MAGEA3 (MAGE family member A3) - Rat Genome Database

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Gene: MAGEA3 (MAGE family member A3) Homo sapiens
Analyze
Symbol: MAGEA3
Name: MAGE family member A3
RGD ID: 1353296
HGNC Page HGNC:6801
Description: Enables caspase binding activity. Involved in negative regulation of autophagy; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway; and negative regulation of protein processing. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen MZ2-D; cancer/testis antigen 1.3; cancer/testis antigen family 1, member 3; CT1.3; HIP8; HYPD; MAGE-3 antigen; MAGE3; MAGEA6; melanoma antigen family A, 3; melanoma antigen family A3; melanoma-associated antigen 3; MGC14613
RGD Orthologs
Mouse
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X152,698,794 - 152,702,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX152,698,767 - 152,702,347 (+)EnsemblGRCh38hg38GRCh38
GRCh37X151,867,272 - 151,870,825 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,685,308 - 151,688,896 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X151,605,220 - 151,608,808NCBI
CeleraX152,112,403 - 152,115,991 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX140,736,139 - 140,739,870 (-)NCBIHuRef
CHM1_1X151,809,270 - 151,812,865 (-)NCBICHM1_1
T2T-CHM13v2.0X150,965,367 - 150,968,920 (+)NCBIT2T-CHM13v2.0
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

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1840703   PMID:7591235   PMID:7757970   PMID:7927540   PMID:8037761   PMID:8113684   PMID:8125298   PMID:8575766   PMID:9044853   PMID:9700202   PMID:10854409   PMID:11691819  
PMID:12097332   PMID:12393675   PMID:12477932   PMID:12710945   PMID:14672620   PMID:15489334   PMID:15885805   PMID:16114059   PMID:16446550   PMID:16516880   PMID:16806467   PMID:17007017  
PMID:17495964   PMID:17634428   PMID:17699848   PMID:18181974   PMID:18197853   PMID:18237105   PMID:18316621   PMID:18330356   PMID:18381936   PMID:18483279   PMID:18505125   PMID:18829569  
PMID:18976975   PMID:18982744   PMID:19261683   PMID:19326132   PMID:19795170   PMID:20015885   PMID:20036422   PMID:20423514   PMID:20591578   PMID:20864041   PMID:21135695   PMID:21264495  
PMID:21273595   PMID:21277283   PMID:21347689   PMID:21452042   PMID:21556122   PMID:21565982   PMID:21804405   PMID:21873635   PMID:21876767   PMID:22134685   PMID:22183072   PMID:22323448  
PMID:22498264   PMID:22925930   PMID:23728352   PMID:24675493   PMID:25031712   PMID:25107531   PMID:25120790   PMID:25564441   PMID:25679763   PMID:25704851   PMID:26612451   PMID:26868260  
PMID:26910052   PMID:27422441   PMID:27466502   PMID:27502712   PMID:27561960   PMID:27635108   PMID:28146422   PMID:28394358   PMID:28401488   PMID:28677424   PMID:28809608   PMID:29058301  
PMID:29708315   PMID:30056111   PMID:30384365   PMID:30588194   PMID:31267705   PMID:31355595   PMID:31918280   PMID:32296183   PMID:32719445   PMID:32814053   PMID:33012505   PMID:33227008  
PMID:33284140   PMID:33743542   PMID:33931137   PMID:33961781   PMID:34166362   PMID:36367777  


Genomics

Comparative Map Data
MAGEA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X152,698,794 - 152,702,347 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX152,698,767 - 152,702,347 (+)EnsemblGRCh38hg38GRCh38
GRCh37X151,867,272 - 151,870,825 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X151,685,308 - 151,688,896 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X151,605,220 - 151,608,808NCBI
CeleraX152,112,403 - 152,115,991 (+)NCBICelera
Cytogenetic MapXq28NCBI
HuRefX140,736,139 - 140,739,870 (-)NCBIHuRef
CHM1_1X151,809,270 - 151,812,865 (-)NCBICHM1_1
T2T-CHM13v2.0X150,965,367 - 150,968,920 (+)NCBIT2T-CHM13v2.0
Magea3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X153,731,176 - 153,742,027 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX153,731,539 - 153,732,501 (-)EnsemblGRCm39 Ensembl
GRCm38X154,948,180 - 154,959,031 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX154,948,543 - 154,949,505 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X151,383,006 - 151,384,112 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X150,289,259 - 150,290,221 (-)NCBIMGSCv36mm8
CeleraX138,271,904 - 138,273,010 (-)NCBICelera
Cytogenetic MapXF3NCBI
cM MapX72.38NCBI
MAGEA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X127,271,604 - 127,276,373 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606565,122,165 - 65,125,813 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in MAGEA3
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
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 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 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)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 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 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: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 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_005362.3(MAGEA3):c.396G>A (p.Lys132=) single nucleotide variant Malignant melanoma [RCV000073119] ChrX:152701228 [GRCh38]
ChrX:151935771 [GRCh37]
ChrX:151686427 [NCBI36]
ChrX:Xq28		 not provided
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)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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 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 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 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 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 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 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 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 Xq28(chrX:151903225-152226301)x3 copy number gain See cases [RCV000240253] ChrX:151903225..152226301 [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
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 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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [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
GRCh37/hg19 Xq28(chrX:151869764-152329158)x3 copy number gain See cases [RCV000449086] ChrX:151869764..152329158 [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 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 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 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:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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: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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-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
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 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28		 pathogenic
GRCh37/hg19 Xq28(chrX:151903225-152027245)x3 copy number gain not provided [RCV000509358] ChrX:151903225..152027245 [GRCh37]
ChrX:Xq28		 not provided
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
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 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:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28		 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 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 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
Single allele duplication not provided [RCV000677984] ChrX:151903225..152087646 [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 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 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 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 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_005362.4(MAGEA3):c.717= (p.Leu239=) variation not provided [RCV001573832] ChrX:152701549 [GRCh38]
ChrX:151870027 [GRCh37]
ChrX:Xq28		 likely benign
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 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [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
NM_005362.4(MAGEA3):c.612C>T (p.Ile204=) single nucleotide variant not provided [RCV000961849] ChrX:152701444 [GRCh38]
ChrX:151869922 [GRCh37]
ChrX:Xq28		 benign
NM_005362.4(MAGEA3):c.467G>A (p.Ser156Asn) single nucleotide variant not provided [RCV000897126] ChrX:152701299 [GRCh38]
ChrX:151869777 [GRCh37]
ChrX:Xq28		 likely benign
NM_005362.4(MAGEA3):c.343G>A (p.Glu115Lys) single nucleotide variant not provided [RCV000900798] ChrX:152701175 [GRCh38]
ChrX:151869653 [GRCh37]
ChrX:Xq28		 likely benign
NM_005362.4(MAGEA3):c.804T>C (p.Cys268=) single nucleotide variant not provided [RCV000970524] ChrX:152701636 [GRCh38]
ChrX:151870114 [GRCh37]
ChrX:Xq28		 benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_005362.4(MAGEA3):c.879C>T (p.Ile293=) single nucleotide variant not provided [RCV000897515] ChrX:152701711 [GRCh38]
ChrX:151870189 [GRCh37]
ChrX:Xq28		 benign
NM_005362.4(MAGEA3):c.309C>T (p.Ser103=) single nucleotide variant not provided [RCV000906227] ChrX:152701141 [GRCh38]
ChrX:151869619 [GRCh37]
ChrX:Xq28		 benign
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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005362.4(MAGEA3):c.466A>G (p.Ser156Gly) single nucleotide variant not provided [RCV000893782] ChrX:152701298 [GRCh38]
ChrX:151869776 [GRCh37]
ChrX:Xq28		 likely benign
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:151908474-152108084)x3 copy number gain not provided [RCV000847602] ChrX:151908474..152108084 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28		 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:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28		 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 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely 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 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_005362.4(MAGEA3):c.435T>C (p.Tyr145=) single nucleotide variant not provided [RCV000963410] ChrX:152701267 [GRCh38]
ChrX:151869745 [GRCh37]
ChrX:Xq28		 benign
NM_005362.4(MAGEA3):c.927G>T (p.Leu309Phe) single nucleotide variant not provided [RCV000958043] ChrX:152701759 [GRCh38]
ChrX:151870237 [GRCh37]
ChrX:Xq28		 benign
NM_005362.4(MAGEA3):c.923T>C (p.Val308Ala) single nucleotide variant not provided [RCV000958044] ChrX:152701755 [GRCh38]
ChrX:151870233 [GRCh37]
ChrX:Xq28		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NM_005363.5(MAGEA6):c.421G>A (p.Gly141Arg) single nucleotide variant not provided [RCV000971989] ChrX:152767230 [GRCh38]
ChrX:151935746 [GRCh37]
ChrX:Xq28		 likely benign
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 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:151869764-152329158) copy number gain not specified [RCV002053200] ChrX:151869764..152329158 [GRCh37]
ChrX:Xq28		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV001839062] ChrX:140888048..154656872 [GRCh38]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151894071-152112980) copy number gain not specified [RCV002053201] ChrX:151894071..152112980 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1 copy number loss See cases [RCV002292203] ChrX:142401540..155233731 [GRCh37]
ChrX:Xq27.3-28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:124749464..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
NM_005363.5(MAGEA6):c.760A>G (p.Asn254Asp) single nucleotide variant not specified [RCV004235344] ChrX:152701592 [GRCh38]
ChrX:151935407 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.895A>G (p.Ile299Val) single nucleotide variant not specified [RCV004202129] ChrX:152701727 [GRCh38]
ChrX:151935272 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.100G>C (p.Glu34Gln) single nucleotide variant not specified [RCV004220577] ChrX:152700932 [GRCh38]
ChrX:151936067 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.889C>G (p.Pro297Ala) single nucleotide variant not specified [RCV004206674] ChrX:152701721 [GRCh38]
ChrX:151935278 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.374G>A (p.Arg125Gln) single nucleotide variant not specified [RCV004247211] ChrX:152701206 [GRCh38]
ChrX:151935793 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.835A= (p.Ile279=) single nucleotide variant not specified [RCV004093287] ChrX:152701667 [GRCh38]
ChrX:151935332 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.521A>G (p.His174Arg) single nucleotide variant not specified [RCV004168713] ChrX:152701353 [GRCh38]
ChrX:151935646 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.892C>A (p.Arg298Ser) single nucleotide variant not specified [RCV004143782] ChrX:152701724 [GRCh38]
ChrX:151935275 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.206C>A (p.Ser69Tyr) single nucleotide variant not specified [RCV004094679] ChrX:152701038 [GRCh38]
ChrX:151935961 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.329G>A (p.Ser110Asn) single nucleotide variant not specified [RCV004088480] ChrX:152701161 [GRCh38]
ChrX:151935838 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.697G>A (p.Gly233Arg) single nucleotide variant not specified [RCV004160314] ChrX:152701529 [GRCh38]
ChrX:151935470 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.83C>T (p.Ala28Val) single nucleotide variant not specified [RCV004187722] ChrX:152700915 [GRCh38]
ChrX:151936084 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.933G>T (p.Glu311Asp) single nucleotide variant not specified [RCV004314081] ChrX:152701765 [GRCh38]
ChrX:151935234 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.418G>A (p.Val140Ile) single nucleotide variant not specified [RCV004413472] ChrX:152701250 [GRCh38]
ChrX:151935749 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.311A>G (p.Glu104Gly) single nucleotide variant not specified [RCV004350008] ChrX:152701143 [GRCh38]
ChrX:151935856 [GRCh37]
ChrX:Xq28		 likely benign
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:118576752..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151935519-152329158)x3 copy number gain not provided [RCV003485332] ChrX:151935519..152329158 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:119071609..155233731 [GRCh37]
ChrX:Xq24-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151894072-152228928)x2 copy number gain not provided [RCV003483983] ChrX:151894072..152228928 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.627C>T (p.Ile209=) single nucleotide variant not provided [RCV003432552] ChrX:152701459 [GRCh38]
ChrX:151935540 [GRCh37]
ChrX:Xq28		 likely benign
NM_005363.5(MAGEA6):c.725C>T (p.Pro242Leu) single nucleotide variant not specified [RCV004413473] ChrX:152701557 [GRCh38]
ChrX:151935442 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.349G>A (p.Val117Ile) single nucleotide variant not specified [RCV004413471] ChrX:152701181 [GRCh38]
ChrX:151935818 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:103405294..155233731 [GRCh37]
ChrX:Xq22.2-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151869764-152155626) copy number gain not specified [RCV003986218] ChrX:151869764..152155626 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:119395676..154930047 [GRCh37]
ChrX:Xq24-28		 pathogenic
NM_005363.5(MAGEA6):c.901T>C (p.Tyr301His) single nucleotide variant not specified [RCV004413476] ChrX:152701733 [GRCh38]
ChrX:151935266 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:121656905..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:125253445..155233098 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
NM_005363.5(MAGEA6):c.336G>C (p.Lys112Asn) single nucleotide variant not specified [RCV004413470] ChrX:152701168 [GRCh38]
ChrX:151935831 [GRCh37]
ChrX:Xq28		 uncertain significance
NM_005363.5(MAGEA6):c.880A>G (p.Ser294Gly) single nucleotide variant not specified [RCV004413475] ChrX:152701712 [GRCh38]
ChrX:151935287 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1 copy number loss not provided [RCV003483936] ChrX:148598351..154943978 [GRCh37]
ChrX:Xq28		 pathogenic
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: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
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:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq28(chrX:151869765-152101001)x3 copy number gain not provided [RCV002472806] ChrX:151869765..152101001 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq28(chrX:151869765-152149222)x2 copy number gain not provided [RCV001834413] ChrX:151869765..152149222 [GRCh37]
ChrX:Xq28		 uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) copy number gain Syndromic X-linked intellectual disability Lubs type [RCV003214133] ChrX:139586015..154774957 [GRCh37]
ChrX:Xq27.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1019
Count of miRNA genes:529
Interacting mature miRNAs:576
Transcripts:ENST00000370278, ENST00000393902, ENST00000417212
Prediction methods:Miranda, Pita, Rnahybrid
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.

Markers in Region
GDB:581707  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X151,935,551 - 151,936,355UniSTSGRCh37
Build 36X151,686,207 - 151,687,011RGDNCBI36
CeleraX152,114,288 - 152,115,092RGD
Cytogenetic MapXq28UniSTS
MAGEA3_8451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X151,934,485 - 151,935,301UniSTSGRCh37
GRCh37X151,870,176 - 151,870,992UniSTSGRCh37
Build 36X151,620,832 - 151,621,648RGDNCBI36
CeleraX152,115,342 - 152,116,158RGD
HuRefX140,735,972 - 140,736,788UniSTS
SHGC-35597  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
Stanford-G3 RH MapX4402.0UniSTS
GeneMap99-GB4 RH MapX349.33UniSTS
Whitehead-RH MapX314.8UniSTS
NCBI RH MapX730.5UniSTS
SHGC-35594  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 57 41 36 34 38 83 20 38 13 273 129 3 2
Low 23 2 26 17 28 18 22 13 27 10 166 53 2 9
Below cutoff 329 574 258 70 243 54 704 319 576 37 182 277 20 176 489 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC244102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF002997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX658036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370278   ⟹   ENSP00000359301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX152,698,794 - 152,702,347 (+)Ensembl
RefSeq Acc Id: ENST00000417212   ⟹   ENSP00000392758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX152,698,767 - 152,701,427 (+)Ensembl
RefSeq Acc Id: ENST00000598245   ⟹   ENSP00000473093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX152,698,767 - 152,702,336 (+)Ensembl
RefSeq Acc Id: NM_005362   ⟹   NP_005353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,698,794 - 152,702,347 (+)NCBI
GRCh37X151,934,652 - 151,938,250 (-)NCBI
Build 36X151,685,308 - 151,688,896 (-)NCBI Archive
HuRefX140,736,139 - 140,739,870 (-)ENTREZGENE
CHM1_1X151,741,886 - 151,745,481 (+)NCBI
T2T-CHM13v2.0X150,965,367 - 150,968,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274676   ⟹   XP_005274733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,698,794 - 152,702,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724818   ⟹   XP_006724881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,698,794 - 152,702,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531160   ⟹   XP_011529462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,698,794 - 152,702,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531161   ⟹   XP_011529463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X152,699,306 - 152,702,347 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054327057   ⟹   XP_054183032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X150,965,367 - 150,968,920 (+)NCBI
Protein Sequences
Protein RefSeqs NP_005353 (Get FASTA)   NCBI Sequence Viewer  
  XP_005274733 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724881 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529462 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054183032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189314 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189315 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA17446 (Get FASTA)   NCBI Sequence Viewer  
  AAH00340 (Get FASTA)   NCBI Sequence Viewer  
  AAH05963 (Get FASTA)   NCBI Sequence Viewer  
  AAH11744 (Get FASTA)   NCBI Sequence Viewer  
  AAH16803 (Get FASTA)   NCBI Sequence Viewer  
  AAH17389 (Get FASTA)   NCBI Sequence Viewer  
  BAD97239 (Get FASTA)   NCBI Sequence Viewer  
  BAF85073 (Get FASTA)   NCBI Sequence Viewer  
  CAD79829 (Get FASTA)   NCBI Sequence Viewer  
  CAG46566 (Get FASTA)   NCBI Sequence Viewer  
  CAG46567 (Get FASTA)   NCBI Sequence Viewer  
  CAG46573 (Get FASTA)   NCBI Sequence Viewer  
  CAG46817 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359301
  ENSP00000359301.3
  ENSP00000392758.1
  ENSP00000473093
  ENSP00000473093.1
  ENSP00000517961.1
  ENSP00000517962.1
GenBank Protein P43357 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005353   ⟸   NM_005362
- UniProtKB: Q6FHI6 (UniProtKB/Swiss-Prot),   P43357 (UniProtKB/Swiss-Prot),   Q53EX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274733   ⟸   XM_005274676
- Peptide Label: isoform X1
- UniProtKB: Q6FHI6 (UniProtKB/Swiss-Prot),   P43357 (UniProtKB/Swiss-Prot),   Q53EX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724881   ⟸   XM_006724818
- Peptide Label: isoform X1
- UniProtKB: Q6FHI6 (UniProtKB/Swiss-Prot),   P43357 (UniProtKB/Swiss-Prot),   Q53EX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529462   ⟸   XM_011531160
- Peptide Label: isoform X1
- UniProtKB: Q6FHI6 (UniProtKB/Swiss-Prot),   P43357 (UniProtKB/Swiss-Prot),   Q53EX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529463   ⟸   XM_011531161
- Peptide Label: isoform X1
- UniProtKB: Q6FHI6 (UniProtKB/Swiss-Prot),   P43357 (UniProtKB/Swiss-Prot),   Q53EX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000359301   ⟸   ENST00000370278
RefSeq Acc Id: ENSP00000473093   ⟸   ENST00000598245
RefSeq Acc Id: ENSP00000392758   ⟸   ENST00000417212
RefSeq Acc Id: XP_054183032   ⟸   XM_054327057
- Peptide Label: isoform X1
- UniProtKB: P43360 (UniProtKB/Swiss-Prot),   A8IF93 (UniProtKB/Swiss-Prot),   Q6NW44 (UniProtKB/Swiss-Prot)
Protein Domains
MAGE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43357-F1-model_v2 AlphaFold P43357 1-314 view protein structure

Promoters
RGD ID:13628364
Promoter ID:EPDNEW_H29457
Type:initiation region
Name:MAGEA3_1
Description:MAGE family member A3
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
GRCh38X152,698,770 - 152,698,830EPDNEW
RGD ID:6853012
Promoter ID:EP74327
Type:multiple initiation site
Name:HS_MAGEA3
Description:Melanoma antigen, family A, 3.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6801 AgrOrtholog
COSMIC MAGEA3 COSMIC
Ensembl Genes ENSG00000221867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000292186 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000370278 ENTREZGENE
  ENST00000370278.4 UniProtKB/Swiss-Prot
  ENST00000417212.5 UniProtKB/TrEMBL
  ENST00000598245 ENTREZGENE
  ENST00000598245.2 UniProtKB/Swiss-Prot
  ENST00000709974.1 UniProtKB/Swiss-Prot
  ENST00000709975.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.1200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.10.10.1210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000221867 GTEx
  ENSG00000292186 GTEx
HGNC ID HGNC:6801 ENTREZGENE
Human Proteome Map MAGEA3 Human Proteome Map
InterPro MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4102 UniProtKB/Swiss-Prot
NCBI Gene 4102 ENTREZGENE
OMIM 300174 OMIM
PANTHER PTHR11736 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11736:SF60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30547 PharmGKB
PROSITE MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MAGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8IF93 ENTREZGENE
  E7EMU0_HUMAN UniProtKB/TrEMBL
  MAGA3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P43360 ENTREZGENE
  Q53EX0 ENTREZGENE, UniProtKB/TrEMBL
  Q6FHI6 ENTREZGENE
  Q6NW44 ENTREZGENE
UniProt Secondary Q6FHI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 MAGEA3  MAGE family member A3  MAGEA3  melanoma antigen family A3  Symbol and/or name change 5135510 APPROVED
2015-02-10 MAGEA3  melanoma antigen family A3  MAGEA3  melanoma antigen family A, 3  Symbol and/or name change 5135510 APPROVED