MXRA5 (matrix remodeling associated 5) - Rat Genome Database

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Gene: MXRA5 (matrix remodeling associated 5) Homo sapiens
Analyze
Symbol: MXRA5
Name: matrix remodeling associated 5
RGD ID: 1344277
HGNC Page HGNC
Description: An extracellular matrix structural constituent. Involved in response to transforming growth factor beta. Localizes to collagen-containing extracellular matrix and extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: adhesion protein with leucine-rich repeats and Immunoglobulin domains related to perlecan; adlican; DKFZp564I1922; matrix-remodeling-associated protein 5; matrix-remodelling associated 5
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MXRA5Y  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX3,308,565 - 3,346,652 (-)EnsemblGRCh38hg38GRCh38
GRCh38X3,308,565 - 3,346,652 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X3,226,606 - 3,264,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X3,236,606 - 3,274,681 (-)NCBINCBI36hg18NCBI36
CeleraX7,506,768 - 7,545,904 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX1,169,098 - 1,208,180 (-)NCBIHuRef
CHM1_1X3,257,299 - 3,295,226 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12101425   PMID:12477932   PMID:15203218   PMID:15489334   PMID:15609104   PMID:19056867   PMID:21873635   PMID:22696596   PMID:22808956   PMID:23376485   PMID:26406953   PMID:26460568  
PMID:27599751   PMID:28327460   PMID:28344315   PMID:28919298   PMID:29507755   PMID:29676528   PMID:30021884   PMID:31900314   PMID:32392178  


Genomics

Comparative Map Data
MXRA5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX3,308,565 - 3,346,652 (-)EnsemblGRCh38hg38GRCh38
GRCh38X3,308,565 - 3,346,652 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X3,226,606 - 3,264,693 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X3,236,606 - 3,274,681 (-)NCBINCBI36hg18NCBI36
CeleraX7,506,768 - 7,545,904 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX1,169,098 - 1,208,180 (-)NCBIHuRef
CHM1_1X3,257,299 - 3,295,226 (-)NCBICHM1_1
Mxra5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554991,947,220 - 1,976,861 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554991,947,337 - 1,976,847 (-)NCBIChiLan1.0ChiLan1.0
MXRA5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X3,248,129 - 3,285,917 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX3,248,134 - 3,285,917 (-)Ensemblpanpan1.1panPan2
MXRA5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X1,750,899 - 1,777,719 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX1,752,072 - 1,778,045 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX1,702,212 - 1,728,645 (-)NCBI
ROS_Cfam_1.0X1,675,637 - 1,702,076 (-)NCBI
UMICH_Zoey_3.1X1,667,846 - 1,694,250 (-)NCBI
UNSW_CanFamBas_1.0X1,682,715 - 1,709,299 (-)NCBI
UU_Cfam_GSD_1.0X1,720,080 - 1,746,560 (-)NCBI
Mxra5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049531,849,354 - 1,876,300 (-)NCBI
SpeTri2.0NW_0049366442,502,334 - 2,528,278 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC110257935
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1Y6,511,350 - 6,524,989 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MXRA5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X1,525,422 - 1,563,711 (-)NCBI
Mxra5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248341,502,487 - 1,535,177 (-)NCBI

Position Markers
RH98596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X3,226,734 - 3,226,878UniSTSGRCh37
GRCh37Y14,109,019 - 14,109,162UniSTSGRCh37
Build 36X3,236,734 - 3,236,878RGDNCBI36
CeleraX1,080,941 - 1,081,084RGD
CeleraX7,506,896 - 7,507,040UniSTS
Cytogenetic MapYq11.21UniSTS
Cytogenetic MapXp22.33UniSTS
HuRefX1,169,226 - 1,169,370UniSTS
HuRefY8,758,190 - 8,758,333UniSTS
DXS6779  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X3,252,365 - 3,252,528UniSTSGRCh37
Build 36X3,262,365 - 3,262,528RGDNCBI36
CeleraX7,533,591 - 7,533,754RGD
Cytogenetic MapXp22.33UniSTS
HuRefX1,195,337 - 1,195,500UniSTS
MXRA5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X3,229,370 - 3,229,643UniSTSGRCh37
CeleraX7,509,532 - 7,509,805UniSTS
HuRefX1,171,862 - 1,172,135UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:387
Count of miRNA genes:320
Interacting mature miRNAs:336
Transcripts:ENST00000217939
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.


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 1 1
Medium 379 329 748 77 81 22 903 172 54 128 416 911 65 256 459 1
Low 1913 1663 817 451 466 346 2434 1238 1066 252 638 536 107 1 767 1528 3 2
Below cutoff 55 823 137 81 602 82 969 752 2565 26 369 27 2 181 799 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000217939   ⟹   ENSP00000217939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX3,308,565 - 3,346,652 (-)Ensembl
RefSeq Acc Id: NM_015419   ⟹   NP_056234
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X3,308,565 - 3,346,652 (-)NCBI
GRCh37X3,226,606 - 3,265,133 (-)NCBI
Build 36X3,236,606 - 3,274,681 (-)NCBI Archive
CeleraX7,506,768 - 7,545,904 (-)RGD
HuRefX1,169,098 - 1,208,180 (-)RGD
CHM1_1X3,257,299 - 3,295,226 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056234   ⟸   NM_015419
- Peptide Label: precursor
- UniProtKB: Q9NR99 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000217939   ⟸   ENST00000217939
Protein Domains
Ig-like C2-type   LRRCT   LRRNT


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:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32
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(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33
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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.21(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(chrX:2960878-3567038)x0 copy number loss See cases [RCV000053024] ChrX:2960878..3567038 [GRCh38]
ChrX:2878919..3485079 [GRCh37]
ChrX:2888919..3495079 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_015419.3(MXRA5):c.8381C>T (p.Ser2794Leu) single nucleotide variant Malignant melanoma [RCV000073170] ChrX:3309822 [GRCh38]
ChrX:3227863 [GRCh37]
ChrX:3237863 [NCBI36]
ChrX:Xp22.33
not provided
NM_015419.3(MXRA5):c.8020C>T (p.Pro2674Ser) single nucleotide variant Malignant melanoma [RCV000073171] ChrX:3310183 [GRCh38]
ChrX:3228224 [GRCh37]
ChrX:3238224 [NCBI36]
ChrX:Xp22.33
not provided
NM_015419.3(MXRA5):c.3732C>T (p.Thr1244=) single nucleotide variant Malignant melanoma [RCV000073172] ChrX:3321953 [GRCh38]
ChrX:3239994 [GRCh37]
ChrX:3249994 [NCBI36]
ChrX:Xp22.33
not provided
NM_015419.3(MXRA5):c.3208G>A (p.Gly1070Arg) single nucleotide variant Malignant melanoma [RCV000073173] ChrX:3322477 [GRCh38]
ChrX:3240518 [GRCh37]
ChrX:3250518 [NCBI36]
ChrX:Xp22.33
not provided
NM_015419.3(MXRA5):c.474G>A (p.Leu158=) single nucleotide variant Malignant melanoma [RCV000073174] ChrX:3330253 [GRCh38]
ChrX:3248294 [GRCh37]
ChrX:3258294 [NCBI36]
ChrX:Xp22.33
not provided
NM_015419.3(MXRA5):c.6750G>T (p.Glu2250Asp) single nucleotide variant Malignant melanoma [RCV000063959] ChrX:3311453 [GRCh38]
ChrX:3229494 [GRCh37]
ChrX:3239494 [NCBI36]
ChrX:Xp22.33
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_015419.4(MXRA5):c.5788G>A (p.Ala1930Thr) single nucleotide variant Malignant tumor of prostate [RCV000149230] ChrX:3317893 [GRCh38]
ChrX:3235934 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.32(chrX:2963899-5016927)x3 copy number gain See cases [RCV000133757] ChrX:2963899..5016927 [GRCh38]
ChrX:2881940..4934968 [GRCh37]
ChrX:2891940..4944968 [NCBI36]
ChrX:Xp22.33-22.32
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10679-9459643)x1 copy number loss See cases [RCV000134136] ChrX:10679..9459643 [GRCh38]
ChrX:60679..9427683 [GRCh37]
ChrX:679..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1 copy number loss See cases [RCV000136524] ChrX:10701..8466385 [GRCh38]
ChrX:60701..8434426 [GRCh37]
ChrX:701..8394426 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2751384-3349640)x3 copy number gain See cases [RCV000136535] ChrX:2751384..3349640 [GRCh38]
ChrX:2669425..3267681 [GRCh37]
ChrX:2679425..3277681 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2 copy number gain See cases [RCV000135895] ChrX:2936461..17287323 [GRCh38]
ChrX:2854502..17305446 [GRCh37]
ChrX:2864502..17215367 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3 copy number gain See cases [RCV000136091] ChrX:10701..8129470 [GRCh38]
ChrX:60701..8097511 [GRCh37]
ChrX:701..8057511 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
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 Xp22.33-22.31(chrX:2765636-6317066)x1 copy number loss See cases [RCV000136749] ChrX:2765636..6317066 [GRCh38]
ChrX:2683677..6235107 [GRCh37]
ChrX:2693677..6245107 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782275-3355873)x2 copy number gain See cases [RCV000137519] ChrX:2782275..3355873 [GRCh38]
ChrX:2700316..3273914 [GRCh37]
ChrX:2710316..3283914 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33(chrX:3026061-3570788)x2 copy number gain See cases [RCV000139339] ChrX:3026061..3570788 [GRCh38]
ChrX:2944102..3488829 [GRCh37]
ChrX:2954102..3498829 [NCBI36]
ChrX:Xp22.33
uncertain significance
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(chrX:1718254-3700497)x0 copy number loss See cases [RCV000138953] ChrX:1718254..3700497 [GRCh38]
ChrX:1837147..3618538 [GRCh37]
ChrX:1797147..3628538 [NCBI36]
ChrX:Xp22.33
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2790845-6495923)x0 copy number loss See cases [RCV000142746] ChrX:2790845..6495923 [GRCh38]
ChrX:2708886..6413964 [GRCh37]
ChrX:2718886..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:71267-3248235)x1 copy number loss See cases [RCV000240278] ChrX:71267..3248235 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2233394-3553923)x1 copy number loss See cases [RCV000448895] ChrX:2233394..3553923 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
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 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
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:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33(chrX:168547-3880686)x0 copy number loss See cases [RCV000511695] ChrX:168547..3880686 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0 copy number loss See cases [RCV000511728] ChrX:168546..3259868 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7721374)x1 copy number loss See cases [RCV000511828] ChrX:168546..7721374 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.33-22.32(chrX:168546-5896155)x1 copy number loss See cases [RCV000510877] ChrX:168546..5896155 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:2879716-3369793)x2 copy number gain See cases [RCV000512199] ChrX:2879716..3369793 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1 copy number loss not provided [RCV000684235] ChrX:2703822..4472534 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_015419.4(MXRA5):c.3691C>T (p.Arg1231Trp) single nucleotide variant Short stature [RCV000736239] ChrX:3321994 [GRCh38]
ChrX:3240035 [GRCh37]
ChrX:Xp22.33
uncertain significance
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met) single nucleotide variant Short stature [RCV000736238] ChrX:3323902 [GRCh38]
ChrX:3241943 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
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
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1 copy number loss not provided [RCV001007201] ChrX:168546..6449753 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0 copy number loss See cases [RCV001007410] ChrX:60814..6043278 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_015419.4(MXRA5):c.5592C>T (p.Ser1864=) single nucleotide variant not provided [RCV000884919] ChrX:3320093 [GRCh38]
ChrX:3238134 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.918C>T (p.Leu306=) single nucleotide variant not provided [RCV000884920] ChrX:3324767 [GRCh38]
ChrX:3242808 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.1638G>A (p.Glu546=) single nucleotide variant not provided [RCV000951164] ChrX:3324047 [GRCh38]
ChrX:3242088 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.6251G>C (p.Gly2084Ala) single nucleotide variant not provided [RCV000905160] ChrX:3317430 [GRCh38]
ChrX:3235471 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.7591C>G (p.Leu2531Val) single nucleotide variant not provided [RCV000948145] ChrX:3310612 [GRCh38]
ChrX:3228653 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.6468G>C (p.Thr2156=) single nucleotide variant not provided [RCV000948146] ChrX:3317213 [GRCh38]
ChrX:3235254 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.6579-5T>C single nucleotide variant not provided [RCV000906503] ChrX:3311629 [GRCh38]
ChrX:3229670 [GRCh37]
ChrX:Xp22.33
likely benign
NM_015419.4(MXRA5):c.1387A>G (p.Ile463Val) single nucleotide variant not provided [RCV000900072] ChrX:3324298 [GRCh38]
ChrX:3242339 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.2480C>G (p.Pro827Arg) single nucleotide variant not provided [RCV000960325] ChrX:3323205 [GRCh38]
ChrX:3241246 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
NM_015419.4(MXRA5):c.5611A>G (p.Thr1871Ala) single nucleotide variant not provided [RCV000888477] ChrX:3320074 [GRCh38]
ChrX:3238115 [GRCh37]
ChrX:Xp22.33
likely benign
NM_015419.4(MXRA5):c.941C>A (p.Pro314His) single nucleotide variant not provided [RCV000881169] ChrX:3324744 [GRCh38]
ChrX:3242785 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_015419.4(MXRA5):c.7278G>C (p.Glu2426Asp) single nucleotide variant not provided [RCV000950299] ChrX:3310925 [GRCh38]
ChrX:3228966 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.7065G>A (p.Ala2355=) single nucleotide variant not provided [RCV000888123] ChrX:3311138 [GRCh38]
ChrX:3229179 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.4390C>T (p.His1464Tyr) single nucleotide variant not provided [RCV000961240] ChrX:3321295 [GRCh38]
ChrX:3239336 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0 copy number loss not provided [RCV001007203] ChrX:168546..5723788 [GRCh37]
ChrX:Xp22.33-22.32
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 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_015419.4(MXRA5):c.7866T>A (p.Ala2622=) single nucleotide variant not provided [RCV000965515] ChrX:3310337 [GRCh38]
ChrX:3228378 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.3488G>A (p.Arg1163His) single nucleotide variant not provided [RCV000891912] ChrX:3322197 [GRCh38]
ChrX:3240238 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.7986_8003delinsTGCAGCTGGGCAGGGACA (p.Gly2663_Arg2668delinsAlaAlaGlyGlnGlyHis) indel not provided [RCV000845016] ChrX:3310200..3310217 [GRCh38]
ChrX:3228241..3228258 [GRCh37]
ChrX:Xp22.33
not provided
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333441)x0 copy number loss not provided [RCV000849103] ChrX:3185613..6333441 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0 copy number loss not provided [RCV001007199] ChrX:168546..3265521 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_015419.4(MXRA5):c.6150C>A (p.His2050Gln) single nucleotide variant not provided [RCV000905027] ChrX:3317531 [GRCh38]
ChrX:3235572 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.3898A>G (p.Arg1300Gly) single nucleotide variant not provided [RCV000955229] ChrX:3321787 [GRCh38]
ChrX:3239828 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
NM_015419.4(MXRA5):c.7813G>A (p.Gly2605Ser) single nucleotide variant not provided [RCV000958305] ChrX:3310390 [GRCh38]
ChrX:3228431 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.6141C>T (p.Pro2047=) single nucleotide variant not provided [RCV000958306] ChrX:3317540 [GRCh38]
ChrX:3235581 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.6099G>A (p.Ala2033=) single nucleotide variant not provided [RCV000958307] ChrX:3317582 [GRCh38]
ChrX:3235623 [GRCh37]
ChrX:Xp22.33
benign
NM_015419.4(MXRA5):c.5334C>T (p.Phe1778=) single nucleotide variant not provided [RCV000889942] ChrX:3320351 [GRCh38]
ChrX:3238392 [GRCh37]
ChrX:Xp22.33
likely benign
NM_015419.4(MXRA5):c.4075G>T (p.Val1359Phe) single nucleotide variant not provided [RCV000999310] ChrX:3321610 [GRCh38]
ChrX:3239651 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:3185613-6333434)x1 copy number loss not provided [RCV001258998] ChrX:3185613..6333434 [GRCh37]
ChrX:Xp22.33-22.31
likely pathogenic
GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2 copy number gain not provided [RCV001258829] ChrX:2571744..3605934 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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 Xp22.33-22.32(chrX:60000-4857212)x1 copy number loss not provided [RCV001270673] ChrX:60000..4857212 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7539 AgrOrtholog
COSMIC MXRA5 COSMIC
Ensembl Genes ENSG00000101825 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000217939 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217939 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000101825 GTEx
HGNC ID HGNC:7539 ENTREZGENE
Human Proteome Map MXRA5 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
KEGG Report hsa:25878 UniProtKB/Swiss-Prot
NCBI Gene 25878 ENTREZGENE
OMIM 300938 OMIM
Pfam I-set UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA31340 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot
SMART IGc2 UniProtKB/Swiss-Prot
  LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
UniProt L8ECG1_HUMAN UniProtKB/TrEMBL
  MXRA5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q6P1M7 UniProtKB/Swiss-Prot
  Q9Y3Y8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 MXRA5  matrix remodeling associated 5    matrix-remodelling associated 5  Symbol and/or name change 5135510 APPROVED