FAM50A (family with sequence similarity 50 member A) - Rat Genome Database

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Gene: FAM50A (family with sequence similarity 50 member A) Homo sapiens
Analyze
Symbol: FAM50A
Name: family with sequence similarity 50 member A
RGD ID: 1344714
HGNC Page HGNC
Description: Exhibits RNA binding activity. Predicted to be involved in chromatin organization. Localizes to nucleoplasm. Implicated in Armfield syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 9F; DXS9928E; family with sequence similarity 50, member A; HXC-26; HXC26; MRXSA; XAP-5; XAP5
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 EnsemblX154,444,141 - 154,450,654 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,444,141 - 154,450,654 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,672,488 - 153,679,002 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,325,702 - 153,332,190 (+)NCBINCBI36hg18NCBI36
Build 34X153,236,211 - 153,242,700NCBI
CeleraX153,833,529 - 153,840,045 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,251,559 - 142,256,609 (+)NCBIHuRef
CHM1_1X153,584,110 - 153,590,638 (+)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleoplasm  (IDA)
nucleus  (IBA,IDA,NAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8248200   PMID:8281148   PMID:8733135   PMID:8889548   PMID:9039504   PMID:9339379   PMID:10534398   PMID:11076863   PMID:11256614   PMID:12477932   PMID:15489334   PMID:15489336  
PMID:15772651   PMID:16344560   PMID:16381901   PMID:18029348   PMID:19913121   PMID:20628086   PMID:21832049   PMID:21873635   PMID:22658674   PMID:22681889   PMID:22939629   PMID:24957674  
PMID:24999758   PMID:25281560   PMID:26344197   PMID:26496610   PMID:27609421   PMID:27926873   PMID:28515276   PMID:28574578   PMID:28700943   PMID:29568061   PMID:30021884   PMID:30022168  
PMID:30033366   PMID:30232004   PMID:30652415   PMID:32416067   PMID:32694731   PMID:32703943  


Genomics

Comparative Map Data
FAM50A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX154,444,141 - 154,450,654 (+)EnsemblGRCh38hg38GRCh38
GRCh38X154,444,141 - 154,450,654 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,672,488 - 153,679,002 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,325,702 - 153,332,190 (+)NCBINCBI36hg18NCBI36
Build 34X153,236,211 - 153,242,700NCBI
CeleraX153,833,529 - 153,840,045 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,251,559 - 142,256,609 (+)NCBIHuRef
CHM1_1X153,584,110 - 153,590,638 (+)NCBICHM1_1
Fam50a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X73,356,589 - 73,363,761 (+)NCBIGRCm39mm39
GRCm39 EnsemblX73,356,639 - 73,363,755 (+)Ensembl
GRCm38X74,313,033 - 74,320,149 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX74,313,033 - 74,320,149 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X71,558,372 - 71,565,488 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X70,565,753 - 70,572,853 (+)NCBImm8
CeleraX65,566,824 - 65,573,938 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
Fam50a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X152,095,245 - 152,102,362 (+)NCBI
Rnor_6.0 EnsemblX156,392,630 - 156,399,760 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl4104,949,597 - 104,956,714 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X156,392,646 - 156,399,763 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01152,132,780 - 152,139,910 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X160,291,003 - 160,298,407NCBIRGSC3.4rn4RGSC3.4
Celera1135,794,289 - 135,801,510 (-)NCBICelera
Cytogenetic MapXq37NCBI
Fam50a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955580941,620 - 947,763 (+)NCBIChiLan1.0ChiLan1.0
FAM50A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X153,756,766 - 153,763,170 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X143,885,931 - 143,892,435 (+)NCBIMhudiblu_PPA_v0panPan3
FAM50A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X122,148,234 - 122,158,172 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX122,148,282 - 122,154,807 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X125,289,397 - 125,300,206 (+)NCBI
UMICH_Zoey_3.1X121,058,418 - 121,069,226 (+)NCBI
UNSW_CanFamBas_1.0X123,573,552 - 123,584,362 (+)NCBI
UU_Cfam_GSD_1.0X123,335,243 - 123,346,053 (+)NCBI
Fam50a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,457,705 - 119,464,425 (+)NCBI
SpeTri2.0NW_0049368091,195,479 - 1,202,126 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAM50A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,967,593 - 124,978,290 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,967,821 - 124,973,487 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,612,016 - 143,686,125 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAM50A
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Fam50a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946909,398 - 918,972 (+)NCBI

Position Markers
SGC34656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,832 - 153,678,956UniSTSGRCh37
Build 36X153,332,026 - 153,332,150RGDNCBI36
CeleraX153,839,875 - 153,839,999RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,439 - 142,256,563UniSTS
GeneMap99-GB4 RH MapX353.15UniSTS
Whitehead-RH MapX324.7UniSTS
ECD04850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,724 - 153,671,476UniSTSGRCh37
Build 36X153,323,918 - 153,324,670RGDNCBI36
CeleraX153,831,768 - 153,832,520RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,373 - 142,249,125UniSTS
ECD05102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,504 - 153,678,249UniSTSGRCh37
Build 36X153,330,698 - 153,331,443RGDNCBI36
CeleraX153,838,547 - 153,839,292RGD
Cytogenetic MapXq28UniSTS
ECD07086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,733 - 153,677,424UniSTSGRCh37
Build 36X153,329,927 - 153,330,618RGDNCBI36
CeleraX153,837,776 - 153,838,467RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,305 - 142,254,997UniSTS
ECD07324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,574 - 153,672,258UniSTSGRCh37
Build 36X153,324,768 - 153,325,452RGDNCBI36
CeleraX153,832,618 - 153,833,302RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,223 - 142,249,907UniSTS
ECD07888  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,347 - 153,679,016UniSTSGRCh37
Build 36X153,331,541 - 153,332,210RGDNCBI36
CeleraX153,839,390 - 153,840,059RGD
Cytogenetic MapXq28UniSTS
ECD09271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,172 - 153,674,805UniSTSGRCh37
Build 36X153,327,366 - 153,327,999RGDNCBI36
CeleraX153,835,215 - 153,835,848RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,757 - 142,252,390UniSTS
ECD09353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,856 - 153,673,487UniSTSGRCh37
Build 36X153,326,050 - 153,326,681RGDNCBI36
CeleraX153,833,899 - 153,834,530RGD
Cytogenetic MapXq28UniSTS
ECD09692  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,520 - 153,674,142UniSTSGRCh37
Build 36X153,326,714 - 153,327,336RGDNCBI36
CeleraX153,834,563 - 153,835,185RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,105 - 142,251,727UniSTS
ECD09883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,160 - 153,675,777UniSTSGRCh37
Build 36X153,328,354 - 153,328,971RGDNCBI36
CeleraX153,836,203 - 153,836,820RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,745 - 142,253,362UniSTS
ECD23672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,877 - 153,675,058UniSTSGRCh37
Build 36X153,328,071 - 153,328,252RGDNCBI36
CeleraX153,835,920 - 153,836,101RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,462 - 142,252,643UniSTS
ECD23906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,196 - 153,676,366UniSTSGRCh37
Build 36X153,329,390 - 153,329,560RGDNCBI36
CeleraX153,837,239 - 153,837,409RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,781 - 142,253,951UniSTS
REN89589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,547 - 153,670,780UniSTSGRCh37
Build 36X153,323,741 - 153,323,974RGDNCBI36
CeleraX153,831,591 - 153,831,824RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,196 - 142,248,429UniSTS
REN89590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,765 - 153,671,020UniSTSGRCh37
Build 36X153,323,959 - 153,324,214RGDNCBI36
CeleraX153,831,809 - 153,832,064RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,414 - 142,248,669UniSTS
REN89591  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,998 - 153,671,246UniSTSGRCh37
Build 36X153,324,192 - 153,324,440RGDNCBI36
CeleraX153,832,042 - 153,832,290RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,647 - 142,248,895UniSTS
REN89592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,223 - 153,671,464UniSTSGRCh37
Build 36X153,324,417 - 153,324,658RGDNCBI36
CeleraX153,832,267 - 153,832,508RGD
Cytogenetic MapXq28UniSTS
HuRefX142,248,872 - 142,249,113UniSTS
REN89593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,441 - 153,671,668UniSTSGRCh37
Build 36X153,324,635 - 153,324,862RGDNCBI36
CeleraX153,832,485 - 153,832,712RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,090 - 142,249,317UniSTS
REN89594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,633 - 153,671,907UniSTSGRCh37
Build 36X153,324,827 - 153,325,101RGDNCBI36
CeleraX153,832,677 - 153,832,951RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,282 - 142,249,556UniSTS
REN89595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,905 - 153,672,173UniSTSGRCh37
Build 36X153,325,099 - 153,325,367RGDNCBI36
CeleraX153,832,949 - 153,833,217RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,554 - 142,249,822UniSTS
REN89596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,060 - 153,672,285UniSTSGRCh37
Build 36X153,325,254 - 153,325,479RGDNCBI36
CeleraX153,833,104 - 153,833,329RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,709 - 142,249,934UniSTS
REN89597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,231 - 153,672,473UniSTSGRCh37
Build 36X153,325,425 - 153,325,667RGDNCBI36
CeleraX153,833,275 - 153,833,517RGD
Cytogenetic MapXq28UniSTS
REN89598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,578 - 153,672,846UniSTSGRCh37
Build 36X153,325,772 - 153,326,040RGDNCBI36
CeleraX153,833,621 - 153,833,889RGD
Cytogenetic MapXq28UniSTS
REN89599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,631 - 153,672,884UniSTSGRCh37
Build 36X153,325,825 - 153,326,078RGDNCBI36
CeleraX153,833,674 - 153,833,927RGD
Cytogenetic MapXq28UniSTS
REN89600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,672,859 - 153,673,105UniSTSGRCh37
Build 36X153,326,053 - 153,326,299RGDNCBI36
CeleraX153,833,902 - 153,834,148RGD
Cytogenetic MapXq28UniSTS
REN89601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,089 - 153,673,340UniSTSGRCh37
Build 36X153,326,283 - 153,326,534RGDNCBI36
CeleraX153,834,132 - 153,834,383RGD
Cytogenetic MapXq28UniSTS
HuRefX142,250,674 - 142,250,925UniSTS
REN89602  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,316 - 153,673,588UniSTSGRCh37
Build 36X153,326,510 - 153,326,782RGDNCBI36
CeleraX153,834,359 - 153,834,631RGD
Cytogenetic MapXq28UniSTS
HuRefX142,250,901 - 142,251,173UniSTS
REN89603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,563 - 153,673,798UniSTSGRCh37
Build 36X153,326,757 - 153,326,992RGDNCBI36
CeleraX153,834,606 - 153,834,841RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,148 - 142,251,383UniSTS
REN89604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,774 - 153,674,022UniSTSGRCh37
Build 36X153,326,968 - 153,327,216RGDNCBI36
CeleraX153,834,817 - 153,835,065RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,359 - 142,251,607UniSTS
REN89605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,985 - 153,674,251UniSTSGRCh37
Build 36X153,327,179 - 153,327,445RGDNCBI36
CeleraX153,835,028 - 153,835,294RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,570 - 142,251,836UniSTS
REN89606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,230 - 153,674,480UniSTSGRCh37
Build 36X153,327,424 - 153,327,674RGDNCBI36
CeleraX153,835,273 - 153,835,523RGD
Cytogenetic MapXq28UniSTS
HuRefX142,251,815 - 142,252,065UniSTS
REN89607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,457 - 153,674,699UniSTSGRCh37
Build 36X153,327,651 - 153,327,893RGDNCBI36
CeleraX153,835,500 - 153,835,742RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,042 - 142,252,284UniSTS
REN89608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,684 - 153,674,914UniSTSGRCh37
Build 36X153,327,878 - 153,328,108RGDNCBI36
CeleraX153,835,727 - 153,835,957RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,269 - 142,252,499UniSTS
REN89609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,881 - 153,675,133UniSTSGRCh37
Build 36X153,328,075 - 153,328,327RGDNCBI36
CeleraX153,835,924 - 153,836,176RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,466 - 142,252,718UniSTS
REN89610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,080 - 153,675,327UniSTSGRCh37
Build 36X153,328,274 - 153,328,521RGDNCBI36
CeleraX153,836,123 - 153,836,370RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,665 - 142,252,912UniSTS
REN89611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,277 - 153,675,531UniSTSGRCh37
Build 36X153,328,471 - 153,328,725RGDNCBI36
CeleraX153,836,320 - 153,836,574RGD
Cytogenetic MapXq28UniSTS
HuRefX142,252,862 - 142,253,116UniSTS
REN89612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,484 - 153,675,735UniSTSGRCh37
Build 36X153,328,678 - 153,328,929RGDNCBI36
CeleraX153,836,527 - 153,836,778RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,069 - 142,253,320UniSTS
REN89613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,716 - 153,675,978UniSTSGRCh37
Build 36X153,328,910 - 153,329,172RGDNCBI36
CeleraX153,836,759 - 153,837,021RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,301 - 142,253,563UniSTS
REN89614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,675,951 - 153,676,200UniSTSGRCh37
Build 36X153,329,145 - 153,329,394RGDNCBI36
CeleraX153,836,994 - 153,837,243RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,536 - 142,253,785UniSTS
REN89615  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,114 - 153,676,365UniSTSGRCh37
Build 36X153,329,308 - 153,329,559RGDNCBI36
CeleraX153,837,157 - 153,837,408RGD
Cytogenetic MapXq28UniSTS
HuRefX142,253,699 - 142,253,950UniSTS
REN89616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,341 - 153,676,573UniSTSGRCh37
Build 36X153,329,535 - 153,329,767RGDNCBI36
CeleraX153,837,384 - 153,837,616RGD
Cytogenetic MapXq28UniSTS
REN89617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,463 - 153,676,708UniSTSGRCh37
Build 36X153,329,657 - 153,329,902RGDNCBI36
CeleraX153,837,506 - 153,837,751RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,048 - 142,254,280UniSTS
REN89618  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,674 - 153,676,914UniSTSGRCh37
Build 36X153,329,868 - 153,330,108RGDNCBI36
CeleraX153,837,717 - 153,837,957RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,246 - 142,254,486UniSTS
REN89619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,894 - 153,677,121UniSTSGRCh37
Build 36X153,330,088 - 153,330,315RGDNCBI36
CeleraX153,837,937 - 153,838,164RGD
Cytogenetic MapXq28UniSTS
REN89620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,104 - 153,677,371UniSTSGRCh37
Build 36X153,330,298 - 153,330,565RGDNCBI36
CeleraX153,838,147 - 153,838,414RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,677 - 142,254,944UniSTS
REN89621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,364 - 153,677,588UniSTSGRCh37
Build 36X153,330,558 - 153,330,782RGDNCBI36
CeleraX153,838,407 - 153,838,631RGD
Cytogenetic MapXq28UniSTS
HuRefX142,254,937 - 142,255,161UniSTS
REN89622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,580 - 153,677,831UniSTSGRCh37
Build 36X153,330,774 - 153,331,025RGDNCBI36
CeleraX153,838,623 - 153,838,874RGD
Cytogenetic MapXq28UniSTS
HuRefX142,255,153 - 142,255,404UniSTS
REN89623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,808 - 153,678,062UniSTSGRCh37
Build 36X153,331,002 - 153,331,256RGDNCBI36
CeleraX153,838,851 - 153,839,105RGD
Cytogenetic MapXq28UniSTS
REN89624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,045 - 153,678,290UniSTSGRCh37
Build 36X153,331,239 - 153,331,484RGDNCBI36
CeleraX153,839,088 - 153,839,333RGD
Cytogenetic MapXq28UniSTS
REN89625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,244 - 153,678,512UniSTSGRCh37
Build 36X153,331,438 - 153,331,706RGDNCBI36
CeleraX153,839,287 - 153,839,555RGD
Cytogenetic MapXq28UniSTS
REN89626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,491 - 153,678,758UniSTSGRCh37
Build 36X153,331,685 - 153,331,952RGDNCBI36
CeleraX153,839,534 - 153,839,801RGD
REN89627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,751 - 153,678,976UniSTSGRCh37
Build 36X153,331,945 - 153,332,170RGDNCBI36
CeleraX153,839,794 - 153,840,019RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,358 - 142,256,583UniSTS
REN89628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,678,953 - 153,679,205UniSTSGRCh37
Build 36X153,332,147 - 153,332,399RGDNCBI36
CeleraX153,839,996 - 153,840,248RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,560 - 142,256,812UniSTS
REN89629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,679,198 - 153,679,454UniSTSGRCh37
Build 36X153,332,392 - 153,332,648RGDNCBI36
CeleraX153,840,241 - 153,840,497RGD
Cytogenetic MapXq28UniSTS
HuRefX142,256,805 - 142,257,061UniSTS
stSG604053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,971 - 153,671,974UniSTSGRCh37
Build 36X153,324,165 - 153,325,168RGDNCBI36
CeleraX153,832,015 - 153,833,018RGD
HuRefX142,248,620 - 142,249,623UniSTS
stSG604055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,404 - 153,673,682UniSTSGRCh37
Build 36X153,326,598 - 153,326,876RGDNCBI36
CeleraX153,834,447 - 153,834,725RGD
HuRefX142,250,989 - 142,251,267UniSTS
stSG604056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,673,716 - 153,674,909UniSTSGRCh37
Build 36X153,326,910 - 153,328,103RGDNCBI36
CeleraX153,834,759 - 153,835,952RGD
HuRefX142,251,301 - 142,252,494UniSTS
stSG604057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,674,890 - 153,676,345UniSTSGRCh37
Build 36X153,328,084 - 153,329,539RGDNCBI36
CeleraX153,835,933 - 153,837,388RGD
HuRefX142,252,475 - 142,253,930UniSTS
stSG604058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,676,345 - 153,677,523UniSTSGRCh37
Build 36X153,329,539 - 153,330,717RGDNCBI36
CeleraX153,837,388 - 153,838,566RGD
HuRefX142,253,930 - 142,255,096UniSTS
stSG604059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,677,505 - 153,678,659UniSTSGRCh37
Build 36X153,330,699 - 153,331,853RGDNCBI36
CeleraX153,838,548 - 153,839,702RGD
GDI1__6799  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,175 - 153,671,983UniSTSGRCh37
Build 36X153,324,369 - 153,325,177RGDNCBI36
CeleraX153,832,219 - 153,833,027RGD
HuRefX142,248,824 - 142,249,632UniSTS
RH77733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,671,663 - 153,671,806UniSTSGRCh37
Build 36X153,324,857 - 153,325,000RGDNCBI36
CeleraX153,832,707 - 153,832,850RGD
Cytogenetic MapXq28UniSTS
HuRefX142,249,312 - 142,249,455UniSTS
GeneMap99-GB4 RH MapX350.95UniSTS
GDI1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X153,670,900 - 153,670,995UniSTSGRCh37
Build 36X153,324,094 - 153,324,189RGDNCBI36
CeleraX153,831,944 - 153,832,039RGD
HuRefX142,248,549 - 142,248,644UniSTS
DXS9771  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
HuRefX142,256,440 - 142,256,585UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2463
Count of miRNA genes:892
Interacting mature miRNAs:1090
Transcripts:ENST00000158526, ENST00000393600, ENST00000464419, ENST00000478509, ENST00000481619, ENST00000490480, ENST00000494278
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 2
Medium 2436 2965 1722 620 1929 461 4354 2183 3726 419 1458 1613 175 1 1204 2788 6 2
Low 3 26 4 4 20 4 2 14 8
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AD001530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU143518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU679052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX936365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR992165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L44140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000158526   ⟹   ENSP00000158526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,444,459 - 154,450,099 (+)Ensembl
RefSeq Acc Id: ENST00000393600   ⟹   ENSP00000377225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,444,141 - 154,450,654 (+)Ensembl
RefSeq Acc Id: ENST00000464419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,444,155 - 154,450,654 (+)Ensembl
RefSeq Acc Id: ENST00000478509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,446,266 - 154,449,135 (+)Ensembl
RefSeq Acc Id: ENST00000481619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,444,248 - 154,449,081 (+)Ensembl
RefSeq Acc Id: ENST00000490480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,445,443 - 154,445,882 (+)Ensembl
RefSeq Acc Id: ENST00000494278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX154,449,887 - 154,450,289 (+)Ensembl
RefSeq Acc Id: NM_004699   ⟹   NP_004690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,444,141 - 154,450,654 (+)NCBI
GRCh37X153,672,473 - 153,679,002 (+)NCBI
Build 36X153,325,702 - 153,332,190 (+)NCBI Archive
CeleraX153,833,529 - 153,840,045 (+)RGD
HuRefX142,251,559 - 142,256,609 (+)ENTREZGENE
CHM1_1X153,584,110 - 153,590,638 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004690   ⟸   NM_004699
- UniProtKB: Q14320 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000377225   ⟸   ENST00000393600
RefSeq Acc Id: ENSP00000158526   ⟸   ENST00000158526

Promoters
RGD ID:6808825
Promoter ID:HG_KWN:68655
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000081643,   OTTHUMT00000081644,   OTTHUMT00000081647,   OTTHUMT00000316579
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,325,046 - 153,326,217 (+)MPROMDB
RGD ID:6808828
Promoter ID:HG_KWN:68656
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000081645
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,326,661 - 153,327,162 (+)MPROMDB
RGD ID:6808829
Promoter ID:HG_KWN:68657
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:OTTHUMT00000081646
Position:
Human AssemblyChrPosition (strand)Source
Build 36X153,327,551 - 153,328,212 (+)MPROMDB
RGD ID:13628628
Promoter ID:EPDNEW_H29552
Type:initiation region
Name:FAM50A_1
Description:family with sequence similarity 50 member A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X154,444,141 - 154,444,201EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
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:10679-156022206)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)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 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 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
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 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 Xq28(chrX:154394598-154554969)x1 copy number loss See cases [RCV000051760] ChrX:154394598..154554969 [GRCh38]
ChrX:153622940..153783184 [GRCh37]
ChrX:153276134..153436378 [NCBI36]
ChrX:Xq28
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: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 Xp22.33-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 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
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
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2 copy number gain See cases [RCV000054320] ChrX:154336596..154642063 [GRCh38]
ChrX:153564946..153870337 [GRCh37]
ChrX:153218140..153523531 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2 copy number gain See cases [RCV000054321] ChrX:154348522..154594454 [GRCh38]
ChrX:153576890..153822717 [GRCh37]
ChrX:153230084..153475911 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2 copy number gain See cases [RCV000054322] ChrX:154394598..154626056 [GRCh38]
ChrX:153622940..153854307 [GRCh37]
ChrX:153276134..153507501 [NCBI36]
ChrX:Xq28
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
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: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: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-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 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 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
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
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 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
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: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-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 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 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 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 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 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
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 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 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 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 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 Xq28(chrX:153727116-154555423)x2 copy number gain See cases [RCV000138393] ChrX:153727116..154555423 [GRCh38]
ChrX:153333946..153783638 [GRCh37]
ChrX:152645765..153436832 [NCBI36]
ChrX:Xq28
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 Xq21.1-28(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 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 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 Xq28(chrX:154348522-154770053)x2 copy number gain See cases [RCV000140492] ChrX:154348522..154770053 [GRCh38]
ChrX:153576890..153998328 [GRCh37]
ChrX:153230084..153651522 [NCBI36]
ChrX:Xq28
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 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 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 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 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: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 Xp22.33-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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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: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
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2 copy number gain See cases [RCV000240046] ChrX:153627408..154089925 [GRCh37]
ChrX:Xq28
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: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
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: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-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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 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:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [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-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 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: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-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 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
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 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:168546-155233731)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 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
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 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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
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 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2 copy number gain See cases [RCV000510362] ChrX:153097608..153681801 [GRCh37]
ChrX:Xq28
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 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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
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 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:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
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:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
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
NC_000023.10:g.(?_153295726)_(153786885_?)dup duplication Severe neonatal-onset encephalopathy with microcephaly [RCV000645139] ChrX:153295726..153786885 [GRCh37]
ChrX:Xq28
pathogenic
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 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
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 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..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 Xq28(chrX:153581543-153858492)x2 copy number gain not provided [RCV000684413] ChrX:153581543..153858492 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4 copy number gain not provided [RCV000684414] ChrX:153621005..153868484 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
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:153560741-153761134)x2 copy number gain not provided [RCV000684744] ChrX:153560741..153761134 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3 copy number gain not provided [RCV000684745] ChrX:153560741..153858492 [GRCh37]
ChrX:Xq28
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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-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 Xq28(chrX:153675171-153692561)x3 copy number gain not provided [RCV000753937] ChrX:153675171..153692561 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:153675171-153692834)x3 copy number gain not provided [RCV000753938] ChrX:153675171..153692834 [GRCh37]
ChrX:Xq28
benign
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 Xq28(chrX:153675171-153717512)x3 copy number gain not provided [RCV000753939] ChrX:153675171..153717512 [GRCh37]
ChrX:Xq28
benign
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 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
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
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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..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
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_004699.4(FAM50A):c.879C>T (p.Asp293=) single nucleotide variant not provided [RCV000906968] ChrX:154450078 [GRCh38]
ChrX:153678426 [GRCh37]
ChrX:Xq28
benign
NC_000023.10:g.(?_152954020)_(154096327_?)del deletion Adrenoleukodystrophy [RCV000815921] ChrX:152954020..154096327 [GRCh37]
ChrX:Xq28
pathogenic
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly) single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254882]|Intellectual disability [RCV001093615]   pathogenic|likely pathogenic
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 Xq28(chrX:153566612-153731506)x2 copy number gain not provided [RCV000847027] ChrX:153566612..153731506 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2 copy number gain not provided [RCV000845970] ChrX:153556428..153868487 [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 Xq28(chrX:153609873-153815499)x3 copy number gain not provided [RCV000847592] ChrX:153609873..153815499 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely 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
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 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_004699.4(FAM50A):c.763G>A (p.Asp255Asn) single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254886]|not provided [RCV001093616]   pathogenic|likely pathogenic
NM_004699.4(FAM50A):c.761A>G (p.Glu254Gly) single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254884]|not provided [RCV001093617]   pathogenic|likely pathogenic
NM_004699.4(FAM50A):c.616T>G (p.Trp206Gly) single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254883]|not provided [RCV001093618]   pathogenic|uncertain significance
NM_004699.4(FAM50A):c.817C>T (p.Arg273Trp) single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254885]|not provided [RCV001093619]   pathogenic|uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_004699.4:c.763G>A single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254886]   pathogenic
NM_004699.4:c.764A>G single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254882]   pathogenic
NM_004699.4:c.616T>G single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254883]   pathogenic
NM_004699.4:c.817C>T single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254885]   pathogenic
NM_004699.4:c.761A>G single nucleotide variant Armfield X-linked mental retardation syndrome [RCV001254884]   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
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18786 AgrOrtholog
COSMIC FAM50A COSMIC
Ensembl Genes ENSG00000071859 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000158526 UniProtKB/TrEMBL
  ENSP00000377225 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000158526 UniProtKB/TrEMBL
  ENST00000393600 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000071859 GTEx
HGNC ID HGNC:18786 ENTREZGENE
Human Proteome Map FAM50A Human Proteome Map
InterPro XAP5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9130 UniProtKB/Swiss-Prot
NCBI Gene 9130 ENTREZGENE
OMIM 300261 OMIM
  300453 OMIM
PANTHER PTHR12722 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam XAP5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134984709 PharmGKB
UniProt B0S8I6_HUMAN UniProtKB/TrEMBL
  FA50A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8KAQ4 UniProtKB/Swiss-Prot
  B2R997 UniProtKB/Swiss-Prot
  Q5HY37 UniProtKB/Swiss-Prot
  Q6PJH5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 FAM50A  family with sequence similarity 50 member A    family with sequence similarity 50, member A  Symbol and/or name change 5135510 APPROVED