AFF2 (AF4/FMR2 family member 2) - Rat Genome Database

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Gene: AFF2 (AF4/FMR2 family member 2) Homo sapiens
Analyze
Symbol: AFF2
Name: AF4/FMR2 family member 2
RGD ID: 1343236
HGNC Page HGNC
Description: Predicted to have G-quadruplex RNA binding activity. Involved in nuclear speck organization and regulation of RNA splicing. Localizes to nuclear speck. Implicated in fragile X syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AF4/FMR2 family, member 2; FMR2; FMR2P; fragile site, folic acid type, rare, fra(X)(q28); fragile X E mental retardation syndrome protein; fragile X mental retardation 2 protein; FRAXE; FRAXE; MRX2; OX19; protein FMR-2
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 EnsemblX148,500,617 - 149,000,663 (+)EnsemblGRCh38hg38GRCh38
GRCh38X148,500,617 - 149,000,663 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X147,582,137 - 148,082,193 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X147,389,831 - 147,889,899 (+)NCBINCBI36hg18NCBI36
Build 34X147,287,684 - 147,787,753NCBI
CeleraX147,930,060 - 148,430,864 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX136,538,903 - 137,039,310 (+)NCBIHuRef
CHM1_1X147,493,410 - 147,993,320 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1301146   PMID:FRAXE   PMID:7541938   PMID:7783162   PMID:8023854   PMID:8334699   PMID:8651274   PMID:8673085   PMID:8673086   PMID:8824884   PMID:8900249   PMID:9032643  
PMID:9147647   PMID:9299237   PMID:9341861   PMID:9467002   PMID:9475603   PMID:10196698   PMID:10528856   PMID:10737800   PMID:10780779   PMID:10850542   PMID:10964075   PMID:11119302  
PMID:11355014   PMID:12477932   PMID:12777533   PMID:15772651   PMID:17196195   PMID:17474147   PMID:18029348   PMID:19136466   PMID:19460752   PMID:20734064   PMID:21254876   PMID:21330300  
PMID:21739600   PMID:21873635   PMID:22065534   PMID:22773736   PMID:23562910   PMID:25256661   PMID:26002199   PMID:29846670   PMID:29987050   PMID:30575818   PMID:31784536  


Genomics

Comparative Map Data
AFF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX148,500,617 - 149,000,663 (+)EnsemblGRCh38hg38GRCh38
GRCh38X148,500,617 - 149,000,663 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X147,582,137 - 148,082,193 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X147,389,831 - 147,889,899 (+)NCBINCBI36hg18NCBI36
Build 34X147,287,684 - 147,787,753NCBI
CeleraX147,930,060 - 148,430,864 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX136,538,903 - 137,039,310 (+)NCBIHuRef
CHM1_1X147,493,410 - 147,993,320 (+)NCBICHM1_1
Aff2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X68,403,796 - 68,915,660 (+)NCBIGRCm39mm39
GRCm39 EnsemblX68,403,900 - 68,911,643 (+)Ensembl
GRCm38X69,360,190 - 69,872,054 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX69,360,294 - 69,868,037 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X66,613,506 - 67,121,212 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X65,620,996 - 66,128,702 (+)NCBImm8
CeleraX60,388,756 - 60,881,813 (+)NCBICelera
Cytogenetic MapXA7.1- A7.2NCBI
Aff2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X147,928,130 - 148,432,484 (+)NCBI
Rnor_6.0 EnsemblX153,539,668 - 154,051,181 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X153,539,951 - 154,051,022 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01149,265,910 - 149,777,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X155,617,378 - 155,970,597 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1132,967,188 - 133,469,753 (-)NCBICelera
Cytogenetic MapXq37NCBI
Aff2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554981,012,555 - 1,492,616 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554981,012,323 - 1,497,031 (+)NCBIChiLan1.0ChiLan1.0
AFF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X147,950,886 - 148,446,235 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX147,951,022 - 148,436,935 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X137,524,106 - 138,015,114 (+)NCBIMhudiblu_PPA_v0panPan3
AFF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X116,849,294 - 117,167,875 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX116,696,401 - 117,164,655 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX102,589,304 - 103,060,400 (+)NCBI
ROS_Cfam_1.0X118,755,641 - 119,226,966 (+)NCBI
UMICH_Zoey_3.1X115,868,624 - 116,336,571 (+)NCBI
UNSW_CanFamBas_1.0X118,079,841 - 118,547,888 (+)NCBI
UU_Cfam_GSD_1.0X117,807,028 - 118,275,870 (+)NCBI
Aff2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X114,720,953 - 115,196,008 (+)NCBI
SpeTri2.0NW_004936513414,839 - 893,670 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AFF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX120,777,237 - 121,263,574 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X120,777,559 - 121,263,574 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X138,260,802 - 138,747,174 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AFF2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X123,192,633 - 123,708,505 (+)NCBI
ChlSab1.1 EnsemblX123,338,134 - 123,704,114 (+)Ensembl
Aff2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248831,140,660 - 1,615,672 (+)NCBI

Position Markers
DXS8091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,602,856 - 147,602,958UniSTSGRCh37
Build 36X147,410,548 - 147,410,650RGDNCBI36
CeleraX147,950,776 - 147,950,882RGD
Cytogenetic MapXq28UniSTS
HuRefX136,559,724 - 136,559,830UniSTS
Marshfield Genetic MapX96.14RGD
Marshfield Genetic MapX96.14UniSTS
Genethon Genetic MapX186.3UniSTS
deCODE Assembly MapX167.3UniSTS
Stanford-G3 RH MapX4238.0UniSTS
Whitehead-YAC Contig MapX UniSTS
GeneMap99-G3 RH MapX4383.0UniSTS
SHGC-7435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,079,552 - 148,079,648UniSTSGRCh37
Build 36X147,887,258 - 147,887,354RGDNCBI36
CeleraX148,428,223 - 148,428,319RGD
Cytogenetic MapXq28UniSTS
HuRefX137,036,669 - 137,036,765UniSTS
Stanford-G3 RH MapX4260.0UniSTS
RH18451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,081,898 - 148,082,024UniSTSGRCh37
Build 36X147,889,604 - 147,889,730RGDNCBI36
CeleraX148,430,569 - 148,430,695RGD
Cytogenetic MapXq28UniSTS
HuRefX137,039,015 - 137,039,141UniSTS
GeneMap99-GB4 RH MapX341.73UniSTS
NCBI RH MapX736.9UniSTS
DXS7394  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,743,469 - 147,743,537UniSTSGRCh37
Build 36X147,551,161 - 147,551,229RGDNCBI36
CeleraX148,092,149 - 148,092,217RGD
Cytogenetic MapXq28UniSTS
HuRefX136,700,699 - 136,700,767UniSTS
RH45213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,629,734 - 147,629,924UniSTSGRCh37
Build 36X147,437,426 - 147,437,616RGDNCBI36
CeleraX147,977,579 - 147,977,769RGD
Cytogenetic MapXq28UniSTS
HuRefX136,586,157 - 136,586,347UniSTS
DXS1318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,856,076 - 147,856,245UniSTSGRCh37
Build 36X147,663,768 - 147,663,937RGDNCBI36
CeleraX148,204,760 - 148,204,929RGD
Cytogenetic MapXq28UniSTS
HuRefX136,813,604 - 136,813,773UniSTS
DXS7812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,850,781 - 147,850,951UniSTSGRCh37
Build 36X147,658,473 - 147,658,643RGDNCBI36
CeleraX148,199,467 - 148,199,637RGD
Cytogenetic MapXq28UniSTS
HuRefX136,808,323 - 136,808,493UniSTS
UniSTS:99231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,936,677 - 147,936,763UniSTSGRCh37
Build 36X147,744,369 - 147,744,455RGDNCBI36
CeleraX148,285,345 - 148,285,431RGD
HuRefX136,894,003 - 136,894,089UniSTS
RH120439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,079,024 - 148,079,295UniSTSGRCh37
Build 36X147,886,730 - 147,887,001RGDNCBI36
CeleraX148,427,695 - 148,427,966RGD
Cytogenetic MapXq28UniSTS
HuRefX137,036,141 - 137,036,412UniSTS
RH119837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,079,024 - 148,079,356UniSTSGRCh37
Build 36X147,886,730 - 147,887,062RGDNCBI36
CeleraX148,427,695 - 148,428,027RGD
Cytogenetic MapXq28UniSTS
HuRefX137,036,141 - 137,036,473UniSTS
DXS1691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,587,434 - 147,587,537UniSTSGRCh37
Build 36X147,395,126 - 147,395,229RGDNCBI36
CeleraX147,935,355 - 147,935,458RGD
Cytogenetic MapXq28UniSTS
HuRefX136,544,238 - 136,544,341UniSTS
DXS6687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,602,846 - 147,602,955UniSTSGRCh37
Build 36X147,410,538 - 147,410,647RGDNCBI36
CeleraX147,950,766 - 147,950,879RGD
Cytogenetic MapXq28UniSTS
HuRefX136,559,714 - 136,559,827UniSTS
GDB:215331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,582,098 - 147,582,432UniSTSGRCh37
Build 36X147,389,790 - 147,390,124RGDNCBI36
CeleraX147,930,019 - 147,930,353RGD
Cytogenetic MapXq28UniSTS
AFM323YF1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,587,438 - 147,587,573UniSTSGRCh37
Build 36X147,395,130 - 147,395,265RGDNCBI36
CeleraX147,935,359 - 147,935,494RGD
Cytogenetic MapXq28UniSTS
HuRefX136,544,242 - 136,544,377UniSTS
Whitehead-YAC Contig MapX UniSTS
Xq4086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,028,898 - 148,029,890UniSTSGRCh37
Build 36X147,836,600 - 147,837,592RGDNCBI36
CeleraX148,377,571 - 148,378,563RGD
Cytogenetic MapXq28UniSTS
HuRefX136,986,013 - 136,987,005UniSTS
Xq4087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,986,191 - 147,987,191UniSTSGRCh37
Build 36X147,793,882 - 147,794,882RGDNCBI36
CeleraX148,334,853 - 148,335,853RGD
Cytogenetic MapXq28UniSTS
HuRefX136,943,358 - 136,944,358UniSTS
RH70649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,073,469 - 148,073,701UniSTSGRCh37
Build 36X147,881,175 - 147,881,407RGDNCBI36
CeleraX148,422,140 - 148,422,372RGD
Cytogenetic MapXq28UniSTS
HuRefX137,030,604 - 137,030,836UniSTS
GeneMap99-GB4 RH MapX344.23UniSTS
NCBI RH MapX724.7UniSTS
DXS8273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,642,228 - 147,642,496UniSTSGRCh37
Build 36X147,449,920 - 147,450,188RGDNCBI36
CeleraX147,990,073 - 147,990,341RGD
Cytogenetic MapXq28UniSTS
HuRefX136,598,665 - 136,598,933UniSTS
DXS8272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,836,987 - 147,837,234UniSTSGRCh37
Build 36X147,644,679 - 147,644,926RGDNCBI36
CeleraX148,185,667 - 148,185,914RGD
Cytogenetic MapXq28UniSTS
DXS6729  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X147,947,913 - 147,948,137UniSTSGRCh37
Build 36X147,755,605 - 147,755,829RGDNCBI36
CeleraX148,296,581 - 148,296,805RGD
Cytogenetic MapXq28UniSTS
HuRefX136,905,239 - 136,905,463UniSTS
WI-14955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,049,127 - 148,049,255UniSTSGRCh37
Build 36X147,856,821 - 147,856,949RGDNCBI36
CeleraX148,397,792 - 148,397,920RGD
Cytogenetic MapXq28UniSTS
HuRefX137,006,234 - 137,006,362UniSTS
GeneMap99-GB4 RH MapX333.36UniSTS
Whitehead-RH MapX310.4UniSTS
NCBI RH MapX724.7UniSTS
RH66769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,074,508 - 148,074,629UniSTSGRCh37
Build 36X147,882,214 - 147,882,335RGDNCBI36
CeleraX148,423,179 - 148,423,300RGD
Cytogenetic MapXq28UniSTS
HuRefX137,031,643 - 137,031,764UniSTS
GeneMap99-GB4 RH MapX333.53UniSTS
NCBI RH MapX735.2UniSTS
AFF2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X148,068,908 - 148,069,040UniSTSGRCh37
CeleraX148,417,579 - 148,417,711UniSTS
HuRefX137,026,043 - 137,026,175UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:16206
Count of miRNA genes:1530
Interacting mature miRNAs:2133
Transcripts:ENST00000286437, ENST00000342251, ENST00000370457, ENST00000370458, ENST00000370460
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 11 10 112 13 1 179 5 12 6 11 1
Low 440 1189 680 27 416 26 2415 412 2501 126 771 1034 5 1 815 1491 3
Below cutoff 1831 1750 838 407 1188 246 1808 1634 1007 211 582 427 161 389 1196 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001169125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB101711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB101730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC231841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI030785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM764782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY689834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L76569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286437   ⟹   ENSP00000286437
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,719,091 - 149,000,663 (+)Ensembl
RefSeq Acc Id: ENST00000342251   ⟹   ENSP00000345459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,500,708 - 148,994,424 (+)Ensembl
RefSeq Acc Id: ENST00000370457   ⟹   ENSP00000359486
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,501,047 - 148,991,402 (+)Ensembl
RefSeq Acc Id: ENST00000370458   ⟹   ENSP00000359487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,501,009 - 148,904,377 (+)Ensembl
RefSeq Acc Id: ENST00000370460   ⟹   ENSP00000359489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,500,617 - 149,000,663 (+)Ensembl
RefSeq Acc Id: ENST00000671877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,719,091 - 148,991,402 (+)Ensembl
RefSeq Acc Id: ENST00000673378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX148,719,111 - 148,955,691 (+)Ensembl
RefSeq Acc Id: NM_001169122   ⟹   NP_001162593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,617 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,493,410 - 147,993,320 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001169123   ⟹   NP_001162594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,617 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,493,410 - 147,993,320 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001169124   ⟹   NP_001162595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,617 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,493,410 - 147,993,320 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001169125   ⟹   NP_001162596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,617 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,493,410 - 147,993,320 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001170628   ⟹   NP_001164099
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,719,091 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,711,730 - 147,993,320 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002025   ⟹   NP_002016
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,617 - 149,000,663 (+)NCBI
GRCh37X147,582,139 - 148,082,193 (+)ENTREZGENE
Build 36X147,389,831 - 147,889,899 (+)NCBI Archive
HuRefX136,538,903 - 137,039,310 (+)ENTREZGENE
CHM1_1X147,493,410 - 147,993,320 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001162593 (Get FASTA)   NCBI Sequence Viewer  
  NP_001162594 (Get FASTA)   NCBI Sequence Viewer  
  NP_001162595 (Get FASTA)   NCBI Sequence Viewer  
  NP_001162596 (Get FASTA)   NCBI Sequence Viewer  
  NP_001164099 (Get FASTA)   NCBI Sequence Viewer  
  NP_002016 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA99416 (Get FASTA)   NCBI Sequence Viewer  
  AAB71534 (Get FASTA)   NCBI Sequence Viewer  
  AAC82513 (Get FASTA)   NCBI Sequence Viewer  
  AAD45878 (Get FASTA)   NCBI Sequence Viewer  
  AAI32684 (Get FASTA)   NCBI Sequence Viewer  
  AAI43741 (Get FASTA)   NCBI Sequence Viewer  
  AAI43745 (Get FASTA)   NCBI Sequence Viewer  
  BAC80300 (Get FASTA)   NCBI Sequence Viewer  
  BAC80301 (Get FASTA)   NCBI Sequence Viewer  
  BAC80302 (Get FASTA)   NCBI Sequence Viewer  
  BAC80303 (Get FASTA)   NCBI Sequence Viewer  
  BAC80304 (Get FASTA)   NCBI Sequence Viewer  
  BAC80305 (Get FASTA)   NCBI Sequence Viewer  
  BAC80306 (Get FASTA)   NCBI Sequence Viewer  
  BAC80307 (Get FASTA)   NCBI Sequence Viewer  
  BAC80308 (Get FASTA)   NCBI Sequence Viewer  
  BAC80309 (Get FASTA)   NCBI Sequence Viewer  
  BAC80310 (Get FASTA)   NCBI Sequence Viewer  
  BAC80311 (Get FASTA)   NCBI Sequence Viewer  
  BAC80312 (Get FASTA)   NCBI Sequence Viewer  
  BAC80313 (Get FASTA)   NCBI Sequence Viewer  
  BAC80314 (Get FASTA)   NCBI Sequence Viewer  
  BAC80315 (Get FASTA)   NCBI Sequence Viewer  
  BAC80316 (Get FASTA)   NCBI Sequence Viewer  
  BAC80317 (Get FASTA)   NCBI Sequence Viewer  
  BAC80318 (Get FASTA)   NCBI Sequence Viewer  
  BAC80319 (Get FASTA)   NCBI Sequence Viewer  
  BAC81113 (Get FASTA)   NCBI Sequence Viewer  
  BAG63347 (Get FASTA)   NCBI Sequence Viewer  
  CAA04822 (Get FASTA)   NCBI Sequence Viewer  
  CAA64730 (Get FASTA)   NCBI Sequence Viewer  
  EAW61286 (Get FASTA)   NCBI Sequence Viewer  
  EAW61287 (Get FASTA)   NCBI Sequence Viewer  
  EAW61288 (Get FASTA)   NCBI Sequence Viewer  
  EAW61289 (Get FASTA)   NCBI Sequence Viewer  
  P51816 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_002016   ⟸   NM_002025
- Peptide Label: isoform 1
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162595   ⟸   NM_001169124
- Peptide Label: isoform 4
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162594   ⟸   NM_001169123
- Peptide Label: isoform 3
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162593   ⟸   NM_001169122
- Peptide Label: isoform 2
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001162596   ⟸   NM_001169125
- Peptide Label: isoform 5
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001164099   ⟸   NM_001170628
- Peptide Label: isoform 6
- UniProtKB: P51816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000359486   ⟸   ENST00000370457
RefSeq Acc Id: ENSP00000359487   ⟸   ENST00000370458
RefSeq Acc Id: ENSP00000359489   ⟸   ENST00000370460
RefSeq Acc Id: ENSP00000286437   ⟸   ENST00000286437
RefSeq Acc Id: ENSP00000345459   ⟸   ENST00000342251

Promoters
RGD ID:6808486
Promoter ID:HG_KWN:68357
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   NB4
Transcripts:ENST00000342251,   ENST00000370460,   NM_001169124,   OTTHUMT00000058672,   UC004FCO.2,   UC004FCQ.1,   UC004FCR.1,   UC004FCS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X147,389,886 - 147,390,637 (+)MPROMDB
RGD ID:13628296
Promoter ID:EPDNEW_H29424
Type:initiation region
Name:AFF2_2
Description:AF4/FMR2 family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29423  EPDNEW_H29425  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,500,625 - 148,500,685EPDNEW
RGD ID:13628300
Promoter ID:EPDNEW_H29425
Type:initiation region
Name:AFF2_1
Description:AF4/FMR2 family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29424  EPDNEW_H29423  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X148,501,031 - 148,501,091EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002025.4(AFF2):c.3847C>T (p.Pro1283Ser) single nucleotide variant not provided [RCV000523214] ChrX:148991243 [GRCh38]
ChrX:148072773 [GRCh37]
ChrX:Xq28
uncertain significance
AFF2, 121- to 145-KB DEL deletion FRAXE [RCV000022875] ChrX:Xq28 pathogenic
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met) single nucleotide variant not provided [RCV000519682] ChrX:148966914 [GRCh38]
ChrX:148048444 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001169122.1(AFF2):c.-460_-458GCC(6_25) microsatellite FRAXE [RCV000011272] ChrX:148500638..148500640 [GRCh38]
ChrX:147582158..147582160 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_002025.4(AFF2):c.1558C>A (p.Pro520Thr) single nucleotide variant not provided [RCV000522151] ChrX:148955603 [GRCh38]
ChrX:148037133 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq27.3-28(chrX:146896288-149621145)x1 copy number loss See cases [RCV000050631] ChrX:146896288..149621145 [GRCh38]
ChrX:145785498..148510629 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 copy number loss See cases [RCV000051748] ChrX:147151996..150364798 [GRCh38]
ChrX:146041206..149283723 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139230333-150628474)x1 copy number loss See cases [RCV000051733] ChrX:139230333..150628474 [GRCh38]
ChrX:138312495..149782550 [GRCh37]
ChrX:138140161..149547605 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 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 Xp22.33-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:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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-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-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
NM_002025.3(AFF2):c.3694C>T (p.Pro1232Ser) single nucleotide variant Malignant melanoma [RCV000073106] ChrX:148987437 [GRCh38]
ChrX:148068967 [GRCh37]
ChrX:147876673 [NCBI36]
ChrX:Xq28
not provided
NM_002025.4(AFF2):c.2424C>T (p.Asp808=) single nucleotide variant not provided [RCV000079969] ChrX:148956469 [GRCh38]
ChrX:148037999 [GRCh37]
ChrX:Xq28
conflicting interpretations of pathogenicity|uncertain significance
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) single nucleotide variant FRAXE [RCV000990961]|Intellectual disability [RCV001251878]|not provided [RCV000079970] ChrX:148966964 [GRCh38]
ChrX:148048494 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
NM_002025.4(AFF2):c.3404+7A>G single nucleotide variant not specified [RCV000079971] ChrX:148973614 [GRCh38]
ChrX:148055144 [GRCh37]
ChrX:Xq28
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_002025.4(AFF2):c.1118C>G (p.Thr373Ser) single nucleotide variant not provided [RCV000116240] ChrX:148837678 [GRCh38]
ChrX:147919202 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) single nucleotide variant not specified [RCV000116243] ChrX:148953670 [GRCh38]
ChrX:148035200 [GRCh37]
ChrX:Xq28
benign
NM_002025.4(AFF2):c.1653A>G (p.Thr551=) single nucleotide variant not provided [RCV000864320]|not specified [RCV000116244] ChrX:148955698 [GRCh38]
ChrX:148037228 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_002025.4(AFF2):c.1830G>C (p.Leu610Phe) single nucleotide variant FRAXE [RCV000766075]|not provided [RCV000116245] ChrX:148955875 [GRCh38]
ChrX:148037405 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3837G>A (p.Thr1279=) single nucleotide variant not specified [RCV000116246] ChrX:148991233 [GRCh38]
ChrX:148072763 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_002025.4(AFF2):c.493A>G (p.Asn165Asp) single nucleotide variant not provided [RCV000913989]|not specified [RCV000116247] ChrX:148662220 [GRCh38]
ChrX:147743741 [GRCh37]
ChrX:Xq28
benign|likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 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
NM_002025.4(AFF2):c.2296_2298AAC[2] (p.Asn768del) microsatellite not provided [RCV000174061] ChrX:148956340..148956342 [GRCh38]
ChrX:148037870..148037872 [GRCh37]
ChrX:Xq28
uncertain significance
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
NM_002025.4(AFF2):c.2780G>A (p.Arg927His) single nucleotide variant FRAXE [RCV000990960]|not provided [RCV000872541]|not specified [RCV000174514] ChrX:148962804 [GRCh38]
ChrX:148044334 [GRCh37]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
NM_002025.4(AFF2):c.3270C>T (p.Phe1090=) single nucleotide variant not provided [RCV000175033] ChrX:148973473 [GRCh38]
ChrX:148055003 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 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 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
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 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq28(chrX:148008451-148757955)x3 copy number gain See cases [RCV000135952] ChrX:148008451..148757955 [GRCh38]
ChrX:146897663..147647171 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:148999676-149003587)x1 copy number loss See cases [RCV000140858] ChrX:148999676..149003587 [GRCh38]
ChrX:147888912..147892823 [NCBI36]
ChrX:Xq28
uncertain significance
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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq28(chrX:148959372-149023968)x1 copy number loss See cases [RCV000141651] ChrX:148959372..149023968 [GRCh38]
ChrX:148040902..148105498 [GRCh37]
ChrX:147848598..147913208 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1 copy number loss See cases [RCV000141518] ChrX:142602008..149482800 [GRCh38]
ChrX:141689794..147944759 [GRCh37]
ChrX:141517460..148372236 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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
NM_002025.4(AFF2):c.1541G>C (p.Arg514Pro) single nucleotide variant not provided [RCV000152754] ChrX:148953723 [GRCh38]
ChrX:148035253 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.496C>T (p.Pro166Ser) single nucleotide variant not specified [RCV000152753] ChrX:148662223 [GRCh38]
ChrX:147743744 [GRCh37]
ChrX:Xq28
benign|likely benign|conflicting interpretations of pathogenicity
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala) single nucleotide variant Intellectual disability [RCV001251879]|not provided [RCV000826947]|not specified [RCV000152755] ChrX:148958424 [GRCh38]
ChrX:148039954 [GRCh37]
ChrX:Xq28
benign|likely benign
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_002025.4(AFF2):c.3576T>C (p.Asn1192=) single nucleotide variant not provided [RCV000175425] ChrX:148980743 [GRCh38]
ChrX:148062273 [GRCh37]
ChrX:Xq28
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
NM_002025.4(AFF2):c.3696A>T (p.Pro1232=) single nucleotide variant not provided [RCV000872139]|not specified [RCV000176056] ChrX:148987439 [GRCh38]
ChrX:148068969 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_002025.4(AFF2):c.733G>A (p.Ala245Thr) single nucleotide variant not specified [RCV000193577] ChrX:148662460 [GRCh38]
ChrX:147743981 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) single nucleotide variant not provided [RCV000514397]|not specified [RCV000178859] ChrX:148837681 [GRCh38]
ChrX:147919205 [GRCh37]
ChrX:Xq28
benign
NM_002025.4(AFF2):c.495C>A (p.Asn165Lys) single nucleotide variant not provided [RCV000177145] ChrX:148662222 [GRCh38]
ChrX:147743743 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.181-6T>C single nucleotide variant not provided [RCV000177146] ChrX:148661902 [GRCh38]
ChrX:147743423 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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_002025.4(AFF2):c.1133C>G (p.Ala378Gly) single nucleotide variant not specified [RCV000194496] ChrX:148837693 [GRCh38]
ChrX:147919217 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.47+16T>C single nucleotide variant not specified [RCV000194507] ChrX:148501160 [GRCh38]
ChrX:147582680 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.292C>A (p.Pro98Thr) single nucleotide variant not specified [RCV000192435] ChrX:148662019 [GRCh38]
ChrX:147743540 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3081C>T (p.Thr1027=) single nucleotide variant not specified [RCV000193463] ChrX:148966957 [GRCh38]
ChrX:148048487 [GRCh37]
ChrX:Xq28
uncertain significance
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-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002025.4(AFF2):c.*4554C>G single nucleotide variant FRAXE [RCV000203550] ChrX:148995886 [GRCh38]
ChrX:148077416 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1445G>C (p.Gly482Ala) single nucleotide variant Inborn genetic diseases [RCV000210652] ChrX:148953627 [GRCh38]
ChrX:148035157 [GRCh37]
ChrX:Xq28
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-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
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002025.4(AFF2):c.3035C>T (p.Ala1012Val) single nucleotide variant Inborn genetic diseases [RCV000623793] ChrX:148966911 [GRCh38]
ChrX:148048441 [GRCh37]
ChrX:Xq28
uncertain significance
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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
NM_002025.4(AFF2):c.1858A>G (p.Thr620Ala) single nucleotide variant not specified [RCV000375308] ChrX:148955903 [GRCh38]
ChrX:148037433 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1097A>G (p.His366Arg) single nucleotide variant not provided [RCV000347232] ChrX:148837657 [GRCh38]
ChrX:147919181 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.64C>T (p.Arg22Cys) single nucleotide variant not provided [RCV000352640] ChrX:148652015 [GRCh38]
ChrX:147733536 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3670G>A (p.Ala1224Thr) single nucleotide variant not provided [RCV000321577] ChrX:148987413 [GRCh38]
ChrX:148068943 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1842G>T (p.Leu614Phe) single nucleotide variant FRAXE [RCV001195877]|not provided [RCV000290270] ChrX:148955887 [GRCh38]
ChrX:148037417 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1424C>G (p.Pro475Arg) single nucleotide variant not provided [RCV000399925] ChrX:148953606 [GRCh38]
ChrX:148035136 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1262+1G>C single nucleotide variant not provided [RCV000399474] ChrX:148843434 [GRCh38]
ChrX:147924958 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2181C>T (p.Thr727=) single nucleotide variant not provided [RCV000937960]|not specified [RCV000596684] ChrX:148956226 [GRCh38]
ChrX:148037756 [GRCh37]
ChrX:Xq28
benign|likely benign
NM_002025.4(AFF2):c.2196C>T (p.Val732=) single nucleotide variant not provided [RCV000864694]|not specified [RCV000596968] ChrX:148956241 [GRCh38]
ChrX:148037771 [GRCh37]
ChrX:Xq28
benign
NM_002025.4(AFF2):c.781C>T (p.Pro261Ser) single nucleotide variant not provided [RCV000293516] ChrX:148662508 [GRCh38]
ChrX:147744029 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3606A>G (p.Pro1202=) single nucleotide variant not provided [RCV000332887] ChrX:148980773 [GRCh38]
ChrX:148062303 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3405-1G>T single nucleotide variant not provided [RCV000522076] ChrX:148977932 [GRCh38]
ChrX:148059462 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter) single nucleotide variant Inborn genetic diseases [RCV000622545] ChrX:148652027 [GRCh38]
ChrX:147733548 [GRCh37]
ChrX:Xq28
pathogenic
NM_002025.4(AFF2):c.233A>G (p.Tyr78Cys) single nucleotide variant Inborn genetic diseases [RCV000623234] ChrX:148661960 [GRCh38]
ChrX:147743481 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2830G>A (p.Ala944Thr) single nucleotide variant Inborn genetic diseases [RCV000622918] ChrX:148962854 [GRCh38]
ChrX:148044384 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.178T>C (p.Tyr60His) single nucleotide variant not provided [RCV000520309] ChrX:148652129 [GRCh38]
ChrX:147733650 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3100C>A (p.Leu1034Ile) single nucleotide variant not provided [RCV000591359] ChrX:148966976 [GRCh38]
ChrX:148048506 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2776C>T (p.Arg926Cys) single nucleotide variant not provided [RCV001092168] ChrX:148962800 [GRCh38]
ChrX:148044330 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3209A>G (p.His1070Arg) single nucleotide variant Short stature [RCV000414874] ChrX:148967634 [GRCh38]
ChrX:148049164 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
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 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:147573612-147620560)x0 copy number loss See cases [RCV000446948] ChrX:147573612..147620560 [GRCh37]
ChrX:Xq28
pathogenic
NM_002025.4(AFF2):c.340T>C (p.Phe114Leu) single nucleotide variant not provided [RCV000431090] ChrX:148662067 [GRCh38]
ChrX:147743588 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3447G>A (p.Ser1149=) single nucleotide variant not specified [RCV000424453] ChrX:148977975 [GRCh38]
ChrX:148059505 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1262+6T>C single nucleotide variant not provided [RCV000434916] ChrX:148843439 [GRCh38]
ChrX:147924963 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.926T>C (p.Ile309Thr) single nucleotide variant not provided [RCV000420277] ChrX:148662653 [GRCh38]
ChrX:147744174 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_002025.4(AFF2):c.481C>A (p.Arg161Ser) single nucleotide variant not provided [RCV000436022] ChrX:148662208 [GRCh38]
ChrX:147743729 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.566C>T (p.Ser189Phe) single nucleotide variant not provided [RCV000439492] ChrX:148662293 [GRCh38]
ChrX:147743814 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.896C>T (p.Pro299Leu) single nucleotide variant not provided [RCV000422304]|not specified [RCV001193618] ChrX:148662623 [GRCh38]
ChrX:147744144 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.199C>T (p.Leu67Phe) single nucleotide variant not provided [RCV000425733] ChrX:148661926 [GRCh38]
ChrX:147743447 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1460C>T (p.Ser487Phe) single nucleotide variant not provided [RCV000422612] ChrX:148953642 [GRCh38]
ChrX:148035172 [GRCh37]
ChrX:Xq28
uncertain significance
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
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
NM_002025.4(AFF2):c.3575del (p.Asn1192fs) deletion not provided [RCV000482948] ChrX:148980739 [GRCh38]
ChrX:148062269 [GRCh37]
ChrX:Xq28
pathogenic
NM_002025.4(AFF2):c.1114C>T (p.Leu372Phe) single nucleotide variant not provided [RCV000480665] ChrX:148837674 [GRCh38]
ChrX:147919198 [GRCh37]
ChrX:Xq28
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_002025.4(AFF2):c.2427A>G (p.Leu809=) single nucleotide variant not specified [RCV000501412] ChrX:148956472 [GRCh38]
ChrX:148038002 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3589G>A (p.Ala1197Thr) single nucleotide variant not specified [RCV000503858] ChrX:148980756 [GRCh38]
ChrX:148062286 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.561C>A (p.Asp187Glu) single nucleotide variant not specified [RCV000499580] ChrX:148662288 [GRCh38]
ChrX:147743809 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3697G>A (p.Val1233Ile) single nucleotide variant not specified [RCV000500496] ChrX:148987440 [GRCh38]
ChrX:148068970 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3267+5G>A single nucleotide variant FRAXE [RCV001095676]|not provided [RCV000498584] ChrX:148967697 [GRCh38]
ChrX:148049227 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2702C>A (p.Ser901Tyr) single nucleotide variant not specified [RCV000503201] ChrX:148962726 [GRCh38]
ChrX:148044256 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:147579427-147603852)x3 copy number gain See cases [RCV000511551] ChrX:147579427..147603852 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq28(chrX:148050494-148155055)x2 copy number gain See cases [RCV000512033] ChrX:148050494..148155055 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:148015538-148827774)x2 copy number gain See cases [RCV000510949] ChrX:148015538..148827774 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002025.4(AFF2):c.1173G>A (p.Gln391=) single nucleotide variant FRAXE [RCV001330675]|not specified [RCV000579270] ChrX:148837733 [GRCh38]
ChrX:147919257 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1640G>A (p.Gly547Asp) single nucleotide variant not provided [RCV000514632] ChrX:148955685 [GRCh38]
ChrX:148037215 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1042-5T>G single nucleotide variant not specified [RCV000601899] ChrX:148809871 [GRCh38]
ChrX:147891395 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:147680249-149682911)x2 copy number gain not provided [RCV000684408] ChrX:147680249..149682911 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:147891807-147993972)x2 copy number gain not provided [RCV000684409] ChrX:147891807..147993972 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
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 [RCV000754365] ChrX:1..156040895 [GRCh38]
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
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_002025.4(AFF2):c.1697T>C (p.Met566Thr) single nucleotide variant not provided [RCV000871936] ChrX:148955742 [GRCh38]
ChrX:148037272 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1541G>A (p.Arg514His) single nucleotide variant not provided [RCV000762674] ChrX:148953723 [GRCh38]
ChrX:148035253 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2009G>A (p.Arg670His) single nucleotide variant not provided [RCV000762675] ChrX:148956054 [GRCh38]
ChrX:148037584 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_002025.4(AFF2):c.1788C>A (p.Ala596=) single nucleotide variant not provided [RCV000945817] ChrX:148955833 [GRCh38]
ChrX:148037363 [GRCh37]
ChrX:Xq28
benign
NM_002025.4(AFF2):c.1398-10T>G single nucleotide variant not provided [RCV000882858] ChrX:148953570 [GRCh38]
ChrX:148035100 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_002025.4(AFF2):c.407T>A (p.Met136Lys) single nucleotide variant not provided [RCV000996030] ChrX:148662134 [GRCh38]
ChrX:147743655 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1625A>G (p.Lys542Arg) single nucleotide variant not provided [RCV000996031] ChrX:148955670 [GRCh38]
ChrX:148037200 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2913+7A>G single nucleotide variant not provided [RCV000996032] ChrX:148962944 [GRCh38]
ChrX:148044474 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3827A>G (p.Asp1276Gly) single nucleotide variant not provided [RCV000782016] ChrX:148991223 [GRCh38]
ChrX:148072753 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:147642893-147870805) copy number loss FRAXE [RCV000767809] ChrX:147642893..147870805 [GRCh37]
ChrX:Xq28
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
NM_002025.4(AFF2):c.1404C>T (p.Pro468=) single nucleotide variant not provided [RCV000896958] ChrX:148953586 [GRCh38]
ChrX:148035116 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3814+10T>G single nucleotide variant not provided [RCV000876625] ChrX:148987567 [GRCh38]
ChrX:148069097 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3268T>A (p.Phe1090Ile) single nucleotide variant not provided [RCV000938905] ChrX:148973471 [GRCh38]
ChrX:148055001 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3654C>T (p.Asn1218=) single nucleotide variant not provided [RCV000877175] ChrX:148987397 [GRCh38]
ChrX:148068927 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.294A>G (p.Pro98=) single nucleotide variant not provided [RCV000903057] ChrX:148662021 [GRCh38]
ChrX:147743542 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1467A>G (p.Glu489=) single nucleotide variant not provided [RCV000880185] ChrX:148953649 [GRCh38]
ChrX:148035179 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3456C>T (p.Asp1152=) single nucleotide variant not provided [RCV000920418] ChrX:148977984 [GRCh38]
ChrX:148059514 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1834C>G (p.His612Asp) single nucleotide variant FRAXE [RCV000990959] ChrX:148955879 [GRCh38]
ChrX:148037409 [GRCh37]
ChrX:Xq28
likely benign
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_002025.4(AFF2):c.3229C>T (p.Gln1077Ter) single nucleotide variant Intellectual disability [RCV000850211] ChrX:148967654 [GRCh38]
ChrX:148049184 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139513270-149234353)x2 copy number gain not provided [RCV000846424] ChrX:139513270..149234353 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_002025.4(AFF2):c.3002_3031del (p.Ile1001_Ala1010del) deletion not provided [RCV000954544] ChrX:148966868..148966897 [GRCh38]
ChrX:148048398..148048427 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1353C>G (p.Leu451=) single nucleotide variant not provided [RCV000951995] ChrX:148885979 [GRCh38]
ChrX:147967509 [GRCh37]
ChrX:Xq28
benign
NM_002025.4(AFF2):c.2907G>A (p.Ser969=) single nucleotide variant not provided [RCV000918276] ChrX:148962931 [GRCh38]
ChrX:148044461 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.3147C>T (p.Pro1049=) single nucleotide variant not provided [RCV000888557] ChrX:148967023 [GRCh38]
ChrX:148048553 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1702G>A (p.Val568Ile) single nucleotide variant not specified [RCV001193619] ChrX:148955747 [GRCh38]
ChrX:148037277 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2112G>A (p.Val704=) single nucleotide variant not provided [RCV000934449] ChrX:148956157 [GRCh38]
ChrX:148037687 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.1238C>T (p.Ser413Phe) single nucleotide variant not provided [RCV001039527] ChrX:148843409 [GRCh38]
ChrX:147924933 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2914-15C>A single nucleotide variant FRAXE [RCV001196200] ChrX:148966775 [GRCh38]
ChrX:148048305 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:147836583-148128379)x3 copy number gain not provided [RCV001007356] ChrX:147836583..148128379 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3448G>T (p.Asp1150Tyr) single nucleotide variant FRAXE [RCV001251517] ChrX:148977976 [GRCh38]
ChrX:148059506 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys) single nucleotide variant Intellectual disability [RCV001251877] ChrX:148652130 [GRCh38]
ChrX:147733651 [GRCh37]
ChrX:Xq28
likely benign
NM_002025.4(AFF2):c.263A>G (p.His88Arg) single nucleotide variant Inborn genetic diseases [RCV001265756] ChrX:148661990 [GRCh38]
ChrX:147743511 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3203+1G>A single nucleotide variant Inborn genetic diseases [RCV001266608] ChrX:148967080 [GRCh38]
ChrX:148048610 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_002025.4(AFF2):c.3098G>A (p.Gly1033Asp) single nucleotide variant Inborn genetic diseases [RCV001267267] ChrX:148966974 [GRCh38]
ChrX:148048504 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:147625478-148258048)x3 copy number gain not provided [RCV001258421] ChrX:147625478..148258048 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1210+1G>A single nucleotide variant Inborn genetic diseases [RCV001267507] ChrX:148843003 [GRCh38]
ChrX:147924527 [GRCh37]
ChrX:Xq28
likely pathogenic
NM_002025.4(AFF2):c.2792G>A (p.Ser931Asn) single nucleotide variant Inborn genetic diseases [RCV001267551] ChrX:148962816 [GRCh38]
ChrX:148044346 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3346G>A (p.Asp1116Asn) single nucleotide variant Inborn genetic diseases [RCV001266129] ChrX:148973549 [GRCh38]
ChrX:148055079 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1660G>A (p.Glu554Lys) single nucleotide variant Inborn genetic diseases [RCV001266844] ChrX:148955705 [GRCh38]
ChrX:148037235 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2558G>A (p.Arg853His) single nucleotide variant FRAXE [RCV001262382] ChrX:148956603 [GRCh38]
ChrX:148038133 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002025.4(AFF2):c.3815-5T>C single nucleotide variant not provided [RCV001350197] ChrX:148991206 [GRCh38]
ChrX:148072736 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.2903T>C (p.Ile968Thr) single nucleotide variant not provided [RCV001280737] ChrX:148962927 [GRCh38]
ChrX:148044457 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.1467A>T (p.Glu489Asp) single nucleotide variant FRAXE [RCV001330676] ChrX:148953649 [GRCh38]
ChrX:148035179 [GRCh37]
ChrX:Xq28
uncertain significance
NM_002025.4(AFF2):c.3010A>T (p.Thr1004Ser) single nucleotide variant FRAXE [RCV001330677] ChrX:148966886 [GRCh38]
ChrX:148048416 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) single nucleotide variant Premature ovarian failure [RCV001270244] ChrX:148967079 [GRCh38]
ChrX:148048609 [GRCh37]
ChrX:Xq28
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3776 AgrOrtholog
COSMIC AFF2 COSMIC
Ensembl Genes ENSG00000155966 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000286437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000345459 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000359487 UniProtKB/Swiss-Prot
  ENSP00000359489 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000286437 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000342251 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370457 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000370458 UniProtKB/Swiss-Prot
  ENST00000370460 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000155966 GTEx
HGNC ID HGNC:3776 ENTREZGENE
Human Proteome Map AFF2 Human Proteome Map
InterPro AF4/FMR2_C UniProtKB/Swiss-Prot
  AF4_int UniProtKB/Swiss-Prot
  TF_AF4/FMR2 UniProtKB/Swiss-Prot
KEGG Report hsa:2334 UniProtKB/Swiss-Prot
NCBI Gene 2334 ENTREZGENE
OMIM 300806 OMIM
  309548 OMIM
PANTHER PTHR10528 UniProtKB/Swiss-Prot
Pfam AF-4_C UniProtKB/Swiss-Prot
  AF4_int UniProtKB/Swiss-Prot
PharmGKB PA28192 PharmGKB
UniProt AFF2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2RTY4 UniProtKB/Swiss-Prot
  B4DXD5 UniProtKB/Swiss-Prot
  B7WNQ1 UniProtKB/Swiss-Prot
  B7ZLD6 UniProtKB/Swiss-Prot
  B7ZLD9 UniProtKB/Swiss-Prot
  O43786 UniProtKB/Swiss-Prot
  O60215 UniProtKB/Swiss-Prot
  P78407 UniProtKB/Swiss-Prot
  Q13521 UniProtKB/Swiss-Prot
  Q14323 UniProtKB/Swiss-Prot
  Q7Z2F7 UniProtKB/Swiss-Prot
  Q7Z400 UniProtKB/Swiss-Prot
  Q9UNA5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-16 AFF2  AF4/FMR2 family member 2  FRAXE  fragile site, folic acid type, rare, fra(X)(q28)  Data Merged 737654 PROVISIONAL
2015-11-24 AFF2  AF4/FMR2 family member 2  AFF2  AF4/FMR2 family, member 2  Symbol and/or name change 5135510 APPROVED