MAGEH1 (MAGE family member H1) - Rat Genome Database

Name: MAGEH1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: MAGEH1 (MAGE family member H1) Homo sapiens

Analyze

Symbol:

MAGEH1

Name:

MAGE family member H1

RGD ID:

1349577

HGNC Page

HGNC:24092

Description:

Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

apoptosis-related protein 1; APR-1; APR1; MAGE-H1 antigen; MAGEH; melanoma antigen family H, 1; melanoma antigen family H1; melanoma antigen, family H, 1 protein; melanoma-associated antigen H1; restin

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Mageh1 (MAGE family member H1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Mageh1 (MAGE family member H1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Mageh1 (MAGE family member H1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	MAGEH1 (MAGE family member H1)	NCBI	Ortholog
Canis lupus familiaris (dog):	MAGEH1 (MAGE family member H1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Mageh1 (MAGE family member H1)	NCBI	Ortholog
Sus scrofa (pig):	MAGEH1 (MAGE family member H1)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	MAGEH1 (MAGE family member H1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Mageh1 (MAGE family member H1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Mageh1 (MAGE family member H1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	MAGE	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	NSE3	Alliance	DIOPT (Hieranoid\|InParanoid\|PANTHER)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	55,452,127 - 55,453,566 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	55,452,127 - 55,453,566 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	55,478,560 - 55,479,999 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	55,495,263 - 55,496,724 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	55,361,558 - 55,363,019	NCBI
Celera	X	59,313,626 - 59,315,087 (+)	NCBI		Celera
Cytogenetic Map	X	p11.21	NCBI
HuRef	X	52,527,206 - 52,528,667 (+)	NCBI		HuRef
CHM1_1	X	55,468,683 - 55,470,144 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	54,745,295 - 54,746,734 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

genetic disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

all-trans-retinoic acid (EXP)

Aroclor 1254 (ISO)

benzo[a]pyrene (EXP)

beta-naphthoflavone (ISO)

bisphenol A (EXP,ISO)

butanal (EXP)

carbon nanotube (ISO)

cisplatin (EXP)

clobetasol (ISO)

clofibrate (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

dexamethasone (EXP)

diazinon (ISO)

dieldrin (ISO)

doxorubicin (EXP)

endosulfan (ISO)

FR900359 (EXP)

genistein (EXP)

gentamycin (ISO)

indometacin (EXP)

leflunomide (EXP)

methapyrilene (ISO)

N-methyl-4-phenylpyridinium (ISO)

N-nitrosodiethylamine (ISO)

paracetamol (ISO)

pentanal (EXP)

potassium chromate (EXP)

propanal (EXP)

rotenone (ISO)

sodium arsenite (EXP)

sodium dodecyl sulfate (EXP)

tetrachloromethane (ISO)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (TAS)

negative regulation of transcription by RNA polymerase II (IBA)

Cellular Component

nucleus (IBA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	The p75 neurotrophin receptor interacts with multiple MAGE proteins.	Tcherpakov M, etal., J Biol Chem 2002 Dec 20;277(51):49101-4.

Additional References at PubMed

PMID:10948432	PMID:11454705	PMID:12477932	PMID:15383276	PMID:15489334	PMID:15694019	PMID:15772651	PMID:16169070	PMID:16189514	PMID:16574066	PMID:18759029	PMID:20088962
PMID:21364888	PMID:21418516	PMID:21832049	PMID:21873635	PMID:21988832	PMID:24665060	PMID:25366798	PMID:25416956	PMID:26572808	PMID:29316827	PMID:30021884	PMID:32296183
PMID:32814053	PMID:35914814

Genomics

Comparative Map Data

MAGEH1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	55,452,127 - 55,453,566 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	55,452,127 - 55,453,566 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	55,478,560 - 55,479,999 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	55,495,263 - 55,496,724 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	55,361,558 - 55,363,019	NCBI
Celera	X	59,313,626 - 59,315,087 (+)	NCBI		Celera
Cytogenetic Map	X	p11.21	NCBI
HuRef	X	52,527,206 - 52,528,667 (+)	NCBI		HuRef
CHM1_1	X	55,468,683 - 55,470,144 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	54,745,295 - 54,746,734 (+)	NCBI		T2T-CHM13v2.0

Mageh1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	151,819,162 - 151,820,559 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	151,819,162 - 151,820,571 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	153,036,166 - 153,037,563 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	153,036,166 - 153,037,575 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	149,470,709 - 149,472,106 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	148,376,882 - 148,378,068 (-)	NCBI		MGSCv36	mm8
Celera	X	136,216,806 - 136,218,203 (+)	NCBI		Celera
Cytogenetic Map	X	F3	NCBI
cM Map	X	68.46	NCBI

Mageh1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	21,725,709 - 21,726,965 (+)	NCBI		GRCr8
mRatBN7.2	X	18,350,015 - 18,351,271 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	18,349,774 - 18,351,516 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	15,752,307 - 15,753,562 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	24,371,393 - 24,372,648 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	18,811,379 - 18,812,635 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	19,243,759 - 19,245,015 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	19,243,759 - 19,245,007 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	20,009,490 - 20,010,746 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	38,583,719 - 38,584,975 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	38,637,191 - 38,638,444 (-)	NCBI
Celera	X	18,623,129 - 18,624,385 (+)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Mageh1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955475	2,600,868 - 2,601,566 (+)	NCBI	ChiLan1.0	ChiLan1.0

MAGEH1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	56,882,317 - 56,883,786 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	56,885,937 - 56,887,393 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	47,713,202 - 47,714,658 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	55,900,707 - 55,902,177 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	55,900,986 - 55,901,645 (+)	Ensembl	panpan1.1		panPan2

MAGEH1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	47,025,749 - 47,027,205 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	47,026,020 - 47,026,679 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	38,261,290 - 38,262,742 (+)	NCBI		Dog10K_Boxer_Tasha

Mageh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	39,946,480 - 39,947,939 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936819	1,086,655 - 1,088,123 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MAGEH1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	48,080,540 - 48,081,958 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	48,080,533 - 48,081,983 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	54,057,688 - 54,059,138 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

MAGEH1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666086	5,535,181 - 5,535,831 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in MAGEH1
13 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 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:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-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 Xp11.22-11.21(chrX:51664377-58055036)x3	copy number gain	See cases [RCV000052392]	ChrX:51664377..58055036 [GRCh38] ChrX:51407309..58081470 [GRCh37] ChrX:51424049..58098195 [NCBI36] ChrX:Xp11.22-11.21	pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	copy number gain	See cases [RCV000052393]	ChrX:52363196..58455952 [GRCh38] ChrX:52175778..58482385 [GRCh37] ChrX:52123054..58499110 [NCBI36] ChrX:Xp11.22-11.1	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 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
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_014061.4(MAGEH1):c.564T>G (p.Ser188=)	single nucleotide variant	Malignant melanoma [RCV000073226]	ChrX:55452938 [GRCh38] ChrX:55479371 [GRCh37] ChrX:55496096 [NCBI36] ChrX:Xp11.21	not provided
NM_014061.4(MAGEH1):c.512C>T (p.Ser171Leu)	single nucleotide variant	Malignant melanoma [RCV000063970]	ChrX:55452886 [GRCh38] ChrX:55479319 [GRCh37] ChrX:55496044 [NCBI36] ChrX:Xp11.21	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 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)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 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 Xp11.22-q21.31(chrX:53985575-92203108)x1	copy number loss	See cases [RCV000135306]	ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31	pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:53764152-58014767)x2	copy number gain	See cases [RCV000135877]	ChrX:53764152..58014767 [GRCh38] ChrX:53790650..58041201 [GRCh37] ChrX:53807375..58057926 [NCBI36] ChrX:Xp11.22-11.21	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 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 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	copy number gain	See cases [RCV000135958]	ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2	copy number gain	See cases [RCV000137412]	ChrX:53750365..63089185 [GRCh38] ChrX:53776863..62203737 [GRCh37] ChrX:53793588..62225380 [NCBI36] ChrX:Xp11.22-q11.1	pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:51654792-58469500)x1	copy number loss	See cases [RCV000142036]	ChrX:51654792..58469500 [GRCh38] ChrX:51397726..58495933 [GRCh37] ChrX:51414466..58512658 [NCBI36] ChrX:Xp11.22-11.1	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp11.22-q11.2(chrX:52809123-65305544)x3	copy number gain	See cases [RCV000142756]	ChrX:52809123..65305544 [GRCh38] ChrX:52838147..64525424 [GRCh37] ChrX:52854872..64442149 [NCBI36] ChrX:Xp11.22-q11.2	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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: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 Xp11.22-q12(chrX:53085607-67176333)x2	copy number gain	See cases [RCV000239889]	ChrX:53085607..67176333 [GRCh37] ChrX:Xp11.22-q12	pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	copy number loss	See cases [RCV000511311]	ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1	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 Xp11.22-11.21(chrX:53220822-58066465)x3	copy number gain	See cases [RCV000240407]	ChrX:53220822..58066465 [GRCh37] ChrX:Xp11.22-11.21	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: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 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
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 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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-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 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:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	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\|uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	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
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_014061.5(MAGEH1):c.457C>T (p.Arg153Cys)	single nucleotide variant	Inborn genetic diseases [RCV003302557]	ChrX:55452831 [GRCh38] ChrX:55479264 [GRCh37] ChrX:Xp11.21	uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1	copy number loss	not provided [RCV000753535]	ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_014061.5(MAGEH1):c.613G>A (p.Val205Ile)	single nucleotide variant	Inborn genetic diseases [RCV003267048]	ChrX:55452987 [GRCh38] ChrX:55479420 [GRCh37] ChrX:Xp11.21	uncertain significance
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	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 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 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 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [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 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
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 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	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 Xp11.22-11.21(chrX:52881435-55684871)	copy number gain	not specified [RCV002053131]	ChrX:52881435..55684871 [GRCh37] ChrX:Xp11.22-11.21	likely pathogenic
GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2	copy number gain	not provided [RCV001834255]	ChrX:52901458..55684871 [GRCh37] ChrX:Xp11.22-11.21	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 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	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 Xp11.22-q11.2(chrX:53731940-63932866)x3	copy number gain	not provided [RCV002472635]	ChrX:53731940..63932866 [GRCh37] ChrX:Xp11.22-q11.2	likely pathogenic
NM_014061.5(MAGEH1):c.236T>G (p.Val79Gly)	single nucleotide variant	Inborn genetic diseases [RCV002902043]	ChrX:55452610 [GRCh38] ChrX:55479043 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.638C>T (p.Ala213Val)	single nucleotide variant	Inborn genetic diseases [RCV002865215]	ChrX:55453012 [GRCh38] ChrX:55479445 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.425G>C (p.Arg142Pro)	single nucleotide variant	Inborn genetic diseases [RCV002768343]	ChrX:55452799 [GRCh38] ChrX:55479232 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.479A>C (p.Glu160Ala)	single nucleotide variant	Inborn genetic diseases [RCV002768344]	ChrX:55452853 [GRCh38] ChrX:55479286 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.44C>G (p.Ala15Gly)	single nucleotide variant	Inborn genetic diseases [RCV002826923]	ChrX:55452418 [GRCh38] ChrX:55478851 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.370C>T (p.Arg124Cys)	single nucleotide variant	Inborn genetic diseases [RCV003385350]	ChrX:55452744 [GRCh38] ChrX:55479177 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.220G>A (p.Ala74Thr)	single nucleotide variant	Inborn genetic diseases [RCV003383113]	ChrX:55452594 [GRCh38] ChrX:55479027 [GRCh37] ChrX:Xp11.21	uncertain significance
NM_014061.5(MAGEH1):c.99C>T (p.Thr33=)	single nucleotide variant	not provided [RCV003430539]	ChrX:55452473 [GRCh38] ChrX:55478906 [GRCh37] ChrX:Xp11.21	likely benign
NM_014061.5(MAGEH1):c.204C>T (p.Ala68=)	single nucleotide variant	not provided [RCV003430540]	ChrX:55452578 [GRCh38] ChrX:55479011 [GRCh37] ChrX:Xp11.21	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	181
Count of miRNA genes:	172
Interacting mature miRNAs:	177
Transcripts:	ENST00000342972
Prediction methods:	Miranda, 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

WI-19776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	55,479,666 - 55,479,922	UniSTS	GRCh37
Build 36	X	55,496,391 - 55,496,647	RGD	NCBI36
Celera	X	59,314,754 - 59,315,010	RGD
Cytogenetic Map	X	p11.21	UniSTS
HuRef	X	52,528,334 - 52,528,590	UniSTS
GeneMap99-GB4 RH Map	X	171.0	UniSTS
Whitehead-RH Map	X	97.3	UniSTS

DXS8146

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	55,479,861 - 55,479,972	UniSTS	GRCh37
Build 36	X	55,496,586 - 55,496,697	RGD	NCBI36
Celera	X	59,314,949 - 59,315,060	RGD
Cytogenetic Map	X	p11.21	UniSTS
GeneMap99-GB4 RH Map	X	180.51	UniSTS
Whitehead-RH Map	X	103.0	UniSTS
Whitehead-YAC Contig Map	X		UniSTS

STS-N25539

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	55,479,757 - 55,479,965	UniSTS	GRCh37
Build 36	X	55,496,482 - 55,496,690	RGD	NCBI36
Celera	X	59,314,845 - 59,315,053	RGD
Cytogenetic Map	X	p11.21	UniSTS
GeneMap99-GB4 RH Map	X	171.58	UniSTS

MAGEH1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	55,479,248 - 55,479,445	UniSTS	GRCh37
Celera	X	59,314,336 - 59,314,533	UniSTS
HuRef	X	52,527,916 - 52,528,113	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2162

1944

1496

397

1113

250

3125

1195

3624

358

1344

1508

151

1204

1810

Low

194

1014

224

221

800

208

1229

999

106

978

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_013248	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA634056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF143235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF320912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI191172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL590410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011954	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI916425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471154	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS185548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000342972 ⟹ ENSP00000343706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	55,452,127 - 55,453,566 (+)	Ensembl

RefSeq Acc Id:

NM_014061 ⟹ NP_054780

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	55,452,127 - 55,453,566 (+)	NCBI
GRCh37	X	55,478,538 - 55,479,999 (+)	RGD
Build 36	X	55,495,263 - 55,496,724 (+)	NCBI Archive
Celera	X	59,313,626 - 59,315,087 (+)	RGD
HuRef	X	52,527,190 - 52,528,668 (+)	NCBI
CHM1_1	X	55,468,667 - 55,470,146 (+)	NCBI
T2T-CHM13v2.0	X	54,745,295 - 54,746,734 (+)	NCBI

Sequence:

show sequence

AATTTTGCTGAGCTTTCTCGCGGGCTTGCAGCTGCGGCAAGTGCTGGCGGCGGCTGCTCGCGCA
AGTCAGCTGGCGTGGGAACTACCCTTTGTAGCTGAGAACGGCTTGTTTATTGCTACAAAGACTC
TATTGACATTGGTAGCTTCAGCGGCAGCAGCTTCTTACGGTATAAAGCTGTTGCTTCCTGAAGA
GGCTACAAGCATCCTTCCCTAGGACTGCTGTAAGCTTTGAGCCTCTAGCAGGAGACATGCCTCG
GGGACGAAAGAGTCGGCGCCGCCGTAATGCGAGAGCCGCAGAAGAGAACCGCAACAATCGCAAA
ATCCAGGCCTCAGAGGCCTCCGAGACCCCTATGGCCGCCTCTGTGGTAGCGAGCACCCCCGAAG
ACGACCTGAGCGGCCCCGAGGAAGACCCGAGCACTCCAGAGGAGGCCTCTACCACCCCTGAAGA
AGCCTCGAGCACTGCCCAAGCACAAAAGCCTTCAGTGCCCCGGAGCAATTTTCAGGGCACCAAG
AAAAGTCTCCTGATGTCTATATTAGCGCTCATCTTCATCATGGGCAACAGCGCCAAGGAAGCTC
TGGTCTGGAAAGTGCTGGGGAAGTTAGGAATGCAGCCTGGACGTCAGCACAGCATCTTTGGAGA
TCCGAAGAAGATCGTCACAGAAGAGTTTGTGCGCAGAGGGTACCTGATTTATAAACCGGTGCCC
CGTAGCAGTCCGGTGGAGTATGAGTTCTTCTGGGGGCCCCGAGCACACGTGGAATCGAGCAAAC
TGAAAGTCATGCATTTTGTGGCAAGGGTTCGTAACCGATGCTCTAAAGACTGGCCTTGTAATTA
TGACTGGGATTCGGACGATGATGCAGAGGTTGAGGCTATCCTCAATTCAGGTGCTAGGGGTTAT
TCCGCCCCTTAAGTAGATCTGAGGCAGACCCTTGGGGGTGTAAAAGAGAGTCACAGGTACCCCA
AGGAGTAGATGCCAGGGTCCTAAGTTGAAAATGATGTCGATTGGGGGCGGGGGACACTGTATTT
GATATTTGTGATCAGTGATCATTGTTCAACTGCGAAATAGAGTGTTTGCTTTTGATAATGGAAA
ATTGTATTCGTTTTAAAATTCCGTTTGTTGAGAATAACAATATGTTTAAAAATATAATTGAACA
AATTTTTTTCTTTGTTTCCTGTCATTGACATTTAGTATAACAGTTTTGCTAACGTTCTAAAATG
AAGTCGTTCCATCATAATCTATGATCTTGTACAGCACTTATAGAAATAAGCTGTTCTTTTGAAG
TTGAAATACCCAGTAAAATGTTGAAGAAGGATGGAGGATTTCTTCATATCTGACGTTTCTGAAA
CCCTTTGTGTCTGCTGTTGTGTGAAGATTGACATTTACCATGATTTTCCTTAGTTACTGCAGAA
CATAGAGAAAAATAAAAGCCTAACGAATAGTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_054780	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD31314	(Get FASTA)	NCBI Sequence Viewer
	AAG38608	(Get FASTA)	NCBI Sequence Viewer
	AAH11954	(Get FASTA)	NCBI Sequence Viewer
	BAG36306	(Get FASTA)	NCBI Sequence Viewer
	CAJ42729	(Get FASTA)	NCBI Sequence Viewer
	EAW93221	(Get FASTA)	NCBI Sequence Viewer
	EAW93222	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000343706
	ENSP00000343706.1
GenBank Protein	Q9H213	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_054780 ⟸ NM_014061

- UniProtKB:

Q5JRJ3 (UniProtKB/Swiss-Prot), B2R8V9 (UniProtKB/Swiss-Prot), Q9Y5M2 (UniProtKB/Swiss-Prot), Q9H213 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MPRGRKSRRRRNARAAEENRNNRKIQASEASETPMAASVVASTPEDDLSGPEEDPSTPEEASTT
PEEASSTAQAQKPSVPRSNFQGTKKSLLMSILALIFIMGNSAKEALVWKVLGKLGMQPGRQHSI
FGDPKKIVTEEFVRRGYLIYKPVPRSSPVEYEFFWGPRAHVESSKLKVMHFVARVRNRCSKDWP
CNYDWDSDDDAEVEAILNSGARGYSAP

hide sequence

RefSeq Acc Id:

ENSP00000343706 ⟸ ENST00000342972

Protein Domains

MAGE

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H213-F1-model_v2	AlphaFold	Q9H213	1-219	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24092	AgrOrtholog
COSMIC	MAGEH1	COSMIC
Ensembl Genes	ENSG00000187601	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000342972	ENTREZGENE
	ENST00000342972.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.10.1210	UniProtKB/Swiss-Prot
GTEx	ENSG00000187601	GTEx
HGNC ID	HGNC:24092	ENTREZGENE
Human Proteome Map	MAGEH1	Human Proteome Map
InterPro	MAGE	UniProtKB/Swiss-Prot
	MAGE_WH2	UniProtKB/Swiss-Prot
	MHD_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:28986	UniProtKB/Swiss-Prot
NCBI Gene	28986	ENTREZGENE
OMIM	300548	OMIM
PANTHER	MELANOMA-ASSOCIATED ANTIGEN H1	UniProtKB/Swiss-Prot
	PTHR11736	UniProtKB/Swiss-Prot
Pfam	MAGE	UniProtKB/Swiss-Prot
PharmGKB	PA128394650	PharmGKB
PROSITE	MAGE	UniProtKB/Swiss-Prot
SMART	MAGE	UniProtKB/Swiss-Prot
UniProt	B2R8V9	ENTREZGENE
	MAGH1_HUMAN	UniProtKB/Swiss-Prot
	Q5JRJ3	ENTREZGENE
	Q9H213	ENTREZGENE
	Q9Y5M2	ENTREZGENE
UniProt Secondary	B2R8V9	UniProtKB/Swiss-Prot
	Q5JRJ3	UniProtKB/Swiss-Prot
	Q9Y5M2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	MAGEH1	MAGE family member H1	MAGEH1	melanoma antigen family H1	Symbol and/or name change	5135510	APPROVED
2015-02-10	MAGEH1	melanoma antigen family H1	MAGEH1	melanoma antigen family H, 1	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar