BGN (biglycan) - Rat Genome Database

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Gene: BGN (biglycan) Homo sapiens
Analyze
Symbol: BGN
Name: biglycan
RGD ID: 737524
HGNC Page HGNC
Description: Predicted to be an extracellular matrix structural constituent conferring compression resistance. Predicted to be involved in extracellular matrix organization and proteoglycan metabolic process. Localizes to cell surface and transport vesicle. Implicated in Meester-Loeys syndrome and X-linked spondyloepimetaphyseal dysplasia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: biglycan proteoglycan; bone/cartilage proteoglycan I; bone/cartilage proteoglycan-I; dermatan sulphate proteoglycan I; DSPG1; MRLS; PG-S1; PGI; SEMDX; SLRR1A; small leucine-rich protein 1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,494,980 - 153,509,546 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,494,980 - 153,509,546 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,760,438 - 152,775,004 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,413,605 - 152,428,198 (+)NCBINCBI36hg18NCBI36
Build 34X152,281,257 - 152,295,851NCBI
CeleraX152,994,048 - 153,008,701 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,428,414 - 141,433,357 (+)NCBIHuRef
CHM1_1X152,634,856 - 152,649,519 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chromium atom  (EXP)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP,ISO)
curcumin  (ISO)
DDT  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazepam  (EXP)
diazinon  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ethanol  (EXP)
flutamide  (ISO)
folpet  (ISO)
furan  (ISO)
isotretinoin  (EXP)
methapyrilene  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
okadaic acid  (ISO)
oxaliplatin  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal sternum morphology  (IAGP)
Anterior wedging of T11  (IAGP)
Anterior wedging of T12  (IAGP)
Aortic dissection  (IAGP)
Bifid uvula  (IAGP)
Brachydactyly  (IAGP)
Broad long bone diaphyses  (IAGP)
Broad metacarpals  (IAGP)
Broad phalanx  (IAGP)
Camptodactyly  (IAGP)
Cervical spine instability  (IAGP)
Cone-shaped distal radial epiphysis  (IAGP)
Cone-shaped epiphyses fused within their metaphyses  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped metacarpal epiphyses  (IAGP)
Coxa valga  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Flared iliac wings  (IAGP)
Flat acetabular roof  (IAGP)
Frontal bossing  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Limited elbow extension  (IAGP)
Long fibula  (IAGP)
Long ulna  (IAGP)
Lumbar hyperlordosis  (IAGP)
Malar flattening  (IAGP)
Metaphyseal irregularity  (IAGP)
Mitral regurgitation  (IAGP)
Narrow pelvis bone  (IAGP)
Pectus carinatum  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Posterior rib cupping  (IAGP)
Prominent styloid process of ulna  (IAGP)
Proptosis  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Radial deviation of the hand  (IAGP)
Relative macrocephaly  (IAGP)
Schizophrenia  (IAGP)
Short clavicles  (IAGP)
Short foot  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Ventriculomegaly  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1612609   PMID:1860845   PMID:1968422   PMID:2059554   PMID:2212616   PMID:2590169   PMID:2647739   PMID:3597437   PMID:7607653   PMID:7793988   PMID:7852349   PMID:7881444  
PMID:8093006   PMID:8093671   PMID:8125298   PMID:8178833   PMID:8440685   PMID:9731537   PMID:9848887   PMID:9880804   PMID:10383378   PMID:10684260   PMID:10854409   PMID:11076863  
PMID:11145944   PMID:11256614   PMID:11259413   PMID:11598131   PMID:11709279   PMID:11723132   PMID:11979972   PMID:12070165   PMID:12140283   PMID:12153565   PMID:12354766   PMID:12387878  
PMID:12477932   PMID:12538652   PMID:14702039   PMID:15031262   PMID:15173106   PMID:15372625   PMID:15489334   PMID:15489336   PMID:15546867   PMID:15775969   PMID:16051607   PMID:16344560  
PMID:16381901   PMID:16434404   PMID:16807372   PMID:16883602   PMID:16938379   PMID:16989735   PMID:17097211   PMID:17120779   PMID:17269742   PMID:17516017   PMID:18029348   PMID:18602826  
PMID:18620607   PMID:18621549   PMID:18694824   PMID:18701807   PMID:18988796   PMID:19056867   PMID:19379665   PMID:19422643   PMID:19453261   PMID:19502413   PMID:19523462   PMID:19580379  
PMID:20301299   PMID:20367117   PMID:20382708   PMID:20551380   PMID:20591478   PMID:21029365   PMID:21185747   PMID:21397694   PMID:21702857   PMID:21873635   PMID:21879307   PMID:21913799  
PMID:21969569   PMID:21998129   PMID:22095710   PMID:22261194   PMID:22329809   PMID:22374465   PMID:22479366   PMID:22582394   PMID:22982459   PMID:23007878   PMID:23376485   PMID:23393390  
PMID:23533145   PMID:24051360   PMID:24117774   PMID:24228112   PMID:24257755   PMID:24373744   PMID:24552666   PMID:25037231   PMID:25173489   PMID:25260943   PMID:25463076   PMID:25578324  
PMID:26275380   PMID:26459740   PMID:26465331   PMID:27068509   PMID:27236923   PMID:27295191   PMID:27465988   PMID:27485975   PMID:27559042   PMID:27632686   PMID:27849015   PMID:28131044  
PMID:28327460   PMID:28408374   PMID:28459201   PMID:28476030   PMID:28675934   PMID:28927971   PMID:29253517   PMID:29761248   PMID:29872149   PMID:29921372   PMID:30385593   PMID:30431382  
PMID:31478096   PMID:31483776   PMID:31989342   PMID:32050430   PMID:32061523   PMID:32436194   PMID:32623936   PMID:32814053  


Genomics

Comparative Map Data
BGN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX153,494,980 - 153,509,546 (+)EnsemblGRCh38hg38GRCh38
GRCh38X153,494,980 - 153,509,546 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,760,438 - 152,775,004 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,413,605 - 152,428,198 (+)NCBINCBI36hg18NCBI36
Build 34X152,281,257 - 152,295,851NCBI
CeleraX152,994,048 - 153,008,701 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,428,414 - 141,433,357 (+)NCBIHuRef
CHM1_1X152,634,856 - 152,649,519 (+)NCBICHM1_1
Bgn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X72,527,207 - 72,539,542 (+)NCBIGRCm39mm39
GRCm39 EnsemblX72,527,208 - 72,539,539 (+)Ensembl
GRCm38X73,483,601 - 73,495,936 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX73,483,602 - 73,495,933 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X70,728,974 - 70,741,275 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X69,736,364 - 69,748,651 (+)NCBImm8
CeleraX64,737,508 - 64,749,795 (+)NCBICelera
Cytogenetic MapXA7.3NCBI
cM MapX37.33NCBI
Bgn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X151,197,296 - 151,209,458 (+)NCBI
Rnor_6.0 EnsemblX157,319,046 - 157,331,204 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X157,319,042 - 157,331,204 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01153,067,990 - 153,080,152 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X159,380,557 - 159,393,409 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X159,453,989 - 159,466,841 (+)NCBI
Celera1136,680,181 - 136,692,331 (-)NCBICelera
Cytogenetic MapXq37NCBI
Bgn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955580252,139 - 263,663 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955580252,183 - 263,179 (+)NCBIChiLan1.0ChiLan1.0
BGN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X152,931,608 - 152,946,292 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX152,931,608 - 152,946,292 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X143,045,298 - 143,059,892 (+)NCBIMhudiblu_PPA_v0panPan3
BGN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X121,330,371 - 121,334,634 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX121,330,259 - 121,334,634 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX106,652,078 - 106,665,354 (+)NCBI
ROS_Cfam_1.0X124,463,956 - 124,477,899 (+)NCBI
UMICH_Zoey_3.1X120,233,690 - 120,246,965 (+)NCBI
UNSW_CanFamBas_1.0X122,748,802 - 122,762,079 (+)NCBI
UU_Cfam_GSD_1.0X122,510,823 - 122,524,101 (+)NCBI
Bgn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X118,637,802 - 118,651,947 (+)NCBI
SpeTri2.0NW_004936809375,589 - 389,718 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BGN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX124,282,224 - 124,295,448 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X124,282,048 - 124,295,450 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X141,845,604 - 141,858,856 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BGN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X127,926,018 - 127,940,485 (+)NCBI
ChlSab1.1 EnsemblX127,926,009 - 127,941,164 (+)Ensembl
Bgn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624946230,529 - 241,448 (+)NCBI

Position Markers
RH75559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,774,776 - 152,774,984UniSTSGRCh37
Build 36X152,427,970 - 152,428,178RGDNCBI36
CeleraX153,008,473 - 153,008,681RGD
Cytogenetic MapXq28UniSTS
HuRefX141,433,129 - 141,433,337UniSTS
GDB:192507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,773,886 - 152,773,965UniSTSGRCh37
Build 36X152,427,080 - 152,427,159RGDNCBI36
CeleraX153,007,585 - 153,007,664RGD
Cytogenetic MapXq28UniSTS
HuRefX141,432,239 - 141,432,318UniSTS
G62027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,774,676 - 152,774,800UniSTSGRCh37
Build 36X152,427,870 - 152,427,994RGDNCBI36
CeleraX153,008,373 - 153,008,497RGD
Cytogenetic MapXq28UniSTS
HuRefX141,433,029 - 141,433,153UniSTS
DXS9901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,774,448 - 152,774,659UniSTSGRCh37
Build 36X152,427,642 - 152,427,853RGDNCBI36
CeleraX153,008,147 - 153,008,356RGD
Cytogenetic MapXq28UniSTS
HuRefX141,432,801 - 141,433,012UniSTS
G28556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,773,954 - 152,774,164UniSTSGRCh37
Build 36X152,427,148 - 152,427,358RGDNCBI36
CeleraX153,007,653 - 153,007,863RGD
Cytogenetic MapXq28UniSTS
HuRefX141,432,307 - 141,432,517UniSTS
STS-M65154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X152,773,938 - 152,774,129UniSTSGRCh37
Build 36X152,427,132 - 152,427,323RGDNCBI36
CeleraX153,007,637 - 153,007,828RGD
Cytogenetic MapXq28UniSTS
HuRefX141,432,291 - 141,432,482UniSTS
GeneMap99-GB4 RH MapX356.19UniSTS
RH91107  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX350.52UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3476
Count of miRNA genes:976
Interacting mature miRNAs:1150
Transcripts:ENST00000331595, ENST00000431891, ENST00000472615, ENST00000480756, ENST00000492658
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 12 1418 69 10 37 11 682 14 14 51 64 302 19 659
Medium 2292 852 1628 598 549 435 3304 1939 3551 331 1304 1118 164 1185 1917 3
Low 35 598 12 9 624 10 337 235 141 13 47 78 8 1 212 2 1
Below cutoff 48 114 11 5 187 8 24 5 18 15 18 69 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI538325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI570205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU142113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX148653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ180984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC299956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC419932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC425011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ173642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U11686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331595   ⟹   ENSP00000327336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,494,980 - 153,509,546 (+)Ensembl
RefSeq Acc Id: ENST00000431891   ⟹   ENSP00000402525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,494,993 - 153,506,626 (+)Ensembl
RefSeq Acc Id: ENST00000472615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,494,981 - 153,509,546 (+)Ensembl
RefSeq Acc Id: ENST00000480756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,494,983 - 153,509,546 (+)Ensembl
RefSeq Acc Id: ENST00000492658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX153,505,869 - 153,508,805 (+)Ensembl
RefSeq Acc Id: NM_001711   ⟹   NP_001702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,494,980 - 153,509,546 (+)NCBI
GRCh37X152,760,347 - 152,775,004 (+)ENTREZGENE
Build 36X152,413,605 - 152,428,198 (+)NCBI Archive
HuRefX141,428,414 - 141,433,357 (+)ENTREZGENE
CHM1_1X152,634,856 - 152,649,519 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029724   ⟹   XP_016885213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,504,617 - 153,509,538 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001702   ⟸   NM_001711
- Peptide Label: preproprotein
- UniProtKB: P21810 (UniProtKB/Swiss-Prot),   B4DNL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016885213   ⟸   XM_017029724
- Peptide Label: isoform X1
- UniProtKB: P21810 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000327336   ⟸   ENST00000331595
RefSeq Acc Id: ENSP00000402525   ⟸   ENST00000431891
Protein Domains
LRRNT

Promoters
RGD ID:6851768
Promoter ID:EP73681
Type:initiation region
Name:HS_BGN
Description:Biglycan.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X152,413,632 - 152,413,692EPD
RGD ID:13628500
Promoter ID:EPDNEW_H29487
Type:initiation region
Name:BGN_1
Description:biglycan
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X153,494,980 - 153,495,040EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153504314-154144797)x2 copy number gain See cases [RCV000052492] ChrX:153504314..154144797 [GRCh38]
ChrX:152422966..153063464 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2 copy number gain See cases [RCV000052474] ChrX:140445228..154604471 [GRCh38]
ChrX:139527393..153832724 [GRCh37]
ChrX:139355059..153485918 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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
NM_001711.6(BGN):c.908A>C (p.Gln303Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000256212]|Meester-loeys syndrome [RCV000412532] ChrX:153507184 [GRCh38]
ChrX:152772642 [GRCh37]
ChrX:Xq28
pathogenic
NM_001711.6(BGN):c.238G>A (p.Gly80Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000256213]|Meester-loeys syndrome [RCV000412486] ChrX:153504869 [GRCh38]
ChrX:152770327 [GRCh37]
ChrX:Xq28
pathogenic
BGN, 21-KB DEL (SCV000266570) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000256220]|Meester-loeys syndrome [RCV000412612] ChrX:153501969..153522529 [GRCh38]
ChrX:152767424..152787984 [GRCh37]
ChrX:Xq28
pathogenic
NM_001711.6(BGN):c.5G>A (p.Trp2Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000256226]|Meester-loeys syndrome [RCV000412663] ChrX:153504636 [GRCh38]
ChrX:152770094 [GRCh37]
ChrX:Xq28
pathogenic
Single allele deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000256227] ChrX:153502980..153530518 [GRCh38]
ChrX:152768438..152795976 [GRCh37]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-154604471)x2 copy number gain See cases [RCV000135451] ChrX:153296806..154604471 [GRCh38]
ChrX:152568327..153832724 [GRCh37]
ChrX:152215458..153485918 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2 copy number gain See cases [RCV000140532] ChrX:153451351..154230630 [GRCh38]
ChrX:152716809..153496099 [GRCh37]
ChrX:152370003..153149293 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:153392250-153934599)x3 copy number gain See cases [RCV000142157] ChrX:153392250..153934599 [GRCh38]
ChrX:152657708..153200052 [GRCh37]
ChrX:152310902..152853246 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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
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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001711.6(BGN):c.776G>T (p.Gly259Val) single nucleotide variant X-linked spondyloepimetaphyseal dysplasia [RCV000235501] ChrX:153507052 [GRCh38]
ChrX:152772510 [GRCh37]
ChrX:Xq28
pathogenic
NM_001711.6(BGN):c.439A>G (p.Lys147Glu) single nucleotide variant X-linked spondyloepimetaphyseal dysplasia [RCV000236799] ChrX:153505950 [GRCh38]
ChrX:152771408 [GRCh37]
ChrX:Xq28
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3 copy number gain See cases [RCV000511269] ChrX:152559822..153104847 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [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
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152398094-153176959)x2 copy number gain not provided [RCV000684736] ChrX:152398094..153176959 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152582473-152796293)x2 copy number gain not provided [RCV000684737] ChrX:152582473..152796293 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2 copy number gain not provided [RCV000684738] ChrX:152628304..153594168 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:152770714-152865451)x2 copy number gain not provided [RCV000753921] ChrX:152770714..152865451 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_001711.6(BGN):c.310G>A (p.Glu104Lys) single nucleotide variant not provided [RCV000961850] ChrX:153505309 [GRCh38]
ChrX:152770767 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.987G>C (p.Arg329=) single nucleotide variant not provided [RCV000901864] ChrX:153508325 [GRCh38]
ChrX:152773783 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.1023C>G (p.Pro341=) single nucleotide variant not provided [RCV000926413] ChrX:153508361 [GRCh38]
ChrX:152773819 [GRCh37]
ChrX:Xq28
likely benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
pathogenic
NM_001711.6(BGN):c.126G>A (p.Ser42=) single nucleotide variant not provided [RCV000923641] ChrX:153504757 [GRCh38]
ChrX:152770215 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.357C>T (p.Leu119=) single nucleotide variant not provided [RCV000886273] ChrX:153505868 [GRCh38]
ChrX:152771326 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001711.6(BGN):c.59_60insAA (p.Gln21fs) insertion not provided [RCV000788609] ChrX:153504689..153504690 [GRCh38]
ChrX:152770147..152770148 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152405258-152942804)x3 copy number gain not provided [RCV000848589] ChrX:152405258..152942804 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152765599-152970126)x3 copy number gain not provided [RCV000848856] ChrX:152765599..152970126 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_001711.6(BGN):c.278C>G (p.Thr93Arg) single nucleotide variant not provided [RCV000788526] ChrX:153505277 [GRCh38]
ChrX:152770735 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2 copy number gain not provided [RCV000848454] ChrX:152398094..153086545 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516296-152765599)x3 copy number gain not provided [RCV000849560] ChrX:152516296..152765599 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_001711.6(BGN):c.771-9C>T single nucleotide variant not provided [RCV000886507] ChrX:153507038 [GRCh38]
ChrX:152772496 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.111C>T (p.Asn37=) single nucleotide variant not provided [RCV000954536] ChrX:153504742 [GRCh38]
ChrX:152770200 [GRCh37]
ChrX:Xq28
benign
NM_001711.6(BGN):c.120A>G (p.Glu40=) single nucleotide variant not provided [RCV000888886] ChrX:153504751 [GRCh38]
ChrX:152770209 [GRCh37]
ChrX:Xq28
benign
NM_001711.6(BGN):c.222T>C (p.Val74=) single nucleotide variant not provided [RCV000913231] ChrX:153504853 [GRCh38]
ChrX:152770311 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.573C>T (p.Gly191=) single nucleotide variant not provided [RCV000890724] ChrX:153506536 [GRCh38]
ChrX:152771994 [GRCh37]
ChrX:Xq28
benign
NM_001711.6(BGN):c.41del (p.Ser14fs) deletion not provided [RCV001008451] ChrX:153504672 [GRCh38]
ChrX:152770130 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152582473-152796896)x2 copy number gain not provided [RCV001007366] ChrX:152582473..152796896 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2 copy number gain not provided [RCV001007365] ChrX:152516781..153368573 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq28(chrX:152649825-152988014) copy number gain Rett syndrome [RCV001291983] ChrX:152649825..152988014 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3 copy number gain not provided [RCV001260062] ChrX:152631130..153240286 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:152516781-152770756)x2 copy number gain not provided [RCV001260065] ChrX:152516781..152770756 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.909+15T>G single nucleotide variant none provided [RCV001285101] ChrX:153507200 [GRCh38]
ChrX:152772658 [GRCh37]
ChrX:Xq28
likely benign
NM_001711.6(BGN):c.17G>A (p.Arg6His) single nucleotide variant X-linked spondyloepimetaphyseal dysplasia [RCV001335855] ChrX:153504648 [GRCh38]
ChrX:152770106 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_001711.6(BGN):c.1000G>A (p.Gly334Ser) single nucleotide variant not provided [RCV001311411] ChrX:153508338 [GRCh38]
ChrX:152773796 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.68G>C (p.Gly23Ala) single nucleotide variant not provided [RCV001312595] ChrX:153504699 [GRCh38]
ChrX:152770157 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.593G>T (p.Ser198Ile) single nucleotide variant not provided [RCV001314620] ChrX:153506556 [GRCh38]
ChrX:152772014 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.232G>A (p.Asp78Asn) single nucleotide variant not provided [RCV001342281] ChrX:153504863 [GRCh38]
ChrX:152770321 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.645C>G (p.Ile215Met) single nucleotide variant X-linked spondyloepimetaphyseal dysplasia [RCV001330829] ChrX:153506608 [GRCh38]
ChrX:152772066 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.682C>T (p.Pro228Ser) single nucleotide variant X-linked spondyloepimetaphyseal dysplasia [RCV001335856] ChrX:153506835 [GRCh38]
ChrX:152772293 [GRCh37]
ChrX:Xq28
uncertain significance
NM_001711.6(BGN):c.997A>G (p.Asn333Asp) single nucleotide variant Meester-loeys syndrome [RCV001335857] ChrX:153508335 [GRCh38]
ChrX:152773793 [GRCh37]
ChrX:Xq28
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1044 AgrOrtholog
COSMIC BGN COSMIC
Ensembl Genes ENSG00000182492 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000327336 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402525 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431891 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000182492 GTEx
HGNC ID HGNC:1044 ENTREZGENE
Human Proteome Map BGN Human Proteome Map
InterPro Biglycan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLRP_I_decor/aspor/byglycan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:633 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 633 ENTREZGENE
OMIM 300106 OMIM
  300989 OMIM
  301870 OMIM
PANTHER PTHR45712:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25346 PharmGKB
PIRSF SLRP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DNL4 ENTREZGENE, UniProtKB/TrEMBL
  C9JKG1_HUMAN UniProtKB/TrEMBL
  P21810 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DWU3 UniProtKB/Swiss-Prot
  P13247 UniProtKB/Swiss-Prot