MID1 (midline 1) - Rat Genome Database

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Gene: MID1 (midline 1) Homo sapiens
Analyze
Symbol: MID1
Name: midline 1
RGD ID: 732275
HGNC Page HGNC
Description: Exhibits several functions, including microtubule binding activity; protein homodimerization activity; and ubiquitin protein ligase binding activity. Involved in positive regulation of stress-activated MAPK cascade and protein localization to microtubule. Localizes to microtubule. Colocalizes with cytoplasmic microtubule. Implicated in Opitz GBBB syndrome type I.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BBBG1; E3 ubiquitin-protein ligase Midline-1; FLJ57031; FLJ58683; FLJ76288; FXY; GBBB1; MIDIN; midline 1 RING finger protein; midline-1; OGS1; Opitz/BBB syndrome; OS; OSX; putative transcription factor XPRF; RING finger protein 59; RING finger protein Midline-1; RING-type E3 ubiquitin transferase Midline-1; RNF59; TRIM18; tripartite motif protein TRIM18; tripartite motif-containing protein 18; XPRF; zinc finger on X and Y, mouse, homolog of; ZNFXY
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX10,445,310 - 10,833,654 (-)EnsemblGRCh38hg38GRCh38
GRCh38X10,445,310 - 10,833,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X10,413,350 - 10,851,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X10,373,596 - 10,761,730 (-)NCBINCBI36hg18NCBI36
Build 34X10,225,901 - 10,398,195NCBI
CeleraX14,584,610 - 14,973,762 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,245,662 - 8,632,012 (-)NCBIHuRef
CHM1_1X10,443,740 - 10,882,213 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7493033   PMID:9354791   PMID:9425238   PMID:9718340   PMID:9722948   PMID:10077590   PMID:10400985   PMID:11030761   PMID:11331580   PMID:11371618   PMID:11685209   PMID:11806752  
PMID:12408967   PMID:12411602   PMID:12477932   PMID:12545276   PMID:12798296   PMID:12833403   PMID:15057556   PMID:15070402   PMID:15489334   PMID:15558842   PMID:16344560   PMID:16378742  
PMID:16434393   PMID:16498413   PMID:16529770   PMID:17043407   PMID:17081983   PMID:17221865   PMID:17428496   PMID:17438131   PMID:17617638   PMID:17672918   PMID:18005432   PMID:18172692  
PMID:18220417   PMID:18360914   PMID:18697196   PMID:18949047   PMID:19049519   PMID:19322201   PMID:19490893   PMID:19549727   PMID:19734545   PMID:19818709   PMID:20092282   PMID:20301502  
PMID:20301753   PMID:21143188   PMID:21296087   PMID:21326312   PMID:21454489   PMID:21516116   PMID:21555591   PMID:21903422   PMID:21930711   PMID:22194938   PMID:22493164   PMID:22613722  
PMID:22829933   PMID:22939629   PMID:23334847   PMID:23443539   PMID:23740247   PMID:23791568   PMID:24321989   PMID:24484909   PMID:24913494   PMID:25207814   PMID:25216264   PMID:25278022  
PMID:25304119   PMID:25416956   PMID:25728276   PMID:25874572   PMID:25910212   PMID:25981737   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26748699   PMID:27367845   PMID:27555585  
PMID:27693496   PMID:28514442   PMID:28548391   PMID:28685749   PMID:28760657   PMID:28786561   PMID:29062069   PMID:29121065   PMID:29293623   PMID:29450633   PMID:29499308   PMID:29507755  
PMID:29509190   PMID:30450809   PMID:30732588   PMID:31515488   PMID:31586073   PMID:32296183  


Genomics

Comparative Map Data
MID1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX10,445,310 - 10,833,654 (-)EnsemblGRCh38hg38GRCh38
GRCh38X10,445,310 - 10,833,683 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X10,413,350 - 10,851,802 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X10,373,596 - 10,761,730 (-)NCBINCBI36hg18NCBI36
Build 34X10,225,901 - 10,398,195NCBI
CeleraX14,584,610 - 14,973,762 (-)NCBI
Cytogenetic MapXp22.2NCBI
HuRefX8,245,662 - 8,632,012 (-)NCBIHuRef
CHM1_1X10,443,740 - 10,882,213 (-)NCBICHM1_1
Mid1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X168,468,178 - 168,773,794 (+)NCBIGRCm39mm39
GRCm39 EnsemblX168,468,195 - 168,788,732 (+)Ensembl
GRCm38X169,685,199 - 169,990,798 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX169,685,199 - 170,005,736 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X166,123,179 - 166,428,730 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X165,029,352 - 165,344,845 (+)NCBImm8
CeleraX152,849,611 - 153,131,383 (+)NCBICelera
Cytogenetic MapXF5NCBI
cM MapX79.19NCBI
Mid1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X24,116,674 - 24,491,205 (-)NCBI
Rnor_6.0 EnsemblX25,458,771 - 25,628,272 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X25,458,782 - 25,839,941 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X25,869,975 - 26,249,296 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X44,751,950 - 44,879,999 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X44,805,418 - 44,933,468 (-)NCBI
CeleraX24,547,301 - 24,674,105 (-)NCBICelera
Cytogenetic MapXq13NCBI
Mid1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555442,484,854 - 2,719,112 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555442,379,766 - 2,718,282 (+)NCBIChiLan1.0ChiLan1.0
MID1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X10,328,476 - 10,715,914 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX10,328,476 - 10,459,284 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X3,075,834 - 3,463,845 (-)NCBIMhudiblu_PPA_v0panPan3
MID1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X7,087,890 - 7,438,553 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX7,089,831 - 7,194,267 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX7,042,862 - 7,395,336 (-)NCBI
ROS_Cfam_1.0X7,033,632 - 7,390,212 (-)NCBI
UMICH_Zoey_3.1X7,023,168 - 7,375,574 (-)NCBI
UNSW_CanFamBas_1.0X7,058,915 - 7,411,617 (-)NCBI
UU_Cfam_GSD_1.0X7,049,392 - 7,406,171 (-)NCBI
Mid1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X414,418 - 767,610 (-)NCBI
SpeTri2.0NW_004936470414,420 - 576,717 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MID1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX7,237,942 - 7,620,011 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X7,235,386 - 7,906,049 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X7,630,961 - 7,771,708 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MID1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X8,897,424 - 9,289,187 (-)NCBI
ChlSab1.1 EnsemblX8,895,602 - 9,076,871 (-)Ensembl
Mid1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248823,504,660 - 3,876,526 (+)NCBI

Position Markers
RH67856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,413,701 - 10,413,822UniSTSGRCh37
Build 36X10,373,701 - 10,373,822RGDNCBI36
CeleraX14,584,961 - 14,585,082RGD
Cytogenetic MapXp22UniSTS
HuRefX8,246,013 - 8,246,134UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
RH18198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,413,650 - 10,413,775UniSTSGRCh37
Build 36X10,373,650 - 10,373,775RGDNCBI36
CeleraX14,584,910 - 14,585,035RGD
Cytogenetic MapXp22UniSTS
HuRefX8,245,962 - 8,246,087UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
RH65583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,587,748 - 10,587,880UniSTSGRCh37
Build 36X10,547,748 - 10,547,880RGDNCBI36
CeleraX14,758,984 - 14,759,116RGD
Cytogenetic MapXp22UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
RH65878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,459,246 - 10,459,396UniSTSGRCh37
Build 36X10,419,246 - 10,419,396RGDNCBI36
CeleraX14,630,506 - 14,630,656RGD
Cytogenetic MapXp22UniSTS
HuRefX8,291,008 - 8,291,158UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
DXS7713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,508,403 - 10,508,498UniSTSGRCh37
Build 36X10,468,403 - 10,468,498RGDNCBI36
CeleraX14,679,658 - 14,679,753RGD
Cytogenetic MapXp22UniSTS
HuRefX8,340,191 - 8,340,286UniSTS
RH99148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,429,369 - 10,429,546UniSTSGRCh37
Build 36X10,389,369 - 10,389,546RGDNCBI36
CeleraX14,600,629 - 14,600,806RGD
Cytogenetic MapXp22UniSTS
HuRefX8,261,472 - 8,261,649UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
AF003639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,604,795 - 10,604,991UniSTSGRCh37
Build 36X10,564,795 - 10,564,991RGDNCBI36
CeleraX14,776,031 - 14,776,221RGD
Cytogenetic MapXp22UniSTS
HuRefX8,435,752 - 8,435,972UniSTS
AF003649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,832,597 - 10,832,793UniSTSGRCh37
Build 36X10,742,518 - 10,742,714RGDNCBI36
CeleraX14,954,549 - 14,954,745RGD
Cytogenetic MapXp22UniSTS
HuRefX8,612,799 - 8,612,995UniSTS
AF003650  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,672,679 - 10,672,887UniSTSGRCh37
Build 36X10,632,679 - 10,632,887RGDNCBI36
CeleraX14,844,704 - 14,844,912RGD
Cytogenetic MapXp22UniSTS
AF003652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,828,782 - 10,828,880UniSTSGRCh37
Build 36X10,738,703 - 10,738,801RGDNCBI36
CeleraX14,950,730 - 14,950,832RGD
Cytogenetic MapXp22UniSTS
HuRefX8,608,981 - 8,609,083UniSTS
AF003662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,484,569 - 10,484,727UniSTSGRCh37
Build 36X10,444,569 - 10,444,727RGDNCBI36
CeleraX14,655,829 - 14,655,985RGD
Cytogenetic MapXp22UniSTS
HuRefX8,316,300 - 8,316,456UniSTS
AF003663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,561,719 - 10,561,880UniSTSGRCh37
Build 36X10,521,719 - 10,521,880RGDNCBI36
CeleraX14,732,957 - 14,733,118RGD
Cytogenetic MapXp22UniSTS
HuRefX8,393,783 - 8,393,944UniSTS
AF003670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,429,067 - 10,429,235UniSTSGRCh37
Build 36X10,389,067 - 10,389,235RGDNCBI36
CeleraX14,600,327 - 14,600,495RGD
Cytogenetic MapXp22UniSTS
HuRefX8,261,173 - 8,261,339UniSTS
AF003673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,653,126 - 10,653,286UniSTSGRCh37
Build 36X10,613,126 - 10,613,286RGDNCBI36
CeleraX14,825,148 - 14,825,308RGD
Cytogenetic MapXp22UniSTS
HuRefX8,483,745 - 8,483,905UniSTS
AF003674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,707,246 - 10,707,488UniSTSGRCh37
Build 36X10,667,246 - 10,667,488RGDNCBI36
CeleraX14,879,271 - 14,879,513RGD
Cytogenetic MapXp22UniSTS
HuRefX8,537,548 - 8,537,790UniSTS
AF003675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,797,145 - 10,797,302UniSTSGRCh37
Build 36X10,707,066 - 10,707,223RGDNCBI36
CeleraX14,919,092 - 14,919,249RGD
Cytogenetic MapXp22UniSTS
HuRefX8,577,376 - 8,577,533UniSTS
AF003676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,835,022 - 10,835,222UniSTSGRCh37
Build 36X10,744,943 - 10,745,143RGDNCBI36
CeleraX14,956,974 - 14,957,174RGD
Cytogenetic MapXp22UniSTS
HuRefX8,615,224 - 8,615,424UniSTS
AF003677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,794,316 - 10,794,504UniSTSGRCh37
Build 36X10,704,237 - 10,704,425RGDNCBI36
CeleraX14,916,261 - 14,916,449RGD
Cytogenetic MapXp22UniSTS
HuRefX8,574,545 - 8,574,733UniSTS
AF003682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,432,810 - 10,432,948UniSTSGRCh37
Build 36X10,392,810 - 10,392,948RGDNCBI36
CeleraX14,604,070 - 14,604,208RGD
Cytogenetic MapXp22UniSTS
HuRefX8,264,913 - 8,265,051UniSTS
AF003683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,470,344 - 10,470,553UniSTSGRCh37
Build 36X10,430,344 - 10,430,553RGDNCBI36
CeleraX14,641,604 - 14,641,813RGD
Cytogenetic MapXp22UniSTS
HuRefX8,302,209 - 8,302,418UniSTS
AF003684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,482,076 - 10,482,370UniSTSGRCh37
Build 36X10,442,076 - 10,442,370RGDNCBI36
CeleraX14,653,336 - 14,653,630RGD
Cytogenetic MapXp22UniSTS
HuRefX8,313,807 - 8,314,101UniSTS
AF003686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,629,988 - 10,630,076UniSTSGRCh37
Build 36X10,589,988 - 10,590,076RGDNCBI36
CeleraX14,801,218 - 14,801,306RGD
Cytogenetic MapXp22UniSTS
HuRefX8,460,761 - 8,460,849UniSTS
AF003689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,843,992 - 10,844,341UniSTSGRCh37
Build 36X10,753,913 - 10,754,262RGDNCBI36
CeleraX14,965,945 - 14,966,294RGD
Cytogenetic MapXp22UniSTS
HuRefX8,624,195 - 8,624,544UniSTS
DXS1438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,815,000 - 10,815,193UniSTSGRCh37
Build 36X10,724,921 - 10,725,114RGDNCBI36
CeleraX14,936,948 - 14,937,141RGD
Cytogenetic MapXp22UniSTS
HuRefX8,595,198 - 8,595,391UniSTS
DXS7916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,713,626 - 10,713,696UniSTSGRCh37
Build 36X10,673,626 - 10,673,696RGDNCBI36
CeleraX14,885,651 - 14,885,721RGD
Cytogenetic MapXp22UniSTS
HuRefX8,543,928 - 8,543,998UniSTS
UniSTS:99542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,645,216 - 10,645,314UniSTSGRCh37
Build 36X10,605,216 - 10,605,314RGDNCBI36
CeleraX14,817,241 - 14,817,339RGD
HuRefX8,475,838 - 8,475,936UniSTS
SHGC-83251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,612,796 - 10,613,072UniSTSGRCh37
Build 36X10,572,796 - 10,573,072RGDNCBI36
CeleraX14,784,026 - 14,784,302RGD
Cytogenetic MapXp22UniSTS
HuRefX8,443,570 - 8,443,846UniSTS
SHGC-84226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,819,083 - 10,819,378UniSTSGRCh37
Build 36X10,729,004 - 10,729,299RGDNCBI36
CeleraX14,941,031 - 14,941,326RGD
Cytogenetic MapXp22UniSTS
HuRefX8,599,281 - 8,599,576UniSTS
TNG Radiation Hybrid Map76374.0UniSTS
RH120215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,724,763 - 10,725,112UniSTSGRCh37
Build 36X10,684,763 - 10,685,112RGDNCBI36
CeleraX14,896,788 - 14,897,137RGD
Cytogenetic MapXp22UniSTS
HuRefX8,555,233 - 8,555,582UniSTS
STS-AA026423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,413,802 - 10,414,020UniSTSGRCh37
Build 36X10,373,802 - 10,374,020RGDNCBI36
CeleraX14,585,062 - 14,585,280RGD
Cytogenetic MapXp22UniSTS
HuRefX8,246,114 - 8,246,332UniSTS
GeneMap99-GB4 RH MapX83.98UniSTS
NCBI RH MapX10.0UniSTS
PMC15848P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,417,470 - 10,417,805UniSTSGRCh37
Build 36X10,377,470 - 10,377,805RGDNCBI36
CeleraX14,588,730 - 14,589,065RGD
Cytogenetic MapXp22UniSTS
HuRefX8,249,782 - 8,250,117UniSTS
MID1__6312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,416,132 - 10,416,880UniSTSGRCh37
Build 36X10,376,132 - 10,376,880RGDNCBI36
CeleraX14,587,392 - 14,588,140RGD
HuRefX8,248,444 - 8,249,192UniSTS
A004G38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,416,198 - 10,416,449UniSTSGRCh37
Build 36X10,376,198 - 10,376,449RGDNCBI36
CeleraX14,587,458 - 14,587,709RGD
Cytogenetic MapXp22UniSTS
HuRefX8,248,510 - 8,248,761UniSTS
GeneMap99-GB4 RH MapX85.38UniSTS
NCBI RH MapX10.0UniSTS
HSC1ZH102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,416,256 - 10,416,472UniSTSGRCh37
Build 36X10,376,256 - 10,376,472RGDNCBI36
CeleraX14,587,516 - 14,587,732RGD
Cytogenetic MapXp22UniSTS
HuRefX8,248,568 - 8,248,784UniSTS
Whitehead-RH MapX7.7UniSTS
SHGC-36657  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,416,203 - 10,416,313UniSTSGRCh37
Build 36X10,376,203 - 10,376,313RGDNCBI36
CeleraX14,587,463 - 14,587,573RGD
Cytogenetic MapXp22UniSTS
HuRefX8,248,515 - 8,248,625UniSTS
MID1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X10,535,339 - 10,535,558UniSTSGRCh37
CeleraX14,706,583 - 14,706,802UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:11738
Count of miRNA genes:1413
Interacting mature miRNAs:1842
Transcripts:ENST00000317552, ENST00000380779, ENST00000380780, ENST00000380782, ENST00000380785, ENST00000380787, ENST00000413894, ENST00000423614, ENST00000453318, ENST00000479925
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 739 421 145 47 40 44 434 70 535 188 493 456 15 79 127
Low 1687 1780 1557 557 611 402 3375 1549 3166 224 953 1149 158 1 1125 2117 4
Below cutoff 5 728 24 18 1198 19 546 574 31 7 8 4 1 544

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001347733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF041206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF041208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF041210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF269101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI371111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY112903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY539999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY540024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY660579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA435613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA856308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC309977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC369426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF217423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF217424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF217425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF217426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF532594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF532595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF532596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U96409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000317552   ⟹   ENSP00000312678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,556 - 10,620,585 (-)Ensembl
RefSeq Acc Id: ENST00000380779   ⟹   ENSP00000370156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,556 - 10,576,955 (-)Ensembl
RefSeq Acc Id: ENST00000380780   ⟹   ENSP00000370157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,556 - 10,589,909 (-)Ensembl
RefSeq Acc Id: ENST00000380782   ⟹   ENSP00000370159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,448,106 - 10,620,419 (-)Ensembl
RefSeq Acc Id: ENST00000380785   ⟹   ENSP00000370162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,556 - 10,833,643 (-)Ensembl
RefSeq Acc Id: ENST00000380787   ⟹   ENSP00000370164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,556 - 10,833,654 (-)Ensembl
RefSeq Acc Id: ENST00000413894   ⟹   ENSP00000391154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,455,075 - 10,677,687 (-)Ensembl
RefSeq Acc Id: ENST00000453318   ⟹   ENSP00000414521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,445,310 - 10,677,739 (-)Ensembl
RefSeq Acc Id: ENST00000479925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,449,464 - 10,460,042 (-)Ensembl
RefSeq Acc Id: ENST00000610939   ⟹   ENSP00000483707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,505,345 - 10,567,603 (-)Ensembl
RefSeq Acc Id: ENST00000616003   ⟹   ENSP00000484712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,469,265 - 10,567,603 (-)Ensembl
RefSeq Acc Id: ENST00000674917   ⟹   ENSP00000502171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,449,390 - 10,565,072 (-)Ensembl
RefSeq Acc Id: ENST00000675073   ⟹   ENSP00000501707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,449,212 - 10,567,603 (-)Ensembl
RefSeq Acc Id: ENST00000675358   ⟹   ENSP00000502220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX10,482,480 - 10,565,111 (-)Ensembl
RefSeq Acc Id: NM_000381   ⟹   NP_000372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,556 - 10,620,585 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
Build 36X10,373,596 - 10,548,674 (-)NCBI Archive
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,443,740 - 10,619,060 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001098624   ⟹   NP_001092094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,310 - 10,677,739 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
Build 36X10,373,596 - 10,605,779 (-)NCBI Archive
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,443,740 - 10,676,169 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193277   ⟹   NP_001180206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,310 - 10,576,917 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,443,740 - 10,575,346 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193278   ⟹   NP_001180207
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,469,265 - 10,567,603 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
GRCh37X10,865,880 - 11,129,272 (-)NCBI
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,467,695 - 10,566,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193279   ⟹   NP_001180208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,469,265 - 10,567,603 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
GRCh37X10,865,880 - 11,129,272 (-)NCBI
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,467,695 - 10,566,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001193280   ⟹   NP_001180209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,469,265 - 10,567,603 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,467,695 - 10,566,036 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001347733   ⟹   NP_001334662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,310 - 10,589,960 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033289   ⟹   NP_150631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,310 - 10,620,585 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,443,740 - 10,619,060 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033290   ⟹   NP_150632
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,445,310 - 10,833,683 (-)NCBI
GRCh37X10,413,350 - 10,851,829 (-)NCBI
Build 36X10,373,596 - 10,761,730 (-)NCBI Archive
HuRefX8,245,662 - 8,632,012 (-)ENTREZGENE
CHM1_1X10,443,740 - 10,882,213 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_150632   ⟸   NM_033290
- Peptide Label: isoform 1
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A024RBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001092094   ⟸   NM_001098624
- Peptide Label: isoform 1
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A024RBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180206   ⟸   NM_001193277
- Peptide Label: isoform 1
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A024RBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_150631   ⟸   NM_033289
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_000372   ⟸   NM_000381
- Peptide Label: isoform 1
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A024RBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180209   ⟸   NM_001193280
- Peptide Label: isoform 5
- UniProtKB: O15344 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180208   ⟸   NM_001193279
- Peptide Label: isoform 4
- UniProtKB: O15344 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001180207   ⟸   NM_001193278
- Peptide Label: isoform 3
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A087X255 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001334662   ⟸   NM_001347733
- Peptide Label: isoform 1
- UniProtKB: O15344 (UniProtKB/Swiss-Prot),   A0A024RBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000391154   ⟸   ENST00000413894
RefSeq Acc Id: ENSP00000483707   ⟸   ENST00000610939
RefSeq Acc Id: ENSP00000414521   ⟸   ENST00000453318
RefSeq Acc Id: ENSP00000484712   ⟸   ENST00000616003
RefSeq Acc Id: ENSP00000370156   ⟸   ENST00000380779
RefSeq Acc Id: ENSP00000370162   ⟸   ENST00000380785
RefSeq Acc Id: ENSP00000370159   ⟸   ENST00000380782
RefSeq Acc Id: ENSP00000370157   ⟸   ENST00000380780
RefSeq Acc Id: ENSP00000370164   ⟸   ENST00000380787
RefSeq Acc Id: ENSP00000312678   ⟸   ENST00000317552
RefSeq Acc Id: ENSP00000502171   ⟸   ENST00000674917
RefSeq Acc Id: ENSP00000502220   ⟸   ENST00000675358
RefSeq Acc Id: ENSP00000501707   ⟸   ENST00000675073
Promoters
RGD ID:6808684
Promoter ID:HG_KWN:65983
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000380782,   NM_000381,   OTTHUMT00000055735,   UC004CTH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X10,548,091 - 10,548,591 (-)MPROMDB
RGD ID:13604714
Promoter ID:EPDNEW_H28541
Type:initiation region
Name:MID1_4
Description:midline 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28542  EPDNEW_H28543  EPDNEW_H28544  EPDNEW_H28545  EPDNEW_H28546  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,576,917 - 10,576,977EPDNEW
RGD ID:13604716
Promoter ID:EPDNEW_H28542
Type:multiple initiation site
Name:MID1_5
Description:midline 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28541  EPDNEW_H28543  EPDNEW_H28544  EPDNEW_H28545  EPDNEW_H28546  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,589,960 - 10,590,020EPDNEW
RGD ID:13604718
Promoter ID:EPDNEW_H28543
Type:initiation region
Name:MID1_1
Description:midline 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28541  EPDNEW_H28542  EPDNEW_H28544  EPDNEW_H28545  EPDNEW_H28546  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,620,568 - 10,620,628EPDNEW
RGD ID:13604720
Promoter ID:EPDNEW_H28544
Type:initiation region
Name:MID1_2
Description:midline 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28541  EPDNEW_H28542  EPDNEW_H28543  EPDNEW_H28545  EPDNEW_H28546  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,833,654 - 10,833,714EPDNEW
RGD ID:13604722
Promoter ID:EPDNEW_H28545
Type:initiation region
Name:MID1_6
Description:midline 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28541  EPDNEW_H28542  EPDNEW_H28543  EPDNEW_H28544  EPDNEW_H28546  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X10,833,939 - 10,833,999EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) single nucleotide variant Opitz GBBB syndrome, type I [RCV000022867] ChrX:10523136 [GRCh38]
ChrX:10491176 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) single nucleotide variant Opitz GBBB syndrome, type I [RCV000659854]|not provided [RCV000627230] ChrX:10455042 [GRCh38]
ChrX:10423082 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1282G>A (p.Val428Ile) single nucleotide variant not provided [RCV000729030] ChrX:10469700 [GRCh38]
ChrX:10437740 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) microsatellite Opitz GBBB syndrome, type I [RCV000011552] ChrX:10459777..10459779 [GRCh38]
ChrX:10427817..10427819 [GRCh37]
ChrX:Xp22.2
pathogenic
MID1, 24-BP DUP duplication Opitz GBBB syndrome, type I [RCV000011553] ChrX:Xp22 pathogenic
NM_000381.4(MID1):c.1558dup (p.Glu520fs) duplication Opitz GBBB syndrome, type I [RCV000011554] ChrX:10454966..10454967 [GRCh38]
ChrX:10423006..10423007 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) single nucleotide variant Opitz GBBB syndrome, type I [RCV000011555] ChrX:10449495 [GRCh38]
ChrX:10417535 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) single nucleotide variant Opitz GBBB syndrome, type I [RCV000011556] ChrX:10567205 [GRCh38]
ChrX:10535245 [GRCh37]
ChrX:Xp22.2
pathogenic
MID1, EX1 DUP duplication Opitz GBBB syndrome, type I [RCV000011557] ChrX:Xp22 pathogenic
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) single nucleotide variant Opitz GBBB syndrome, type I [RCV000011558] ChrX:10482609 [GRCh38]
ChrX:10450649 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) microsatellite Inborn genetic diseases [RCV001266261]|Opitz GBBB syndrome, type I [RCV000011559] ChrX:10454978..10454979 [GRCh38]
ChrX:10423018..10423019 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:7992018-14435892)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052361]|See cases [RCV000052361] ChrX:7992018..14435892 [GRCh38]
ChrX:7960059..14454014 [GRCh37]
ChrX:7920059..14363935 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2 copy number gain See cases [RCV000052362] ChrX:9038047..16646589 [GRCh38]
ChrX:9006088..16664712 [GRCh37]
ChrX:8966088..16574633 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 copy number gain See cases [RCV000052363] ChrX:10759076..11065570 [GRCh38]
ChrX:10727116..11083690 [GRCh37]
ChrX:10687116..10993611 [NCBI36]
ChrX:Xp22.2
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:8327550-10980235)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053056]|See cases [RCV000053056] ChrX:8327550..10980235 [GRCh38]
ChrX:8295591..10998355 [GRCh37]
ChrX:8255591..10908276 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9540020-13128124)x1 copy number loss See cases [RCV000053057] ChrX:9540020..13128124 [GRCh38]
ChrX:9508060..13146243 [GRCh37]
ChrX:9468060..13056164 [NCBI36]
ChrX:Xp22.31-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Opitz-Frias syndrome [RCV000173680] ChrX:10417613..10417614 [GRCh37] pathogenic
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 copy number gain See cases [RCV000054140] ChrX:10433348..10502326 [GRCh38]
ChrX:10401388..10470366 [GRCh37]
ChrX:10361388..10430366 [NCBI36]
ChrX:Xp22.2
likely benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000381.4(MID1):c.1454del (p.Pro485fs) deletion Opitz GBBB syndrome, type I [RCV000659853] ChrX:10455071 [GRCh38]
ChrX:10423111 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) single nucleotide variant Opitz GBBB syndrome, type I [RCV000659857] ChrX:10449647 [GRCh38]
ChrX:10417687 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000381.4(MID1):c.1354G>A (p.Gly452Ser) single nucleotide variant not provided [RCV000657884] ChrX:10459739 [GRCh38]
ChrX:10427779 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.757-1G>C single nucleotide variant Opitz GBBB syndrome, type I [RCV000659848] ChrX:10495692 [GRCh38]
ChrX:10463732 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.922del (p.Arg308fs) deletion Opitz GBBB syndrome, type I [RCV000659850] ChrX:10482571 [GRCh38]
ChrX:10450611 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) single nucleotide variant Dandy-Walker syndrome [RCV001263107]|Opitz GBBB syndrome, type I [RCV000659849]|not provided [RCV001007969] ChrX:10495619 [GRCh38]
ChrX:10463659 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) single nucleotide variant Opitz GBBB syndrome, type I [RCV000659858] ChrX:10449491 [GRCh38]
ChrX:10417531 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) single nucleotide variant Opitz GBBB syndrome, type I [RCV000659852] ChrX:10459700 [GRCh38]
ChrX:10427740 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) single nucleotide variant Opitz GBBB syndrome, type I [RCV000659856] ChrX:10449709 [GRCh38]
ChrX:10417749 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) duplication Opitz GBBB syndrome, type I [RCV000659855] ChrX:10454913..10454914 [GRCh38]
ChrX:10422953..10422954 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1230C>T (p.Ser410=) single nucleotide variant History of neurodevelopmental disorder [RCV000716045]|not specified [RCV000078675] ChrX:10469752 [GRCh38]
ChrX:10437792 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000381.4(MID1):c.1299G>A (p.Ser433=) single nucleotide variant not provided [RCV000909400]|not specified [RCV000078676] ChrX:10459794 [GRCh38]
ChrX:10427834 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) single nucleotide variant not provided [RCV000078677] ChrX:10449709 [GRCh38]
ChrX:10417749 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1798dup (p.His600fs) duplication Opitz GBBB syndrome, type I [RCV000173680]|not provided [RCV000790799] ChrX:10449573..10449574 [GRCh38]
ChrX:10417613..10417614 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) single nucleotide variant not provided [RCV000078679] ChrX:10449384 [GRCh38]
ChrX:10417424 [GRCh37]
ChrX:Xp22.2
conflicting interpretations of pathogenicity|uncertain significance
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000716337]|Opitz GBBB syndrome, type I [RCV000659859]|not provided [RCV000950878]|not specified [RCV000078680] ChrX:10449372 [GRCh38]
ChrX:10417412 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000381.4(MID1):c.498G>A (p.Pro166=) single nucleotide variant History of neurodevelopmental disorder [RCV000717006]|not provided [RCV000974377]|not specified [RCV000078681] ChrX:10567050 [GRCh38]
ChrX:10535090 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000381.4(MID1):c.783del (p.Lys261fs) deletion not provided [RCV000178081] ChrX:10495665 [GRCh38]
ChrX:10463705 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.861G>A (p.Gly287=) single nucleotide variant History of neurodevelopmental disorder [RCV000721017]|not provided [RCV000893089]|not specified [RCV000078683] ChrX:10495587 [GRCh38]
ChrX:10463627 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.947C>A (p.Ala316Glu) single nucleotide variant not provided [RCV000078684] ChrX:10482546 [GRCh38]
ChrX:10450586 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.75C>T (p.Cys25=) single nucleotide variant History of neurodevelopmental disorder [RCV000720945]|not provided [RCV000957471]|not specified [RCV000117621] ChrX:10567473 [GRCh38]
ChrX:10535513 [GRCh37]
ChrX:Xp22.2
benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.476A>G (p.His159Arg) single nucleotide variant Opitz GBBB syndrome, type I [RCV001332393] ChrX:10567072 [GRCh38]
ChrX:10535112 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.588C>G (p.Ala196=) single nucleotide variant History of neurodevelopmental disorder [RCV000719676]|not provided [RCV000893171]|not specified [RCV000175591] ChrX:10566960 [GRCh38]
ChrX:10535000 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000381.4(MID1):c.661-22_661-21dup duplication not provided [RCV000224077]|not specified [RCV000177053] ChrX:10523193..10523194 [GRCh38]
ChrX:10491233..10491234 [GRCh37]
ChrX:Xp22.2
benign|conflicting interpretations of pathogenicity
NM_033290.3(MID1):c.661-7dupT duplication not specified [RCV000177054] ChrX:10523193..10523194 [GRCh38]
ChrX:10491234 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.1444_1447dup (p.Ser483fs) duplication not provided [RCV000180149] ChrX:10459645..10459646 [GRCh38]
ChrX:10427685..10427686 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_033290.3(MID1):c.1305_1306insTGAT (p.Ser436Terfs) insertion Opitz-Frias syndrome [RCV000180150] ChrX:10459787..10459788 [GRCh38]
ChrX:10427827..10427828 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1266C>T (p.Thr422=) single nucleotide variant not provided [RCV000879005]|not specified [RCV000179754] ChrX:10469716 [GRCh38]
ChrX:10437756 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.757-5745G>A single nucleotide variant not provided [RCV000513772] ChrX:10501436 [GRCh38]
ChrX:10469476 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.1767T>C (p.Asn589=) single nucleotide variant not provided [RCV000173681] ChrX:10449605 [GRCh38]
ChrX:10417645 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:10792013-10806827)x2 copy number gain See cases [RCV000134746] ChrX:10792013..10806827 [GRCh38]
ChrX:10810132..10824946 [GRCh37]
ChrX:10720053..10734867 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x2 copy number gain See cases [RCV000135761] ChrX:10433348..10502326 [GRCh38]
ChrX:10401388..10470366 [GRCh37]
ChrX:10361388..10430366 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:10181602-10812117)x2 copy number gain See cases [RCV000135604] ChrX:10181602..10812117 [GRCh38]
ChrX:10149642..10830236 [GRCh37]
ChrX:10109642..10740157 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.2(chrX:10764623-10923531)x2 copy number gain See cases [RCV000137710] ChrX:10764623..10923531 [GRCh38]
ChrX:10732663..10941651 [GRCh37]
ChrX:10692663..10851572 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1 copy number loss See cases [RCV000137753] ChrX:9239101..16721153 [GRCh38]
ChrX:9207141..16739276 [GRCh37]
ChrX:9167141..16649197 [NCBI36]
ChrX:Xp22.31-22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:10791922-10923531)x3 copy number gain See cases [RCV000137870] ChrX:10791922..10923531 [GRCh38]
ChrX:10810041..10941651 [GRCh37]
ChrX:10719962..10851572 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2(chrX:10427226-10504306)x3 copy number gain See cases [RCV000143583] ChrX:10427226..10504306 [GRCh38]
ChrX:10395266..10472346 [GRCh37]
ChrX:10355266..10432346 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.2(chrX:10544684-11145505)x2 copy number gain See cases [RCV000143592] ChrX:10544684..11145505 [GRCh38]
ChrX:10512724..11163625 [GRCh37]
ChrX:10472724..11073546 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2(chrX:10433348-10502326)x3 copy number gain See cases [RCV000148127] ChrX:10433348..10502326 [GRCh38]
ChrX:10401388..10470366 [GRCh37]
ChrX:10361388..10430366 [NCBI36]
ChrX:Xp22.2
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.99C>T (p.Cys33=) single nucleotide variant not provided [RCV000153498] ChrX:10567449 [GRCh38]
ChrX:10535489 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1302_1305dup (p.Ser436Ter) duplication not provided [RCV000180150] ChrX:10459787..10459788 [GRCh38]
ChrX:10427827..10427828 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.849_854del (p.Ile284_Lys285del) deletion not provided [RCV000153502] ChrX:10495594..10495599 [GRCh38]
ChrX:10463634..10463639 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_033290.3(MID1):c.-57+73191A>G single nucleotide variant Lung cancer [RCV000102164] ChrX:10760363 [GRCh38]
ChrX:10728403 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.342C>T (p.Ala114=) single nucleotide variant not provided [RCV000897854]|not specified [RCV000193951] ChrX:10567206 [GRCh38]
ChrX:10535246 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_000381.4(MID1):c.420C>G (p.Ser140=) single nucleotide variant not specified [RCV000195165] ChrX:10567128 [GRCh38]
ChrX:10535168 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1489C>T (p.Leu497=) single nucleotide variant not provided [RCV000913916]|not specified [RCV000195281] ChrX:10455036 [GRCh38]
ChrX:10423076 [GRCh37]
ChrX:Xp22.2
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000381.4(MID1):c.1537T>C (p.Ser513Pro) single nucleotide variant not provided [RCV000180496] ChrX:10454988 [GRCh38]
ChrX:10423028 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) single nucleotide variant not specified [RCV000180497] ChrX:10454964 [GRCh38]
ChrX:10423004 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.1510T>C (p.Leu504=) single nucleotide variant not specified [RCV000192756] ChrX:10455015 [GRCh38]
ChrX:10423055 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.661-8_661-7del deletion not specified [RCV000193928] ChrX:10523194..10523195 [GRCh38]
ChrX:10491234..10491235 [GRCh37]
ChrX:Xp22.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.756+5G>A single nucleotide variant not provided [RCV000579330] ChrX:10523087 [GRCh38]
ChrX:10491127 [GRCh37]
ChrX:Xp22.2
pathogenic
Single allele insertion not provided [RCV000224077] ChrX:10491233..10491234 [GRCh37] benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) single nucleotide variant Inborn genetic diseases [RCV000623346]|Opitz GBBB syndrome, type I [RCV000659851] ChrX:10459732 [GRCh38]
ChrX:10427772 [GRCh37]
ChrX:Xp22.2
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.1414_1419dup (p.Arg472_Ser473dup) duplication not provided [RCV000282397] ChrX:10459673..10459674 [GRCh38]
ChrX:10427713..10427714 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1562G>A (p.Arg521His) single nucleotide variant not provided [RCV000490086] ChrX:10454963 [GRCh38]
ChrX:10423003 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_033290.3(MID1):c.1656-8_1657delTTCCGCAGGT deletion not provided [RCV000591725] ChrX:10449715..10449724 [GRCh38]
ChrX:10417755..10417764 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1698A>G (p.Glu566=) single nucleotide variant History of neurodevelopmental disorder [RCV000715593]|not provided [RCV000914615]|not specified [RCV000597546] ChrX:10449674 [GRCh38]
ChrX:10417714 [GRCh37]
ChrX:Xp22.2
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:10851227-10978163)x3 copy number gain See cases [RCV000446247] ChrX:10851227..10978163 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2(chrX:10391201-10487867)x2 copy number gain See cases [RCV000445883] ChrX:10391201..10487867 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg) single nucleotide variant not provided [RCV000440069] ChrX:10449693 [GRCh38]
ChrX:10417733 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10842514-10978163)x3 copy number gain See cases [RCV000445995] ChrX:10842514..10978163 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.2(chrX:10299643-10638042) copy number loss Abnormality of esophagus morphology [RCV000416652] ChrX:10299643..10638042 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.340G>A (p.Ala114Thr) single nucleotide variant not provided [RCV000478970] ChrX:10567208 [GRCh38]
ChrX:10535248 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000381.4(MID1):c.1695T>C (p.His565=) single nucleotide variant not provided [RCV000898406]|not specified [RCV000501627] ChrX:10449677 [GRCh38]
ChrX:10417717 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.567C>T (p.Thr189=) single nucleotide variant not specified [RCV000501744] ChrX:10566981 [GRCh38]
ChrX:10535021 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.229G>A (p.Val77Ile) single nucleotide variant not specified [RCV000499934] ChrX:10567319 [GRCh38]
ChrX:10535359 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_033290.4(MID1):c.1541_1543AGA[1] (p.Lys515del) microsatellite not specified [RCV000503522] ChrX:10454979..10454981 [GRCh38]
ChrX:10423019..10423021 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000381.4(MID1):c.34A>G (p.Ile12Val) single nucleotide variant not specified [RCV000500062] ChrX:10567514 [GRCh38]
ChrX:10535554 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.2(chrX:10533428-10669918)x0 copy number loss See cases [RCV000510612] ChrX:10533428..10669918 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10810471-11339263)x3 copy number gain See cases [RCV000511422] ChrX:10810471..11339263 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.1765A>G (p.Asn589Asp) single nucleotide variant Hypertelorism [RCV000626680] ChrX:10449607 [GRCh38]
ChrX:10417647 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000381.4(MID1):c.757-5831A>G single nucleotide variant Opitz GBBB syndrome, type I [RCV000626263] ChrX:10501522 [GRCh38]
ChrX:10469562 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:10469305-10700156)x3 copy number gain See cases [RCV000512408] ChrX:10469305..10700156 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.1342T>C (p.Tyr448His) single nucleotide variant History of neurodevelopmental disorder [RCV000719817] ChrX:10459751 [GRCh38]
ChrX:10427791 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10381839-10487986)x2 copy number gain not provided [RCV000684268] ChrX:10381839..10487986 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:10818107-11070209)x1 copy number loss not provided [RCV000684269] ChrX:10818107..11070209 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10830655-11053979)x2 copy number gain not provided [RCV000684270] ChrX:10830655..11053979 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10843658-11016962)x3 copy number gain not provided [RCV000684271] ChrX:10843658..11016962 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.1605T>C (p.Phe535=) single nucleotide variant History of neurodevelopmental disorder [RCV000715199] ChrX:10454920 [GRCh38]
ChrX:10422960 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.1074A>G (p.Thr358=) single nucleotide variant History of neurodevelopmental disorder [RCV000717962] ChrX:10474690 [GRCh38]
ChrX:10442730 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.250G>A (p.Asp84Asn) single nucleotide variant History of neurodevelopmental disorder [RCV000719152]|not provided [RCV000899331] ChrX:10567298 [GRCh38]
ChrX:10535338 [GRCh37]
ChrX:Xp22.2
likely benign|uncertain significance
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) single nucleotide variant History of neurodevelopmental disorder [RCV000718666]|not provided [RCV000900781] ChrX:10469740 [GRCh38]
ChrX:10437780 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2(chrX:9822921-10818845)x2 copy number gain not provided [RCV000753375] ChrX:9822921..10818845 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:10525394-10530851)x0 copy number loss not provided [RCV000753377] ChrX:10525394..10530851 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:10530487-10530851)x0 copy number loss not provided [RCV000753378] ChrX:10530487..10530851 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:10530487-10535838)x0 copy number loss not provided [RCV000753379] ChrX:10530487..10535838 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000381.4(MID1):c.370C>G (p.Gln124Glu) single nucleotide variant not provided [RCV000999318] ChrX:10567178 [GRCh38]
ChrX:10535218 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1917del (p.Thr640fs) deletion Opitz GBBB syndrome, type I [RCV000754789] ChrX:10449455 [GRCh38]
ChrX:10417495 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV000950300] ChrX:10567246 [GRCh38]
ChrX:10535286 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2(chrX:10462005-10485205)x0 copy number loss not provided [RCV001007258] ChrX:10462005..10485205 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1888G>A (p.Asp630Asn) single nucleotide variant not specified [RCV000780411] ChrX:10449484 [GRCh38]
ChrX:10417524 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
NM_000381.4(MID1):c.107G>A (p.Arg36His) single nucleotide variant Opitz GBBB syndrome, type I [RCV001095776] ChrX:10567441 [GRCh38]
ChrX:10535481 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.2(chrX:10837884-10976309)x2 copy number gain not provided [RCV000847409] ChrX:10837884..10976309 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1495G>A (p.Val499Met) single nucleotide variant Opitz GBBB syndrome, type I [RCV000850391] ChrX:10455030 [GRCh38]
ChrX:10423070 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000381.4(MID1):c.642G>A (p.Glu214=) single nucleotide variant not provided [RCV000892128] ChrX:10566906 [GRCh38]
ChrX:10534946 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.900A>G (p.Ala300=) single nucleotide variant not provided [RCV000915400] ChrX:10482593 [GRCh38]
ChrX:10450633 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
NM_000381.4(MID1):c.2001G>A (p.Pro667=) single nucleotide variant not provided [RCV001172199] ChrX:10449371 [GRCh38]
ChrX:10417411 [GRCh37]
ChrX:Xp22.2
likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000381.4(MID1):c.807C>T (p.Leu269=) single nucleotide variant not provided [RCV000999317] ChrX:10495641 [GRCh38]
ChrX:10463681 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.388G>A (p.Ala130Thr) single nucleotide variant Opitz GBBB syndrome, type I [RCV001249712] ChrX:10567160 [GRCh38]
ChrX:10535200 [GRCh37]
ChrX:Xp22.2
likely pathogenic
NM_000381.4(MID1):c.1785T>C (p.Ile595=) single nucleotide variant not provided [RCV000941754] ChrX:10449587 [GRCh38]
ChrX:10417627 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.948G>A (p.Ala316=) single nucleotide variant not provided [RCV000925923] ChrX:10482545 [GRCh38]
ChrX:10450585 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.1968C>T (p.Ile656=) single nucleotide variant not provided [RCV000933383] ChrX:10449404 [GRCh38]
ChrX:10417444 [GRCh37]
ChrX:Xp22.2
benign
NM_000381.4(MID1):c.1013+9A>G single nucleotide variant not provided [RCV000884850] ChrX:10482471 [GRCh38]
ChrX:10450511 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.130A>G (p.Thr44Ala) single nucleotide variant not provided [RCV000934974] ChrX:10567418 [GRCh38]
ChrX:10535458 [GRCh37]
ChrX:Xp22.2
likely benign
NM_000381.4(MID1):c.661-6_661-5insT insertion not provided [RCV000890947] ChrX:10523192..10523193 [GRCh38]
ChrX:10491232..10491233 [GRCh37]
ChrX:Xp22.2
benign
GRCh37/hg19 Xp22.2(chrX:10628212-11011701)x3 copy number gain not provided [RCV001007259] ChrX:10628212..11011701 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1270C>T (p.Gln424Ter) single nucleotide variant not provided [RCV001093290] ChrX:10469712 [GRCh38]
ChrX:10437752 [GRCh37]
ChrX:Xp22.2
pathogenic
GRCh37/hg19 Xp22.2(chrX:10808859-10944154)x2 copy number gain not provided [RCV001007260] ChrX:10808859..10944154 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.2(chrX:10557835-10696942)x3 copy number gain not provided [RCV001259463] ChrX:10557835..10696942 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10843952-11016962)x2 copy number gain not provided [RCV001260008] ChrX:10843952..11016962 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2 copy number gain See cases [RCV001264398] ChrX:10578932..11326337 [GRCh37]
ChrX:Xp22.2
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.1655+1G>A single nucleotide variant Opitz GBBB syndrome, type I [RCV001261288] ChrX:10454869 [GRCh38]
ChrX:10422909 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3 copy number gain not provided [RCV001259461] ChrX:10478359..15357092 [GRCh37]
ChrX:Xp22.2
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000381.4(MID1):c.1619_1638del (p.Arg540fs) deletion not provided [RCV001281627] ChrX:10454887..10454906 [GRCh38]
ChrX:10422927..10422946 [GRCh37]
ChrX:Xp22.2
pathogenic
NM_000381.4(MID1):c.1279G>A (p.Val427Ile) single nucleotide variant not provided [RCV001281559] ChrX:10469703 [GRCh38]
ChrX:10437743 [GRCh37]
ChrX:Xp22.2
uncertain significance
NM_000381.4(MID1):c.1142-1G>T single nucleotide variant Opitz GBBB syndrome, type I [RCV001270717] ChrX:10469841 [GRCh38]
ChrX:10437881 [GRCh37]
ChrX:Xp22.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7095 AgrOrtholog
COSMIC MID1 COSMIC
Ensembl Genes ENSG00000101871 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312678 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370157 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370159 UniProtKB/Swiss-Prot
  ENSP00000370162 UniProtKB/Swiss-Prot
  ENSP00000370164 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391154 UniProtKB/TrEMBL
  ENSP00000414521 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484712 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501707 UniProtKB/TrEMBL
  ENSP00000502171 UniProtKB/TrEMBL
  ENSP00000502220 UniProtKB/TrEMBL
Ensembl Transcript ENST00000317552 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380779 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380780 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380782 UniProtKB/Swiss-Prot
  ENST00000380785 UniProtKB/Swiss-Prot
  ENST00000380787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000413894 UniProtKB/TrEMBL
  ENST00000453318 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000616003 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674917 UniProtKB/TrEMBL
  ENST00000675073 UniProtKB/TrEMBL
  ENST00000675358 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101871 GTEx
HGNC ID HGNC:7095 ENTREZGENE
Human Proteome Map MID1 Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bbox_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Butyrophylin_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COS_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MID1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Midline-1_COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf-RING_LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_B-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4281 ENTREZGENE
OMIM 300000 OMIM
  300552 OMIM
PANTHER PTHR24099:SF23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-B_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RING_UBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30816 PharmGKB
PRINTS BUTYPHLNCDUF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_BBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBV4 ENTREZGENE, UniProtKB/TrEMBL
  A0A087X255 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF94_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGA5_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGE7_HUMAN UniProtKB/TrEMBL
  C9J453_HUMAN UniProtKB/TrEMBL
  O15344 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RCG2 UniProtKB/Swiss-Prot
  O75361 UniProtKB/Swiss-Prot
  Q9BZX5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-06-24 MID1  midline 1    midline 1 (Opitz/BBB syndrome)  Symbol and/or name change 5135510 APPROVED