTL GWAS604566 (human)9e-09unipolar depression77887044178870442Human
407247950GWAS896926_Hnon-small cell lung carcinoma QTL GWAS896926 (human)0.0000001non-small cell lung carcinoma77883681478836815Human
407247181GWAS896157_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS896157 (human)3e-08aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurementblood high density lipoprotein cholesterol level (CMO:0000052)77819774778197749Human
407010387GWAS659363_HAbnormality of refraction QTL GWAS659363 (human)3e-17Abnormality of refraction77844631778446318Human
407016795GWAS665771_Hbody height QTL GWAS665771 (human)9e-09body height (VT:0001253)body height (CMO:0000106)77910611079106111Human
407118686GWAS767662_Hsmoking status measurement QTL GWAS767662 (human)1e-09smoking status measurement77814266678142667Human
407258717GWAS907693_Hdiet measurement QTL GWAS907693 (human)1e-08diet measurementfood intake measurement (CMO:0000772)77814437678144377Human
407118687GWAS767663_Hsmoking status measurement QTL GWAS767663 (human)2e-08smoking status measurement77851026478510265Human
407280216GWAS929192_Htaste liking measurement QTL GWAS929192 (human)3e-10taste liking measurement77817741878177419Human
407206747GWAS855723_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS855723 (human)1e-08attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement77876051778760518Human
407206746GWAS855722_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS855722 (human)8e-14attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement77813269678132697Human
406914910GWAS563886_Hfacial morphology QTL GWAS563886 (human)0.000003facial morphology trait (VT:0003743)77847879978478800Human
407190368GWAS839344_Hserum metabolite measurement QTL GWAS839344 (human)0.000001serum metabolite measurement77883433278834333Human
407327842GWAS976818_Hdiet measurement QTL GWAS976818 (human)5e-08diet measurementfood intake measurement (CMO:0000772)77942877979428780Human
406903911GWAS552887_Hfacial morphology measurement QTL GWAS552887 (human)0.0000002facial morphology measurement77811190478111905Human
407138670GWAS787646_Hcannabis dependence QTL GWAS787646 (human)5e-10cannabis dependence77810083678100837Human
407408226GWAS1057202_Hcolorectal cancer QTL GWAS1057202 (human)0.000003colorectal cancer77942580279425803Human
407071852GWAS720828_Hbody mass index QTL GWAS720828 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)77851026478510265Human
407143792GWAS792768_HMoyamoya disease QTL GWAS792768 (human)2e-22Moyamoya disease77903732779037328Human
407304573GWAS953549_Hcortex volume change measurement QTL GWAS953549 (human)0.000001cortex volume change measurement77815627478156275Human
407191416GWAS840392_Hacute graft vs. host disease QTL GWAS840392 (human)0.0000003acute graft vs. host disease77911130979111310Human
406971263GWAS620239_Hopioid use disorder QTL GWAS620239 (human)2e-08conditioned place preference behavior trait (VT:0010723)77812330078123301Human
407032067GWAS681043_Hwheezing QTL GWAS681043 (human)0.000009wheezing77895679678956797Human
406924034GWAS573010_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS573010 (human)3e-11sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)77836497778364978Human
406891525GWAS540501_Hpursuit maintenance gain measurement QTL GWAS540501 (human)0.000001pursuit maintenance gain measurement77813720378137204Human
407282435GWAS931411_Htaste liking measurement QTL GWAS931411 (human)8e-10taste liking measurement77930715279307153Human
407081226GWAS730202_Hbody mass index QTL GWAS730202 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)77819962378199624Human
407336460GWAS985436_Hinsomnia QTL GWAS985436 (human)4e-09insomnia77852524778525248Human
406991631GWAS640607_Hcomparative body size at age 10, self-reported QTL GWAS640607 (human)2e-09comparative body size at age 10, self-reported77820045178200452Human
407003663GWAS652639_Hvisceral adipose tissue measurement QTL GWAS652639 (human)0.000006visceral adipose tissue measurementabdominal fat morphological measurement (CMO:0000311)77834547478345475Human
407158027GWAS807003_HS-7-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS807003 (human)0.000005S-7-hydroxywarfarin to S-warfarin ratio measurement77805662978056630Human
406961678GWAS610654_Halcohol use disorder measurement QTL GWAS610654 (human)3e-08alcohol use disorder measurement77812695878126959Human
407304969GWAS953945_Hbody mass index QTL GWAS953945 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)77819774778197749Human
407154704GWAS803680_Hresponse to anticonvulsant QTL GWAS803680 (human)0.000002response to anticonvulsant77889197678891977Human
406902805GWAS551781_HCOVID-19 QTL GWAS551781 (human)0.0000003COVID-1977857708478577085Human
407278865GWAS927841_Hvaginal microbiome measurement QTL GWAS927841 (human)0.000007vaginal microbiome measurement77807254078072541Human
406947096GWAS596072_Hairway wall thickness measurement QTL GWAS596072 (human)0.000002airway wall thickness measurementlung morphological measurement (CMO:0000858)77806057178060572Human
407140888GWAS789864_HCCL24 measurement QTL GWAS789864 (human)2e-09CCL24 measurement77830371478303715Human
407259419GWAS908395_Hvaginal microbiome measurement QTL GWAS908395 (human)0.000003vaginal microbiome measurement77813476278134763Human
407261979GWAS910955_Hvision disorder QTL GWAS910955 (human)0.000008vision disorder77860944978609450Human
407114266GWAS763242_Hbody mass index QTL GWAS763242 (human)3e-13body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407114267GWAS763243_Hbody mass index QTL GWAS763243 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)77849214178492142Human
407330599GWAS979575_Halcohol consumption measurement QTL GWAS979575 (human)3e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)77850939778509398Human
407118630GWAS767606_Hsmoking status measurement QTL GWAS767606 (human)9e-10smoking status measurement77814266678142667Human
407118631GWAS767607_Hsmoking status measurement QTL GWAS767607 (human)6e-08smoking status measurement77851026478510265Human
406901796GWAS550772_Heducational attainment QTL GWAS550772 (human)0.0000001educational attainment77851914178519142Human
407052839GWAS701815_Hbody mass index QTL GWAS701815 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)77943252179432522Human
406901797GWAS550773_Heducational attainment QTL GWAS550773 (human)1e-15educational attainment77853205978532060Human
407004714GWAS653690_Hbody mass index QTL GWAS653690 (human)0.0000005body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407145005GWAS793981_HPR interval QTL GWAS793981 (human)0.000003PR intervalPR interval (CMO:0000233)77820919378209194Human
407139117GWAS788093_Hcoronary artery calcification QTL GWAS788093 (human)0.0000003coronary artery calcification77866347578663476Human
407118632GWAS767608_Hsmoking status measurement QTL GWAS767608 (human)1e-08smoking status measurement77877609378776094Human
407252790GWAS901766_Heducational attainment QTL GWAS901766 (human)7e-11educational attainment77834758778347588Human
407165750GWAS814726_Hlipid measurement QTL GWAS814726 (human)5e-08lipid measurementblood lipid measurement (CMO:0000050)77824229078242291Human
407037751GWAS686727_Hbody mass index QTL GWAS686727 (human)0.000002body mass indexbody mass index (BMI) (CMO:0000105)77819962378199624Human
406909241GWAS558217_Hmosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement QTL GWAS558217 (human)0.000003mosquito bite reaction itch intensity measurement, mosquito bite reaction size measurement77819562178195622Human
406943681GWAS592657_Hantidepressant-induced sexual dysfunction, trait in response to bupropion, response to antidepressant QTL GWAS592657 (human)0.000003antidepressant-induced sexual dysfunction, trait in response to bupropion, response to antidepressant77841397478413975Human
406987974GWAS636950_Hbody height QTL GWAS636950 (human)7e-10body height (VT:0001253)body height (CMO:0000106)77820045178200452Human
407138752GWAS787728_Hcoronary artery calcification QTL GWAS787728 (human)0.0000001coronary artery calcification77866347578663476Human
406987975GWAS636951_Hbody height QTL GWAS636951 (human)9e-12body height (VT:0001253)body height (CMO:0000106)77851505478515055Human
406919620GWAS568596_Hsmoking initiation QTL GWAS568596 (human)3e-16smoking initiation77870203878702039Human
407299788GWAS948764_Hschizophrenia QTL GWAS948764 (human)0.000003schizophrenia77870736178707362Human
406975949GWAS624925_Hsmoking initiation QTL GWAS624925 (human)2e-10smoking initiation77812695878126959Human
407030479GWAS679455_Hwheezing QTL GWAS679455 (human)0.000007wheezing77890238978902390Human
406947023GWAS595999_Hairway wall thickness measurement QTL GWAS595999 (human)0.0000006airway wall thickness measurementlung morphological measurement (CMO:0000858)77806057178060572Human
407050707GWAS699683_Hallantoin measurement QTL GWAS699683 (human)0.000008allantoin measurement77817552978175530Human
407030483GWAS679459_Hwheezing QTL GWAS679459 (human)0.0000002wheezing77905726679057267Human
407307221GWAS956197_Htype 2 diabetes mellitus QTL GWAS956197 (human)1e-08type 2 diabetes mellitus77819967478199675Human
406947029GWAS596005_Hairway wall thickness measurement QTL GWAS596005 (human)0.000001airway wall thickness measurementlung morphological measurement (CMO:0000858)77806057178060572Human
407044567GWAS693543_Hphysical activity QTL GWAS693543 (human)0.000003physical activity77852915578529156Human
407279826GWAS928802_Htaste liking measurement QTL GWAS928802 (human)9e-10taste liking measurement77928988379289884Human
406964180GWAS613156_HCOVID-19 QTL GWAS613156 (human)4e-11COVID-1977836952178369522Human
406964954GWAS613930_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS613930 (human)3e-11severe acute respiratory syndrome, COVID-1977855503478555035Human
406965466GWAS614442_Hdepressive symptom measurement, response to selective serotonin reuptake inhibitor QTL GWAS614442 (human)0.000001depressive symptom measurement, response to selective serotonin reuptake inhibitor77869492778694928Human
407125720GWAS774696_Hbody mass index QTL GWAS774696 (human)1e-13body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407027934GWAS676910_Hbody height QTL GWAS676910 (human)0.000005body height (VT:0001253)body height (CMO:0000106)77833547178335472Human
407125721GWAS774697_Hbody mass index QTL GWAS774697 (human)4e-10body mass indexbody mass index (BMI) (CMO:0000105)77849294678492947Human
407019484GWAS668460_Hhippocampal atrophy QTL GWAS668460 (human)0.000003hippocampal atrophy77854666078546661Human
407007458GWAS656434_Hchronotype measurement QTL GWAS656434 (human)9e-09chronotype measurement77819445478194455Human
407277541GWAS926517_Htaste liking measurement QTL GWAS926517 (human)2e-09taste liking measurement77816207278162073Human
407041508GWAS690484_Hblood lead measurement QTL GWAS690484 (human)0.000004blood lead measurement77828772178287722Human
407137762GWAS786738_HCCL24 measurement QTL GWAS786738 (human)2e-09CCL24 measurement77902353079023531Human
407079402GWAS728378_Hbody mass index QTL GWAS728378 (human)7e-18body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
406957549GWAS606525_Hadverse effect, response to xenobiotic stimulus QTL GWAS606525 (human)8e-08adverse effect, response to xenobiotic stimulus77914323079143231Human
407028719GWAS677695_Hacute lymphoblastic leukemia QTL GWAS677695 (human)0.000005acute lymphoblastic leukemia77870214978702150Human
407246059GWAS895035_HCOVID-19 QTL GWAS895035 (human)0.000006COVID-1977871507378715074Human
407137515GWAS786491_H3-hydroxypropylmercapturic acid measurement QTL GWAS786491 (human)0.0000043-hydroxypropylmercapturic acid measurement77805357378053574Human
407132918GWAS781894_Hschizophrenia QTL GWAS781894 (human)0.000001schizophrenia77870761878707619Human
407257074GWAS906050_Htaste liking measurement QTL GWAS906050 (human)4e-10taste liking measurement77813625178136252Human
407231984GWAS880960_Hbone density QTL GWAS880960 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)77828524178285242Human
406929657GWAS578633_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS578633 (human)0.000002sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)77836497778364978Human
407102459GWAS751435_Hage at menarche QTL GWAS751435 (human)3e-08age at menarche77853410778534108Human
407162876GWAS811852_Hschizophrenia QTL GWAS811852 (human)4e-08schizophrenia77870736178707362Human
406973689GWAS622665_Hmembrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 measurement QTL GWAS622665 (human)7e-688membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 measurement77943661179436612Human
407156986GWAS805962_Hrisk-taking behaviour QTL GWAS805962 (human)8e-09risk-taking behaviour77841942578419426Human
406933502GWAS582478_Hfolic acid measurement QTL GWAS582478 (human)0.000009folic acid measurement77809490978094910Human
407228293GWAS877269_Hbody height QTL GWAS877269 (human)0.000002body height (VT:0001253)body height (CMO:0000106)77911306079113061Human
407228292GWAS877268_Hbody height QTL GWAS877268 (human)4e-21body height (VT:0001253)body height (CMO:0000106)77873360178733602Human
407007630GWAS656606_Hbody mass index QTL GWAS656606 (human)0.0000002body mass indexbody mass index (BMI) (CMO:0000105)77819962378199624Human
407036818GWAS685794_Halcohol consumption measurement QTL GWAS685794 (human)1e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)77851331078513311Human
407056784GWAS705760_Hunipolar depression QTL GWAS705760 (human)0.0000007unipolar depression77884132978841330Human
407337887GWAS986863_Hsmoking initiation QTL GWAS986863 (human)4e-16smoking initiation77850922578509226Human
407337886GWAS986862_Hsmoking initiation QTL GWAS986862 (human)2e-23smoking initiation77814111778141118Human
407169181GWAS818157_Hbody fat percentage QTL GWAS818157 (human)1e-13body fat percentagebody fat percentage (CMO:0000302)77819774778197749Human
407039643GWAS688619_Hdense area measurement, mammographic density measurement QTL GWAS688619 (human)0.000002dense area measurement, mammographic density measurement77828502678285027Human
407337885GWAS986861_Hsmoking initiation QTL GWAS986861 (human)2e-23smoking initiation77814055578140556Human
406904474GWAS553450_HCOVID-19 QTL GWAS553450 (human)0.000002COVID-1977858390678583907Human
407307164GWAS956140_Hbitter beverage consumption measurement QTL GWAS956140 (human)0.0000006bitter beverage consumption measurementdrink intake measurement (CMO:0000771)77844131178441312Human
407036831GWAS685807_Halcohol consumption measurement QTL GWAS685807 (human)5e-11alcohol consumption measurementethanol drink intake rate (CMO:0001407)77852203078522031Human
406898590GWAS547566_Hcolorectal health QTL GWAS547566 (human)0.0000004colorectal health77827581378275814Human
407008422GWAS657398_Hbody mass index QTL GWAS657398 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)77849294678492947Human
407337890GWAS986866_Hsmoking initiation QTL GWAS986866 (human)1e-16smoking initiation77868622078686221Human
407337889GWAS986865_Hsmoking initiation QTL GWAS986865 (human)1e-16smoking initiation77868388478683885Human
407008421GWAS657397_Hbody mass index QTL GWAS657397 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407337888GWAS986864_Hsmoking initiation QTL GWAS986864 (human)1e-15smoking initiation77851090578510906Human
407056298GWAS705274_Hbody mass index QTL GWAS705274 (human)7e-26body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407169197GWAS818173_Hcervical cancer QTL GWAS818173 (human)0.0000002cervical cancer77871699878716999Human
407056297GWAS705273_Hbody mass index QTL GWAS705273 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)77817377778173778Human
407139503GWAS788479_Hcannabis dependence QTL GWAS788479 (human)6e-10cannabis dependence77808699278086993Human
406949290GWAS598266_Hmetabolite measurement QTL GWAS598266 (human)1e-08metabolite measurement77945184979451850Human
406933681GWAS582657_Hbody mass index QTL GWAS582657 (human)6e-11body mass indexbody mass index (BMI) (CMO:0000105)77817377778173778Human
407056307GWAS705283_Hbody mass index QTL GWAS705283 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)77826288878262889Human
406933683GWAS582659_Hbody mass index QTL GWAS582659 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)77849214178492142Human
406919602GWAS568578_Hsmoking initiation QTL GWAS568578 (human)1e-23smoking initiation77812754878127549Human
406933682GWAS582658_Hbody mass index QTL GWAS582658 (human)8e-17body mass indexbody mass index (BMI) (CMO:0000105)77820045178200452Human
407151287GWAS800263_Hschizophrenia QTL GWAS800263 (human)3e-08schizophrenia77870838478708385Human
406966965GWAS615941_Hcannabis dependence QTL GWAS615941 (human)2e-10cannabis dependence77812330078123301Human
406919607GWAS568583_Hsmoking initiation QTL GWAS568583 (human)3e-09smoking initiation77848807078488071Human
407056308GWAS705284_Hbody mass index QTL GWAS705284 (human)2e-10body mass indexbody mass index (BMI) (CMO:0000105)77849177178491772Human
406923960GWAS572936_Hsleep duration, low density lipoprotein cholesterol measurement QTL GWAS572936 (human)3e-09sleep duration, low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)77837170178371702Human
406919608GWAS568584_Hsmoking initiation QTL GWAS568584 (human)1e-14smoking initiation77850922578509226Human
406957499GWAS606475_Hbronchopulmonary dysplasia QTL GWAS606475 (human)0.000006bronchopulmonary dysplasia77852335578523356Human
406966719GWAS615695_Hsleep duration QTL GWAS615695 (human)0.000008sleep duration77805206278052063Human

Markers in Region
D7S669  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,872,514 - 77,872,652UniSTSGRCh37
GRCh37777,872,518 - 77,872,635UniSTSGRCh37
Build 36777,710,454 - 77,710,571RGDNCBI36
Celera772,573,081 - 72,573,213UniSTS
Celera772,573,085 - 72,573,196RGD
Cytogenetic Map7q21UniSTS
HuRef772,474,956 - 72,475,086UniSTS
HuRef772,474,960 - 72,475,069UniSTS
CRA_TCAGchr7v2777,204,486 - 77,204,624UniSTS
CRA_TCAGchr7v2777,204,490 - 77,204,607UniSTS
Marshfield Genetic Map790.42RGD
Genethon Genetic Map790.9UniSTS
TNG Radiation Hybrid Map733833.0UniSTS
deCODE Assembly Map789.39UniSTS
Stanford-G3 RH Map73674.0UniSTS
GeneMap99-GB4 RH Map7438.71UniSTS
Whitehead-RH Map7415.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7944.4UniSTS
GeneMap99-G3 RH Map73674.0UniSTS
D7S2421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,673,839 - 77,673,950UniSTSGRCh37
GRCh37777,673,979 - 77,674,071UniSTSGRCh37
Build 36777,511,915 - 77,512,007RGDNCBI36
Celera772,374,423 - 72,374,534UniSTS
Celera772,374,563 - 72,374,661RGD
Cytogenetic Map7q21UniSTS
HuRef772,276,780 - 72,276,878UniSTS
HuRef772,276,640 - 72,276,751UniSTS
CRA_TCAGchr7v2777,006,030 - 77,006,128UniSTS
CRA_TCAGchr7v2777,005,890 - 77,006,001UniSTS
Marshfield Genetic Map789.88UniSTS
Marshfield Genetic Map789.88RGD
Genethon Genetic Map790.3UniSTS
TNG Radiation Hybrid Map733757.0UniSTS
Stanford-G3 RH Map73615.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7929.3UniSTS
GeneMap99-G3 RH Map73615.0UniSTS
D7S2517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,708,206 - 77,708,272UniSTSGRCh37
Celera772,408,779 - 72,408,845UniSTS
Cytogenetic Map7q21UniSTS
HuRef772,311,138 - 72,311,204UniSTS
CRA_TCAGchr7v2777,040,245 - 77,040,311UniSTS
Marshfield Genetic Map789.88RGD
Genethon Genetic Map790.3UniSTS
deCODE Assembly Map789.39UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2204  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,126,923 - 78,127,149UniSTSGRCh37
Build 36777,964,859 - 77,965,085RGDNCBI36
Celera772,827,200 - 72,827,426RGD
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q36UniSTS
HuRef772,729,053 - 72,729,307UniSTS
CRA_TCAGchr7v2777,458,629 - 77,458,855UniSTS
Marshfield Genetic Map790.95UniSTS
Marshfield Genetic Map790.95RGD
TNG Radiation Hybrid Map733928.0UniSTS
Whitehead-RH Map7418.7UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,274,257 - 78,274,469UniSTSGRCh37
Build 36778,112,193 - 78,112,405RGDNCBI36
Celera772,974,518 - 72,974,730RGD
Cytogenetic Map7q21UniSTS
HuRef772,876,338 - 72,876,537UniSTS
CRA_TCAGchr7v2777,605,944 - 77,606,145UniSTS
Marshfield Genetic Map791.67RGD
Marshfield Genetic Map791.67UniSTS
Genethon Genetic Map792.2UniSTS
TNG Radiation Hybrid Map733979.0UniSTS
deCODE Assembly Map790.93UniSTS
Stanford-G3 RH Map73720.0UniSTS
NCBI RH Map7950.7UniSTS
GeneMap99-G3 RH Map73720.0UniSTS
GDB:1317710  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,170,034 - 78,170,120UniSTSGRCh37
Build 36778,007,970 - 78,008,056RGDNCBI36
Celera772,870,312 - 72,870,398RGD
Cytogenetic Map7q21UniSTS
HuRef772,772,164 - 72,772,250UniSTS
HuRef1186,209,406 - 86,209,493UniSTS
CRA_TCAGchr7v2777,501,742 - 77,501,828UniSTS
WI-18076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,689,157 - 77,689,306UniSTSGRCh37
Build 36777,527,093 - 77,527,242RGDNCBI36
Celera772,389,743 - 72,389,892RGD
Cytogenetic Map7q21UniSTS
HuRef772,291,960 - 72,292,109UniSTS
CRA_TCAGchr7v2777,021,210 - 77,021,359UniSTS
GeneMap99-GB4 RH Map7438.71UniSTS
Whitehead-RH Map7419.2UniSTS
G17176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,749,133 - 78,749,334UniSTSGRCh37
Build 36778,587,069 - 78,587,270RGDNCBI36
Celera773,449,415 - 73,449,616RGD
Cytogenetic Map7q21UniSTS
HuRef773,351,223 - 73,351,424UniSTS
CRA_TCAGchr7v2778,080,853 - 78,081,054UniSTS
GDB:1318088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,357,509 - 78,357,639UniSTSGRCh37
Build 36778,195,445 - 78,195,575RGDNCBI36
Celera773,057,772 - 73,057,902RGD
Cytogenetic Map7q21UniSTS
HuRef772,959,639 - 72,959,769UniSTS
CRA_TCAGchr7v2777,689,203 - 77,689,333UniSTS
GDB:1317842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,781,088 - 78,781,194UniSTSGRCh37
Build 36778,619,024 - 78,619,130RGDNCBI36
Celera773,481,350 - 73,481,456RGD
Cytogenetic Map7q21UniSTS
HuRef773,383,144 - 73,383,250UniSTS
CRA_TCAGchr7v2778,112,794 - 78,112,900UniSTS
SHGC-31005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,787,123 - 78,787,262UniSTSGRCh37
Build 36778,625,059 - 78,625,198RGDNCBI36
Celera773,487,397 - 73,487,535RGD
Cytogenetic Map7q21UniSTS
HuRef773,389,191 - 73,389,329UniSTS
CRA_TCAGchr7v2778,118,841 - 78,118,979UniSTS
TNG Radiation Hybrid Map734217.0UniSTS
GeneMap99-GB4 RH Map7439.01UniSTS
Whitehead-RH Map7419.2UniSTS
NCBI RH Map7936.7UniSTS
A009X37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,821,549 - 78,821,726UniSTSGRCh37
Build 36778,659,485 - 78,659,662RGDNCBI36
Celera773,521,764 - 73,521,941RGD
Cytogenetic Map7q21UniSTS
HuRef773,423,575 - 73,423,752UniSTS
CRA_TCAGchr7v2778,153,241 - 78,153,418UniSTS
GeneMap99-GB4 RH Map7443.08UniSTS
NCBI RH Map7955.2UniSTS
GDB:1317594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,361,591 - 78,361,668UniSTSGRCh37
Build 36778,199,527 - 78,199,604RGDNCBI36
Celera773,061,838 - 73,061,915RGD
Cytogenetic Map7q21UniSTS
HuRef772,963,705 - 72,963,782UniSTS
CRA_TCAGchr7v2777,693,269 - 77,693,346UniSTS
SHGC-79837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,746,714 - 78,747,019UniSTSGRCh37
Build 36778,584,650 - 78,584,955RGDNCBI36
Celera773,446,996 - 73,447,301RGD
Cytogenetic Map7q21UniSTS
HuRef773,348,804 - 73,349,109UniSTS
CRA_TCAGchr7v2778,078,434 - 78,078,739UniSTS
TNG Radiation Hybrid Map734175.0UniSTS
SHGC-79835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,581,197 - 78,581,467UniSTSGRCh37
Build 36778,419,133 - 78,419,403RGDNCBI36
Celera773,281,476 - 73,281,746RGD
Cytogenetic Map7q21UniSTS
HuRef773,183,227 - 73,183,497UniSTS
CRA_TCAGchr7v2777,912,909 - 77,913,179UniSTS
TNG Radiation Hybrid Map734104.0UniSTS
SHGC-83003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,427,895 - 78,428,195UniSTSGRCh37
Build 36778,265,831 - 78,266,131RGDNCBI36
Celera773,128,143 - 73,128,443RGD
Cytogenetic Map7q21UniSTS
HuRef773,029,980 - 73,030,280UniSTS
CRA_TCAGchr7v2777,759,573 - 77,759,873UniSTS
TNG Radiation Hybrid Map734044.0UniSTS
SHGC-80080  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,283,693 - 78,283,884UniSTSGRCh37
Build 36778,121,629 - 78,121,820RGDNCBI36
Celera772,983,969 - 72,984,160RGD
Cytogenetic Map7q21UniSTS
HuRef772,885,788 - 72,885,979UniSTS
CRA_TCAGchr7v2777,615,386 - 77,615,577UniSTS
TNG Radiation Hybrid Map733987.0UniSTS
SHGC-81349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,981,646 - 78,981,923UniSTSGRCh37
Build 36778,819,582 - 78,819,859RGDNCBI36
Celera773,682,685 - 73,682,962RGD
Cytogenetic Map7q21UniSTS
HuRef773,583,827 - 73,584,104UniSTS
CRA_TCAGchr7v2778,313,256 - 78,313,533UniSTS
TNG Radiation Hybrid Map734316.0UniSTS
SHGC-82131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37779,039,835 - 79,040,136UniSTSGRCh37
Build 36778,877,771 - 78,878,072RGDNCBI36
Celera773,740,833 - 73,741,134RGD
Cytogenetic Map7q21UniSTS
HuRef773,641,986 - 73,642,287UniSTS
CRA_TCAGchr7v2778,371,440 - 78,371,741UniSTS
TNG Radiation Hybrid Map734334.0UniSTS
SHGC-85234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,682,741 - 77,683,027UniSTSGRCh37
Build 36777,520,677 - 77,520,963RGDNCBI36
Celera772,383,327 - 72,383,613RGD
Cytogenetic Map7q21UniSTS
HuRef772,285,544 - 72,285,830UniSTS
CRA_TCAGchr7v2777,014,794 - 77,015,080UniSTS
TNG Radiation Hybrid Map733744.0UniSTS
SHGC-82461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,997,406 - 77,997,678UniSTSGRCh37
Build 36777,835,342 - 77,835,614RGDNCBI36
Celera772,697,709 - 72,697,981RGD
Cytogenetic Map7q21UniSTS
HuRef772,599,604 - 72,599,876UniSTS
CRA_TCAGchr7v2777,329,128 - 77,329,400UniSTS
TNG Radiation Hybrid Map733892.0UniSTS
SHGC-84053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,975,933 - 77,976,205UniSTSGRCh37
Build 36777,813,869 - 77,814,141RGDNCBI36
Celera772,676,237 - 72,676,509RGD
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q21.11UniSTS
HuRef772,578,131 - 72,578,403UniSTS
CRA_TCAGchr7v2777,307,646 - 77,307,918UniSTS
TNG Radiation Hybrid Map733874.0UniSTS
RH119987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,008,880 - 78,009,156UniSTSGRCh37
Build 36777,846,816 - 77,847,092RGDNCBI36
Celera772,709,183 - 72,709,459RGD
Cytogenetic Map7q21UniSTS
HuRef772,611,084 - 72,611,360UniSTS
CRA_TCAGchr7v2777,340,603 - 77,340,879UniSTS
TNG Radiation Hybrid Map733904.0UniSTS
RH120526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,815,798 - 78,817,328UniSTSGRCh37
GRCh37778,817,057 - 78,817,328UniSTSGRCh37
Build 36778,654,993 - 78,655,264RGDNCBI36
Celera773,516,016 - 73,517,544UniSTS
Celera773,517,273 - 73,517,544RGD
Cytogenetic Map7q21UniSTS
HuRef773,419,083 - 73,419,354UniSTS
HuRef773,417,826 - 73,419,354UniSTS
CRA_TCAGchr7v2778,147,491 - 78,149,021UniSTS
CRA_TCAGchr7v2778,148,750 - 78,149,021UniSTS
RH118918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,548,447 - 78,548,772UniSTSGRCh37
Build 36778,386,383 - 78,386,708RGDNCBI36
Celera773,248,727 - 73,249,052RGD
Cytogenetic Map7q21UniSTS
HuRef773,150,479 - 73,150,804UniSTS
CRA_TCAGchr7v2777,880,156 - 77,880,481UniSTS
TNG Radiation Hybrid Map734079.0UniSTS
D7S2135E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,918,251 - 78,918,484UniSTSGRCh37
Build 36778,756,187 - 78,756,420RGDNCBI36
Celera773,618,432 - 73,618,665RGD
Cytogenetic Map7q21UniSTS
HuRef773,520,466 - 73,520,699UniSTS
CRA_TCAGchr7v2778,249,913 - 78,250,146UniSTS
SHGC-132385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,060,347 - 78,060,621UniSTSGRCh37
Build 36777,898,283 - 77,898,557RGDNCBI36
Celera772,760,642 - 72,760,916RGD
Cytogenetic Map7q21UniSTS
HuRef772,662,496 - 72,662,770UniSTS
CRA_TCAGchr7v2777,392,062 - 77,392,336UniSTS
TNG Radiation Hybrid Map733907.0UniSTS
GDB:1317846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,291,949 - 78,292,087UniSTSGRCh37
Build 36778,129,885 - 78,130,023RGDNCBI36
Celera772,992,215 - 72,992,353RGD
Cytogenetic Map7q21UniSTS
HuRef772,894,038 - 72,894,176UniSTS
CRA_TCAGchr7v2777,623,649 - 77,623,787UniSTS
GDB:1317832  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,548,709 - 78,548,810UniSTSGRCh37
Build 36778,386,645 - 78,386,746RGDNCBI36
Celera773,248,989 - 73,249,090RGD
Cytogenetic Map7q21UniSTS
HuRef773,150,741 - 73,150,842UniSTS
CRA_TCAGchr7v2777,880,418 - 77,880,519UniSTS
GDB:1317844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,430,098 - 78,430,247UniSTSGRCh37
Build 36778,268,034 - 78,268,183RGDNCBI36
Celera773,130,346 - 73,130,495RGD
Cytogenetic Map7q21UniSTS
HuRef773,032,183 - 73,032,332UniSTS
CRA_TCAGchr7v2777,761,776 - 77,761,925UniSTS
GDB:1317838  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,319,619 - 78,319,711UniSTSGRCh37
Build 36778,157,555 - 78,157,647RGDNCBI36
Celera773,019,865 - 73,019,957RGD
Cytogenetic Map7q21UniSTS
HuRef772,921,682 - 72,921,774UniSTS
CRA_TCAGchr7v2777,651,294 - 77,651,386UniSTS
SHGC-31136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,085,425 - 78,085,574UniSTSGRCh37
Build 36777,923,361 - 77,923,510RGDNCBI36
Celera772,785,710 - 72,785,859RGD
Cytogenetic Map7q21UniSTS
HuRef772,687,561 - 72,687,710UniSTS
CRA_TCAGchr7v2777,417,129 - 77,417,278UniSTS
TNG Radiation Hybrid Map733915.0UniSTS
Stanford-G3 RH Map73697.0UniSTS
GeneMap99-GB4 RH Map7438.61UniSTS
Whitehead-RH Map7418.9UniSTS
NCBI RH Map7947.7UniSTS
GeneMap99-G3 RH Map73697.0UniSTS
SHGC-60231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,797,770 - 77,797,900UniSTSGRCh37
Build 36777,635,706 - 77,635,836RGDNCBI36
Celera772,498,323 - 72,498,453RGD
Cytogenetic Map7q21UniSTS
HuRef772,400,682 - 72,400,812UniSTS
CRA_TCAGchr7v2777,129,793 - 77,129,923UniSTS
TNG Radiation Hybrid Map733799.0UniSTS
GDB:1318491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,714,958 - 77,715,078UniSTSGRCh37
Build 36777,552,894 - 77,553,014RGDNCBI36
Celera772,415,531 - 72,415,651RGD
Cytogenetic Map7q21UniSTS
HuRef772,317,888 - 72,318,008UniSTS
CRA_TCAGchr7v2777,046,997 - 77,047,117UniSTS
D7S1950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,610,022 - 78,610,151UniSTSGRCh37
Build 36778,447,958 - 78,448,087RGDNCBI36
Celera773,310,287 - 73,310,416RGD
Cytogenetic Map7q21UniSTS
HuRef773,212,049 - 73,212,178UniSTS
CRA_TCAGchr7v2777,941,720 - 77,941,849UniSTS
CHLC.GATA8G02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,184,432 - 78,184,612UniSTSGRCh37
Build 36778,022,368 - 78,022,548RGDNCBI36
Celera772,884,704 - 72,884,880RGD
Cytogenetic Map7q21UniSTS
HuRef772,786,562 - 72,786,726UniSTS
CRA_TCAGchr7v2777,516,134 - 77,516,314UniSTS
Whitehead-YAC Contig Map8 UniSTS
AFMb281wd5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,060,314 - 78,060,509UniSTSGRCh37
Build 36777,898,250 - 77,898,445RGDNCBI36
Celera772,760,609 - 72,760,804RGD
Cytogenetic Map7q21UniSTS
HuRef772,662,463 - 72,662,658UniSTS
CRA_TCAGchr7v2777,392,029 - 77,392,224UniSTS
SGC30594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,647,921 - 77,648,049UniSTSGRCh37
Build 36777,485,857 - 77,485,985RGDNCBI36
Celera772,348,525 - 72,348,653RGD
Cytogenetic Map7q21UniSTS
HuRef772,250,952 - 72,251,080UniSTS
CRA_TCAGchr7v2776,979,983 - 76,980,111UniSTS
GeneMap99-GB4 RH Map7443.08UniSTS
Whitehead-RH Map7408.8UniSTS
NCBI RH Map7958.7UniSTS
AFM312xb5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,620,111 - 78,620,362UniSTSGRCh37
Build 36778,458,047 - 78,458,298RGDNCBI36
Celera773,320,376 - 73,320,633RGD
Cytogenetic Map7q21UniSTS
HuRef773,222,138 - 73,222,395UniSTS
CRA_TCAGchr7v2777,951,809 - 77,952,066UniSTS
Whitehead-RH Map7416.3UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7955.2UniSTS
SHGC-53900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,937,898 - 77,938,087UniSTSGRCh37
Build 36777,775,834 - 77,776,023RGDNCBI36
Celera772,638,461 - 72,638,650RGD
Cytogenetic Map7q21UniSTS
HuRef772,540,359 - 72,540,548UniSTS
CRA_TCAGchr7v2777,269,872 - 77,270,061UniSTS
GeneMap99-G3 RH Map73682.0UniSTS
GDB:4585245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,702,759 - 77,702,842UniSTSGRCh37
Build 36777,540,695 - 77,540,778RGDNCBI36
Celera772,403,334 - 72,403,417RGD
Cytogenetic Map7q21UniSTS
HuRef772,305,690 - 72,305,773UniSTS
CRA_TCAGchr7v2777,034,800 - 77,034,883UniSTS
GDB:1318164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,205,583 - 78,205,672UniSTSGRCh37
Build 36778,043,519 - 78,043,608RGDNCBI36
Celera772,905,846 - 72,905,935RGD
Cytogenetic Map7q21UniSTS
HuRef772,807,684 - 72,807,773UniSTS
CRA_TCAGchr7v2777,537,272 - 77,537,361UniSTS
D7S1859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,020,456 - 78,020,684UniSTSGRCh37
Build 36777,858,392 - 77,858,620RGDNCBI36
Celera772,720,765 - 72,720,993RGD
Cytogenetic Map7q21UniSTS
HuRef772,622,665 - 72,622,893UniSTS
CRA_TCAGchr7v2777,352,185 - 77,352,413UniSTS
Whitehead-YAC Contig Map7 UniSTS
D7S2815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,127,283 - 78,127,488UniSTSGRCh37
Build 36777,965,219 - 77,965,424RGDNCBI36
Celera772,827,560 - 72,827,765RGD
Cytogenetic Map7q21UniSTS
HuRef772,729,441 - 72,729,646UniSTS
CRA_TCAGchr7v2777,458,989 - 77,459,194UniSTS
Whitehead-RH Map7419.4UniSTS
Whitehead-YAC Contig Map7 UniSTS
G17119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,145,388 - 78,145,593UniSTSGRCh37
Build 36777,983,324 - 77,983,529RGDNCBI36
Celera772,845,665 - 72,845,870RGD
Cytogenetic Map7q21UniSTS
HuRef772,747,517 - 72,747,722UniSTS
CRA_TCAGchr7v2777,477,095 - 77,477,300UniSTS
D7S1885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,000,411 - 78,000,501UniSTSGRCh37
Build 36777,838,347 - 77,838,437RGDNCBI36
Celera772,700,714 - 72,700,804RGD
Cytogenetic Map7q21UniSTS
HuRef772,602,610 - 72,602,700UniSTS
CRA_TCAGchr7v2777,332,133 - 77,332,223UniSTS
D7S1446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,448,144 - 78,448,340UniSTSGRCh37
Build 36778,286,080 - 78,286,276RGDNCBI36
Celera773,148,396 - 73,148,592RGD
Cytogenetic Map7q21UniSTS
HuRef773,050,233 - 73,050,429UniSTS
CRA_TCAGchr7v2777,779,825 - 77,780,021UniSTS
WI-22277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,918,259 - 78,918,508UniSTSGRCh37
Build 36778,756,195 - 78,756,444RGDNCBI36
Celera773,618,440 - 73,618,689RGD
Cytogenetic Map7q21UniSTS
HuRef773,520,474 - 73,520,723UniSTS
CRA_TCAGchr7v2778,249,921 - 78,250,170UniSTS
GeneMap99-GB4 RH Map7442.76UniSTS
Whitehead-RH Map7408.6UniSTS
NCBI RH Map7956.8UniSTS
GDB:1318152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37779,004,076 - 79,004,169UniSTSGRCh37
Build 36778,842,012 - 78,842,105RGDNCBI36
Celera773,705,114 - 73,705,207RGD
Cytogenetic Map7q21UniSTS
HuRef773,606,265 - 73,606,358UniSTS
CRA_TCAGchr7v2778,335,684 - 78,335,777UniSTS
GDB:1317902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,146,005 - 78,146,165UniSTSGRCh37
Build 36777,983,941 - 77,984,101RGDNCBI36
Celera772,846,282 - 72,846,442RGD
Cytogenetic Map7q21UniSTS
HuRef772,748,134 - 72,748,294UniSTS
CRA_TCAGchr7v2777,477,712 - 77,477,872UniSTS
SHGC-60232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,654,900 - 77,655,003UniSTSGRCh37
Build 36777,492,836 - 77,492,939RGDNCBI36
Celera772,355,505 - 72,355,608RGD
Cytogenetic Map7q21UniSTS
HuRef772,257,714 - 72,257,817UniSTS
CRA_TCAGchr7v2776,986,963 - 76,987,066UniSTS
TNG Radiation Hybrid Map733762.0UniSTS
AIP1__4270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,646,224 - 77,647,062UniSTSGRCh37
Build 36777,484,160 - 77,484,998RGDNCBI36
Celera772,346,828 - 72,347,666RGD
HuRef772,249,255 - 72,250,093UniSTS
CRA_TCAGchr7v2776,978,286 - 76,979,124UniSTS
MAGI2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37777,789,377 - 77,789,523UniSTSGRCh37
Celera772,489,930 - 72,490,076UniSTS
HuRef772,392,290 - 72,392,436UniSTS
CRA_TCAGchr7v2777,121,400 - 77,121,546UniSTS
ha2177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,168,158 - 78,168,702UniSTSGRCh37
Celera772,868,436 - 72,868,980UniSTS
HuRef772,770,288 - 72,770,832UniSTS
CRA_TCAGchr7v2777,499,866 - 77,500,410UniSTS
G32958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37778,821,549 - 78,821,726UniSTSGRCh37
Celera773,521,764 - 73,521,941UniSTS
Cytogenetic Map7q21UniSTS
HuRef773,423,575 - 73,423,752UniSTS
CRA_TCAGchr7v2778,153,241 - 78,153,418UniSTS
D7S2421  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21UniSTS
D7S669  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21UniSTS
Cytogenetic Map7q11-q21UniSTS
Marshfield Genetic Map790.42UniSTS
Genethon Genetic Map790.9UniSTS
deCODE Assembly Map789.39UniSTS
Whitehead-RH Map7415.1UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map7954.1UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2424 2788 2241 4969 1726 2343 3 622 1612 465 2267 6951 6130 51 3733 843 1736 1608 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA448362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA890379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB014605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z19922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354212   ⟹   ENSP00000346151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,055 - 79,453,667 (-)Ensembl
Ensembl Acc Id: ENST00000419488   ⟹   ENSP00000405766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,076 - 79,453,555 (-)Ensembl
Ensembl Acc Id: ENST00000440555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,901,275 - 79,000,298 (-)Ensembl
Ensembl Acc Id: ENST00000519748   ⟹   ENSP00000486774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,078,383 - 78,490,020 (-)Ensembl
Ensembl Acc Id: ENST00000520379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,185,505 - 78,490,001 (-)Ensembl
Ensembl Acc Id: ENST00000522342   ⟹   ENSP00000486379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,158,207 - 78,178,067 (-)Ensembl
Ensembl Acc Id: ENST00000522391   ⟹   ENSP00000428389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,019,033 - 79,453,459 (-)Ensembl
Ensembl Acc Id: ENST00000524268   ⟹   ENSP00000487001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,159,799 - 78,167,973 (-)Ensembl
Ensembl Acc Id: ENST00000524316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,178,036 - 78,197,856 (-)Ensembl
Ensembl Acc Id: ENST00000535697   ⟹   ENSP00000441603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,081 - 78,627,243 (-)Ensembl
Ensembl Acc Id: ENST00000626691   ⟹   ENSP00000486131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,019,017 - 78,771,112 (-)Ensembl
Ensembl Acc Id: ENST00000628361   ⟹   ENSP00000486154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,160,070 - 78,195,063 (-)Ensembl
Ensembl Acc Id: ENST00000628781   ⟹   ENSP00000485970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,255,789 - 78,771,080 (-)Ensembl
Ensembl Acc Id: ENST00000628980   ⟹   ENSP00000487526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,057 - 78,627,243 (-)Ensembl
Ensembl Acc Id: ENST00000628997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl779,006,667 - 79,453,120 (-)Ensembl
Ensembl Acc Id: ENST00000629359   ⟹   ENSP00000487448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,081 - 78,771,323 (-)Ensembl
Ensembl Acc Id: ENST00000630991   ⟹   ENSP00000487435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,255,769 - 78,771,322 (-)Ensembl
Ensembl Acc Id: ENST00000634996   ⟹   ENSP00000489533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,343,917 - 78,490,020 (-)Ensembl
Ensembl Acc Id: ENST00000635863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,518,064 - 78,568,364 (-)Ensembl
Ensembl Acc Id: ENST00000635961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,035,190 - 78,065,655 (-)Ensembl
Ensembl Acc Id: ENST00000636039   ⟹   ENSP00000490259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,251,414 - 78,489,900 (-)Ensembl
Ensembl Acc Id: ENST00000636040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,019,961 - 78,035,016 (-)Ensembl
Ensembl Acc Id: ENST00000636178   ⟹   ENSP00000489709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,132,939 - 78,489,968 (-)Ensembl
Ensembl Acc Id: ENST00000636234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl779,409,989 - 79,453,035 (-)Ensembl
Ensembl Acc Id: ENST00000636424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl779,007,191 - 79,351,885 (-)Ensembl
Ensembl Acc Id: ENST00000636593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,256,516 - 78,285,806 (-)Ensembl
Ensembl Acc Id: ENST00000636717   ⟹   ENSP00000490128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,256,025 - 78,770,859 (-)Ensembl
Ensembl Acc Id: ENST00000636936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,256,543 - 78,285,768 (-)Ensembl
Ensembl Acc Id: ENST00000636989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,946,707 - 79,008,938 (-)Ensembl
Ensembl Acc Id: ENST00000636993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,614,366 - 78,771,040 (-)Ensembl
Ensembl Acc Id: ENST00000637074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,369,156 - 78,489,791 (-)Ensembl
Ensembl Acc Id: ENST00000637136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,456,926 - 78,489,829 (-)Ensembl
Ensembl Acc Id: ENST00000637249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,484,138 - 78,490,052 (-)Ensembl
Ensembl Acc Id: ENST00000637282   ⟹   ENSP00000490637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,072,558 - 78,490,029 (-)Ensembl
Ensembl Acc Id: ENST00000637441   ⟹   ENSP00000489633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,017,092 - 79,453,487 (-)Ensembl
Ensembl Acc Id: ENST00000637486   ⟹   ENSP00000490080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,078,059 - 78,771,118 (-)Ensembl
Ensembl Acc Id: ENST00000637515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,501,721 - 78,509,383 (-)Ensembl
Ensembl Acc Id: ENST00000637585   ⟹   ENSP00000490629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,019,902 - 78,065,651 (-)Ensembl
Ensembl Acc Id: ENST00000637728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,518,659 - 78,568,198 (-)Ensembl
Ensembl Acc Id: ENST00000637824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,501,758 - 78,519,101 (-)Ensembl
Ensembl Acc Id: ENST00000637879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,621,279 - 78,627,197 (-)Ensembl
Ensembl Acc Id: ENST00000637976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,039,559 - 78,078,973 (-)Ensembl
Ensembl Acc Id: ENST00000676103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl778,624,710 - 78,771,122 (-)Ensembl
RefSeq Acc Id: NM_001301128   ⟹   NP_001288057
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
CHM1_1777,576,560 - 79,013,089 (-)NCBI
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012301   ⟹   NP_036433
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
GRCh37777,646,374 - 79,083,121 (-)NCBI
Build 36777,484,310 - 78,920,826 (-)NCBI Archive
HuRef772,249,405 - 73,685,020 (-)ENTREZGENE
CHM1_1777,576,560 - 79,013,089 (-)NCBI
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
CRA_TCAGchr7v2776,978,436 - 78,414,480 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011516718   ⟹   XP_011515020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516720   ⟹   XP_011515022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 78,762,191 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516728   ⟹   XP_011515030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 78,490,029 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012840   ⟹   XP_016868329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012841   ⟹   XP_016868330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012842   ⟹   XP_016868331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012843   ⟹   XP_016868332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012844   ⟹   XP_016868333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012845   ⟹   XP_016868334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012846   ⟹   XP_016868335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012847   ⟹   XP_016868336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 78,762,191 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421092   ⟹   XP_047277048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
RefSeq Acc Id: XM_047421093   ⟹   XP_047277049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,017,055 - 79,453,667 (-)NCBI
RefSeq Acc Id: XM_054359435   ⟹   XP_054215410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359436   ⟹   XP_054215411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359437   ⟹   XP_054215412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359438   ⟹   XP_054215413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359439   ⟹   XP_054215414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359440   ⟹   XP_054215415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359441   ⟹   XP_054215416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359442   ⟹   XP_054215417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359443   ⟹   XP_054215418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359444   ⟹   XP_054215419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,705,470 (-)NCBI
RefSeq Acc Id: XM_054359445   ⟹   XP_054215420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,014,196 (-)NCBI
RefSeq Acc Id: XM_054359446   ⟹   XP_054215421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0779,268,893 - 80,014,196 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001288057 (Get FASTA)   NCBI Sequence Viewer  
  NP_036433 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515020 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515022 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515030 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868329 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868330 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868331 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868332 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868333 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868334 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868335 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868336 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277048 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215410 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215411 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215412 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215413 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215414 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215415 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215416 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215417 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215418 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215419 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215420 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215421 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC05370 (Get FASTA)   NCBI Sequence Viewer  
  AAC23438 (Get FASTA)   NCBI Sequence Viewer  
  AAC25530 (Get FASTA)   NCBI Sequence Viewer  
  AAC61488 (Get FASTA)   NCBI Sequence Viewer  
  AAC79151 (Get FASTA)   NCBI Sequence Viewer  
  AAD15413 (Get FASTA)   NCBI Sequence Viewer  
  AAF66080 (Get FASTA)   NCBI Sequence Viewer  
  AAI50278 (Get FASTA)   NCBI Sequence Viewer  
  AAP21886 (Get FASTA)   NCBI Sequence Viewer  
  AAP22360 (Get FASTA)   NCBI Sequence Viewer  
  BAA31680 (Get FASTA)   NCBI Sequence Viewer  
  BAH12560 (Get FASTA)   NCBI Sequence Viewer  
  BAH12619 (Get FASTA)   NCBI Sequence Viewer  
  BAH12916 (Get FASTA)   NCBI Sequence Viewer  
  EAL24194 (Get FASTA)   NCBI Sequence Viewer  
  EAW77021 (Get FASTA)   NCBI Sequence Viewer  
  EAW77022 (Get FASTA)   NCBI Sequence Viewer  
  EAW77023 (Get FASTA)   NCBI Sequence Viewer  
  EAW77024 (Get FASTA)   NCBI Sequence Viewer  
  EAW77025 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000346151
  ENSP00000346151.4
  ENSP00000405766
  ENSP00000405766.1
  ENSP00000428389
  ENSP00000428389.1
  ENSP00000485970.1
  ENSP00000486131
  ENSP00000486131.1
  ENSP00000486154.1
  ENSP00000486379.1
  ENSP00000486774.1
  ENSP00000487001.1
  ENSP00000487435.1
  ENSP00000487448.1
  ENSP00000489533.1
  ENSP00000489633.1
  ENSP00000489709.1
  ENSP00000490080.1
  ENSP00000490128.1
  ENSP00000490259.1
  ENSP00000490629.1
  ENSP00000490637.1
GenBank Protein Q86UL8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_036433   ⟸   NM_012301
- Peptide Label: isoform 1
- UniProtKB: Q9UDQ5 (UniProtKB/Swiss-Prot),   Q9NP44 (UniProtKB/Swiss-Prot),   Q86UI7 (UniProtKB/Swiss-Prot),   O60510 (UniProtKB/Swiss-Prot),   O60434 (UniProtKB/Swiss-Prot),   A7E2C3 (UniProtKB/Swiss-Prot),   A4D1C1 (UniProtKB/Swiss-Prot),   Q9UDU1 (UniProtKB/Swiss-Prot),   Q86UL8 (UniProtKB/Swiss-Prot),   B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288057   ⟸   NM_001301128
- Peptide Label: isoform 2
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515020   ⟸   XM_011516718
- Peptide Label: isoform X6
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515022   ⟸   XM_011516720
- Peptide Label: isoform X11
- UniProtKB: A0A0D9SEY4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515030   ⟸   XM_011516728
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016868334   ⟸   XM_017012845
- Peptide Label: isoform X7
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868335   ⟸   XM_017012846
- Peptide Label: isoform X9
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868330   ⟸   XM_017012841
- Peptide Label: isoform X2
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868331   ⟸   XM_017012842
- Peptide Label: isoform X3
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868332   ⟸   XM_017012843
- Peptide Label: isoform X4
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868333   ⟸   XM_017012844
- Peptide Label: isoform X5
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868329   ⟸   XM_017012840
- Peptide Label: isoform X1
- UniProtKB: B7Z4H4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868336   ⟸   XM_017012847
- Peptide Label: isoform X11
- UniProtKB: A0A0D9SEY4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000489533   ⟸   ENST00000634996
Ensembl Acc Id: ENSP00000489709   ⟸   ENST00000636178
Ensembl Acc Id: ENSP00000490259   ⟸   ENST00000636039
Ensembl Acc Id: ENSP00000490128   ⟸   ENST00000636717
Ensembl Acc Id: ENSP00000490629   ⟸   ENST00000637585
Ensembl Acc Id: ENSP00000489633   ⟸   ENST00000637441
Ensembl Acc Id: ENSP00000490080   ⟸   ENST00000637486
Ensembl Acc Id: ENSP00000490637   ⟸   ENST00000637282
Ensembl Acc Id: ENSP00000486774   ⟸   ENST00000519748
Ensembl Acc Id: ENSP00000486131   ⟸   ENST00000626691
Ensembl Acc Id: ENSP00000441603   ⟸   ENST00000535697
Ensembl Acc Id: ENSP00000486154   ⟸   ENST00000628361
Ensembl Acc Id: ENSP00000487526   ⟸   ENST00000628980
Ensembl Acc Id: ENSP00000485970   ⟸   ENST00000628781
Ensembl Acc Id: ENSP00000487448   ⟸   ENST00000629359
Ensembl Acc Id: ENSP00000486379   ⟸   ENST00000522342
Ensembl Acc Id: ENSP00000428389   ⟸   ENST00000522391
Ensembl Acc Id: ENSP00000405766   ⟸   ENST00000419488
Ensembl Acc Id: ENSP00000487001   ⟸   ENST00000524268
Ensembl Acc Id: ENSP00000346151   ⟸   ENST00000354212
Ensembl Acc Id: ENSP00000487435   ⟸   ENST00000630991
RefSeq Acc Id: XP_047277049   ⟸   XM_047421093
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047277048   ⟸   XM_047421092
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054215419   ⟸   XM_054359444
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054215416   ⟸   XM_054359441
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054215418   ⟸   XM_054359443
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054215415   ⟸   XM_054359440
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054215411   ⟸   XM_054359436
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215412   ⟸   XM_054359437
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215417   ⟸   XM_054359442
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054215413   ⟸   XM_054359438
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054215414   ⟸   XM_054359439
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054215410   ⟸   XM_054359435
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215421   ⟸   XM_054359446
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054215420   ⟸   XM_054359445
- Peptide Label: isoform X11
Protein Domains
Guanylate kinase-like   PDZ   WW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86UL8-F1-model_v2 AlphaFold Q86UL8 1-1455 view protein structure

Promoters
RGD ID:7210913
Promoter ID:EPDNEW_H11201
Type:initiation region
Name:MAGI2_2
Description:membrane associated guanylate kinase, WW and PDZ domain containing2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11202  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38778,489,989 - 78,490,049EPDNEW
RGD ID:7210911
Promoter ID:EPDNEW_H11202
Type:initiation region
Name:MAGI2_1
Description:membrane associated guanylate kinase, WW and PDZ domain containing2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11201  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38779,453,661 - 79,453,721EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18957 AgrOrtholog
COSMIC MAGI2 COSMIC
Ensembl Genes ENSG00000187391 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354212 ENTREZGENE
  ENST00000354212.9 UniProtKB/Swiss-Prot
  ENST00000419488 ENTREZGENE
  ENST00000419488.5 UniProtKB/Swiss-Prot
  ENST00000519748.5 UniProtKB/TrEMBL
  ENST00000522342.3 UniProtKB/TrEMBL
  ENST00000522391 ENTREZGENE
  ENST00000522391.3 UniProtKB/TrEMBL
  ENST00000524268.1 UniProtKB/TrEMBL
  ENST00000626691 ENTREZGENE
  ENST00000626691.2 UniProtKB/TrEMBL
  ENST00000628361.1 UniProtKB/TrEMBL
  ENST00000628781.1 UniProtKB/TrEMBL
  ENST00000629359.2 UniProtKB/TrEMBL
  ENST00000630991.2 UniProtKB/TrEMBL
  ENST00000634996.1 UniProtKB/TrEMBL
  ENST00000636039.1 UniProtKB/TrEMBL
  ENST00000636178.1 UniProtKB/TrEMBL
  ENST00000636717.1 UniProtKB/TrEMBL
  ENST00000637282.1 UniProtKB/TrEMBL
  ENST00000637441.1 UniProtKB/TrEMBL
  ENST00000637486.1 UniProtKB/TrEMBL
  ENST00000637585.1 UniProtKB/TrEMBL
Gene3D-CATH 2.20.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate Kinase phosphate binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187391 GTEx
HGNC ID HGNC:18957 ENTREZGENE
Human Proteome Map MAGI2 Human Proteome Map
InterPro GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9863 UniProtKB/Swiss-Prot
NCBI Gene 9863 ENTREZGENE
OMIM 606382 OMIM
PANTHER MEMBRANE ASSOCIATED GUANYLATE KINASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10316:SF27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGI_u1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00397 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671484 PharmGKB
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00456 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SET0_HUMAN UniProtKB/TrEMBL
  A0A0D9SEY4 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SEZ7_HUMAN UniProtKB/TrEMBL
  A0A0D9SF86_HUMAN UniProtKB/TrEMBL
  A0A0D9SFP3_HUMAN UniProtKB/TrEMBL
  A0A0D9SFY9_HUMAN UniProtKB/TrEMBL
  A0A0D9SGF2_HUMAN UniProtKB/TrEMBL
  A0A0D9SGF8_HUMAN UniProtKB/TrEMBL
  A0A0U1RRH4_HUMAN UniProtKB/TrEMBL
  A0A1B0GTC0_HUMAN UniProtKB/TrEMBL
  A0A1B0GTH8_HUMAN UniProtKB/TrEMBL
  A0A1B0GUF0_HUMAN UniProtKB/TrEMBL
  A0A1B0GUI9_HUMAN UniProtKB/TrEMBL
  A0A1B0GUV4_HUMAN UniProtKB/TrEMBL
  A0A1B0GVS0_HUMAN UniProtKB/TrEMBL
  A0A1B0GVS6_HUMAN UniProtKB/TrEMBL
  A4D1C1 ENTREZGENE
  A7E2C3 ENTREZGENE
  B7Z4H4 ENTREZGENE, UniProtKB/TrEMBL
  E7EWI0_HUMAN UniProtKB/TrEMBL
  MAGI2_HUMAN UniProtKB/Swiss-Prot
  O60434 ENTREZGENE
  O60510 ENTREZGENE
  Q86UI7 ENTREZGENE
  Q86UL8 ENTREZGENE
  Q9NP44 ENTREZGENE
  Q9UDQ5 ENTREZGENE
  Q9UDU1 ENTREZGENE
UniProt Secondary A4D1C1 UniProtKB/Swiss-Prot
  A7E2C3 UniProtKB/Swiss-Prot
  O60434 UniProtKB/Swiss-Prot
  O60510 UniProtKB/Swiss-Prot
  Q86UI7 UniProtKB/Swiss-Prot
  Q9NP44 UniProtKB/Swiss-Prot
  Q9UDQ5 UniProtKB/Swiss-Prot
  Q9UDU1 UniProtKB/Swiss-Prot