SERPINA7 (serpin family A member 7) - Rat Genome Database

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Gene: SERPINA7 (serpin family A member 7) Homo sapiens
Analyze
Symbol: SERPINA7
Name: serpin family A member 7
RGD ID: 1351148
HGNC Page HGNC
Description: Predicted to have serine-type endopeptidase inhibitor activity. Involved in thyroid hormone transport. Localizes to extracellular exosome. Biomarker of diabetes mellitus; diabetic ketoacidosis; hyperthyroidism; and type 1 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ17820; mutant serpin family A member 7; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7; serpin A7; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7; T4-binding globulin; TBG; TBGQTL; thyroxin-binding globulin; thyroxine-binding globulin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SERPINA7P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX106,032,435 - 106,038,727 (-)EnsemblGRCh38hg38GRCh38
GRCh38X106,032,435 - 106,038,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X105,276,426 - 105,282,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X105,163,853 - 105,167,722 (-)NCBINCBI36hg18NCBI36
Build 34X105,083,341 - 105,087,530NCBI
CeleraX105,751,759 - 105,757,289 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX94,904,096 - 94,909,653 (-)NCBIHuRef
CHM1_1X105,188,486 - 105,194,014 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropropane  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
1H-pyrazole  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4',5,6'-Hexabromodiphenyl ether  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',4,5-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,4,3',4'-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (EXP)
3,5-dichlorobiphenyl  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-acetylaminofluorene  (ISO)
4-nitro-1,2-phenylenediamine  (ISO)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
andrographolide  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
Aroclor 1254  (ISO)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (EXP)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethyl hydrogen phosphate  (ISO)
diiodine  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
erythromycin estolate  (ISO)
ethanol  (ISO)
flutamide  (ISO)
furan  (ISO)
hexachlorobenzene  (EXP)
isoprenaline  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
norgestimate  (EXP)
orphenadrine  (ISO)
oxycodone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (EXP)
pentachlorophenol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
streptozocin  (ISO)
succimer  (ISO)
tamoxifen  (EXP,ISO)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (ISO)
thyroxine  (EXP)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Additional References at PubMed
PMID:414747   PMID:1294376   PMID:1515456   PMID:1901689   PMID:1903654   PMID:1906047   PMID:1906892   PMID:1943753   PMID:2115061   PMID:2155256   PMID:2495303   PMID:2501669  
PMID:2969453   PMID:3094014   PMID:7499319   PMID:7557975   PMID:7951486   PMID:8232304   PMID:8268226   PMID:8530630   PMID:9510125   PMID:9768672   PMID:11061524   PMID:11147833  
PMID:11600582   PMID:11889160   PMID:11916615   PMID:11931635   PMID:12477932   PMID:12871948   PMID:14718574   PMID:15489334   PMID:15772651   PMID:16335952   PMID:17887925   PMID:19056867  
PMID:19415532   PMID:20429632   PMID:21325280   PMID:21873635   PMID:22820390   PMID:23376485   PMID:23458682   PMID:23533145   PMID:23750785   PMID:24172014   PMID:25361180   PMID:26186194  
PMID:26972000   PMID:28514442   PMID:28579773   PMID:28785540   PMID:29733970   PMID:32249768  


Genomics

Comparative Map Data
SERPINA7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX106,032,435 - 106,038,727 (-)EnsemblGRCh38hg38GRCh38
GRCh38X106,032,435 - 106,038,727 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X105,276,426 - 105,282,718 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X105,163,853 - 105,167,722 (-)NCBINCBI36hg18NCBI36
Build 34X105,083,341 - 105,087,530NCBI
CeleraX105,751,759 - 105,757,289 (-)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX94,904,096 - 94,909,653 (-)NCBIHuRef
CHM1_1X105,188,486 - 105,194,014 (-)NCBICHM1_1
Serpina7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X137,979,998 - 137,985,985 (-)NCBIGRCm39mm39
GRCm39 EnsemblX137,980,006 - 137,985,985 (-)Ensembl
GRCm38X139,079,249 - 139,085,236 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX139,079,257 - 139,085,236 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X135,613,788 - 135,619,775 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X134,426,520 - 134,430,065 (-)NCBImm8
CeleraX122,347,375 - 122,353,362 (-)NCBICelera
Cytogenetic MapXF1NCBI
Serpina7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X102,663,242 - 102,722,319 (-)NCBI
Rnor_6.0 EnsemblX110,226,572 - 110,232,179 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X110,226,565 - 110,232,202 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X110,265,668 - 110,271,283 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X126,739,203 - 126,744,763 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X126,812,635 - 126,816,664 (-)NCBI
CeleraX103,432,378 - 103,438,227 (-)NCBICelera
Cytogenetic MapXq32NCBI
Serpina7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555482,855,111 - 2,861,952 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555482,855,377 - 2,861,946 (-)NCBIChiLan1.0ChiLan1.0
SERPINA7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X105,542,386 - 105,547,774 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX105,541,475 - 105,548,132 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X95,163,842 - 95,169,230 (-)NCBIMhudiblu_PPA_v0panPan3
SERPINA7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X79,571,169 - 79,589,199 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX79,571,169 - 79,576,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX65,715,739 - 65,719,634 (-)NCBI
ROS_Cfam_1.0X81,203,615 - 81,207,510 (-)NCBI
UMICH_Zoey_3.1X78,685,978 - 78,689,873 (-)NCBI
UNSW_CanFamBas_1.0X80,374,716 - 80,378,611 (-)NCBI
UU_Cfam_GSD_1.0X80,165,549 - 80,169,444 (-)NCBI
Serpina7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X79,084,151 - 79,089,667 (-)NCBI
SpeTri2.0NW_0049364998,568,309 - 8,573,764 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINA7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX86,708,632 - 86,714,330 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X86,708,624 - 86,714,324 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X101,067,043 - 101,072,645 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINA7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X93,895,103 - 93,899,718 (-)NCBI
ChlSab1.1 EnsemblX93,894,788 - 93,898,738 (-)Ensembl
Vero_WHO_p1.0NW_02366606518,924,778 - 18,930,070 (-)NCBI
Serpina7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480310,622,181 - 10,627,652 (+)NCBI

Position Markers
STS-M14091  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,277,489 - 105,277,630UniSTSGRCh37
Build 36X105,164,145 - 105,164,286RGDNCBI36
CeleraX105,752,058 - 105,752,199RGD
Cytogenetic MapXq22.2UniSTS
HuRefX94,904,395 - 94,904,536UniSTS
GeneMap99-GB4 RH MapX280.6UniSTS
NCBI RH MapX542.9UniSTS
GDB:192500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,281,244 - 105,281,341UniSTSGRCh37
Build 36X105,167,900 - 105,167,997RGDNCBI36
CeleraX105,755,815 - 105,755,912RGD
Cytogenetic MapXq22.2UniSTS
HuRefX94,908,179 - 94,908,276UniSTS
MARC_8259-8260:996688468:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,278,338 - 105,279,136UniSTSGRCh37
Build 36X105,164,994 - 105,165,792RGDNCBI36
CeleraX105,752,908 - 105,753,707RGD
HuRefX94,905,273 - 94,906,071UniSTS
SERPINA7_2610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,277,024 - 105,277,769UniSTSGRCh37
Build 36X105,163,680 - 105,164,425RGDNCBI36
CeleraX105,751,593 - 105,752,338RGD
HuRefX94,903,930 - 94,904,675UniSTS
A007H29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,277,514 - 105,277,613UniSTSGRCh37
Build 36X105,164,170 - 105,164,269RGDNCBI36
CeleraX105,752,083 - 105,752,182RGD
Cytogenetic MapXq22.2UniSTS
HuRefX94,904,420 - 94,904,519UniSTS
GeneMap99-GB4 RH MapX280.6UniSTS
NCBI RH MapX543.3UniSTS
DXS9706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,277,324 - 105,277,414UniSTSGRCh37
Build 36X105,163,980 - 105,164,070RGDNCBI36
CeleraX105,751,893 - 105,751,983RGD
Cytogenetic MapXq22.2UniSTS
HuRefX94,904,230 - 94,904,320UniSTS
SERPINA7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X105,280,669 - 105,280,898UniSTSGRCh37
CeleraX105,755,240 - 105,755,469UniSTS
HuRefX94,907,604 - 94,907,833UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:400
Count of miRNA genes:248
Interacting mature miRNAs:257
Transcripts:ENST00000327674, ENST00000372563, ENST00000487487
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High 4 4 4
Medium 3 1 415 415 1 415 1
Low 78 29 17 16 59 16 8 1 3 62 17 2 5 2
Below cutoff 603 526 237 31 414 10 425 289 526 179 665 196 21 128 313

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000327674   ⟹   ENSP00000329374
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX106,032,442 - 106,037,394 (-)Ensembl
RefSeq Acc Id: ENST00000372563   ⟹   ENSP00000361644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX106,032,435 - 106,038,727 (-)Ensembl
RefSeq Acc Id: ENST00000487487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX106,033,687 - 106,035,280 (-)Ensembl
RefSeq Acc Id: NM_000354   ⟹   NP_000345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X106,032,435 - 106,038,727 (-)NCBI
GRCh37X105,277,190 - 105,282,718 (-)ENTREZGENE
Build 36X105,163,853 - 105,167,722 (-)NCBI Archive
HuRefX94,904,096 - 94,909,653 (-)ENTREZGENE
CHM1_1X105,188,486 - 105,194,014 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262180   ⟹   XP_005262237
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X106,032,439 - 106,038,725 (-)NCBI
GRCh37X105,277,190 - 105,282,718 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724683   ⟹   XP_006724746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X106,032,439 - 106,038,725 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000345   ⟸   NM_000354
- Peptide Label: precursor
- UniProtKB: P05543 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262237   ⟸   XM_005262180
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_006724746   ⟸   XM_006724683
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000361644   ⟸   ENST00000372563
RefSeq Acc Id: ENSP00000329374   ⟸   ENST00000327674

Promoters
RGD ID:13627776
Promoter ID:EPDNEW_H29163
Type:multiple initiation site
Name:SERPINA7_1
Description:serpin family A member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X106,038,727 - 106,038,787EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) single nucleotide variant Thyroxine-binding globulin, variant P [RCV000010442] ChrX:106034370 [GRCh38]
ChrX:105278361 [GRCh37]
ChrX:Xq22.3
pathogenic|other
NM_000354.5(SERPINA7):c.571G>A (p.Asp191Asn) single nucleotide variant Thyroxine-binding globulin, slow [RCV000010444] ChrX:106036488 [GRCh38]
ChrX:105280479 [GRCh37]
ChrX:Xq22.3
pathogenic|other
NM_000354.5(SERPINA7):c.1051C>T (p.His351Tyr) single nucleotide variant Thyroxine-binding globulin deficiency, partial [RCV000010446] ChrX:106033697 [GRCh38]
ChrX:105277688 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.397G>C (p.Ala133Pro) single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010449] ChrX:106036662 [GRCh38]
ChrX:105280653 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.347T>A (p.Ile116Asn) single nucleotide variant Thyroxine-binding globulin deficiency, partial [RCV000010454] ChrX:106036712 [GRCh38]
ChrX:105280703 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_000354.5(SERPINA7):c.986A>T (p.Tyr329Phe) single nucleotide variant Thyroxine-binding globulin, Chicago [RCV000010459] ChrX:106034293 [GRCh38]
ChrX:105278284 [GRCh37]
ChrX:Xq22.3
pathogenic|other
TBG, DUP duplication Thyroxine-binding globulin quantitative trait locus [RCV000010461] ChrX:Xq22.2 pathogenic|association
NM_000354.5(SERPINA7):c.1148C>T (p.Pro383Leu) single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010462] ChrX:106033600 [GRCh38]
ChrX:105277591 [GRCh37]
ChrX:Xq22.3
pathogenic|association|other
NM_000354.5(SERPINA7):c.899G>A (p.Trp300Ter) single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010464] ChrX:106034380 [GRCh38]
ChrX:105278371 [GRCh37]
ChrX:Xq22.3
pathogenic|association
TBG, 19-BP DEL, EX4 deletion Thyroxine-binding globulin quantitative trait locus [RCV000010471] ChrX:Xq22.2 pathogenic|association
TBG, 1-BP DEL, 2690G deletion Thyroxine-binding globulin quantitative trait locus [RCV000010472] ChrX:Xq22.2 pathogenic|association
TBG, 1-BP DEL, 3358G deletion Thyroxine-binding globulin quantitative trait locus [RCV000010473] ChrX:Xq22.2 pathogenic|association
NM_000354.6(SERPINA7):c.740T>C (p.Leu247Pro) single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010437] ChrX:106035268 [GRCh38]
ChrX:105279259 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.631G>A (p.Ala211Thr) single nucleotide variant Thyroxine-binding globulin deficiency [RCV000490381]|Thyroxine-binding globulin, variant A [RCV000010439]|not provided [RCV000953779] ChrX:106035377 [GRCh38]
ChrX:105279368 [GRCh37]
ChrX:Xq22.3
pathogenic|benign|uncertain significance|other
NM_000354.5(SERPINA7):c.555delT (p.Val186Trpfs) deletion Thyroxine-binding globulin quantitative trait locus [RCV000010452] ChrX:106036504 [GRCh38]
ChrX:105280495 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.1114delC (p.Leu372Phefs) deletion Thyroxine-binding globulin quantitative trait locus [RCV000010457] ChrX:106033634 [GRCh38]
ChrX:105277625 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.623-2A>G single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010467] ChrX:106035387 [GRCh38]
ChrX:105279378 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.174delT (p.Val59Trpfs) deletion Thyroxine-binding globulin quantitative trait locus [RCV000010469] ChrX:106036885 [GRCh38]
ChrX:105280876 [GRCh37]
ChrX:Xq22.3
pathogenic|association
NM_000354.5(SERPINA7):c.1044+5G>A single nucleotide variant Thyroxine-binding globulin quantitative trait locus [RCV000010474] ChrX:106034230 [GRCh38]
ChrX:105278221 [GRCh37]
ChrX:Xq22.3
pathogenic|association
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:10679-156022206)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 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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3
pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3 copy number gain See cases [RCV000052441] ChrX:101620923..107632397 [GRCh38]
ChrX:100875913..106875627 [GRCh37]
ChrX:100762569..106762283 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xq22.3(chrX:105891235-106425782)x2 copy number gain See cases [RCV000052442] ChrX:105891235..106425782 [GRCh38]
ChrX:105135228..105669012 [GRCh37]
ChrX:105021884..105555668 [NCBI36]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000354.5(SERPINA7):c.1115T>G (p.Leu372Arg) single nucleotide variant Malignant melanoma [RCV000073027] ChrX:106033633 [GRCh38]
ChrX:105277624 [GRCh37]
ChrX:105164280 [NCBI36]
ChrX:Xq22.3
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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-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 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 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 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 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 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 Xq22.3(chrX:105915695-106378058)x3 copy number gain See cases [RCV000141618] ChrX:105915695..106378058 [GRCh38]
ChrX:105159687..105621288 [GRCh37]
ChrX:105046343..105507944 [NCBI36]
ChrX:Xq22.3
uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 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-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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 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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
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 Xq22.3(chrX:105137256-105666666)x3 copy number gain See cases [RCV000449199] ChrX:105137256..105666666 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 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 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000354.6(SERPINA7):c.1188G>T (p.Leu396Phe) single nucleotide variant not provided [RCV000439585] ChrX:106033560 [GRCh38]
ChrX:105277551 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:105098359-105625090) copy number gain Abnormality of esophagus morphology [RCV000416805] ChrX:105098359..105625090 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
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 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 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 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
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 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
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 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 Xq22.3(chrX:105152282-105639481)x2 copy number gain not provided [RCV000753696] ChrX:105152282..105639481 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq22.3(chrX:105261937-105318895)x2 copy number gain not provided [RCV000753697] ChrX:105261937..105318895 [GRCh37]
ChrX:Xq22.3
benign
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 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000354.6(SERPINA7):c.1242A>C (p.Glu414Asp) single nucleotide variant not provided [RCV000958344] ChrX:106033506 [GRCh38]
ChrX:105277497 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq22.3(chrX:104728884-105652106)x0 copy number loss not provided [RCV001007331] ChrX:104728884..105652106 [GRCh37]
ChrX:Xq22.3
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
NM_000354.6(SERPINA7):c.1055A>T (p.Lys352Met) single nucleotide variant not provided [RCV000881093] ChrX:106033693 [GRCh38]
ChrX:105277684 [GRCh37]
ChrX:Xq22.3
benign
NM_000354.6(SERPINA7):c.22G>T (p.Val8Phe) single nucleotide variant not provided [RCV000888606] ChrX:106037037 [GRCh38]
ChrX:105281028 [GRCh37]
ChrX:Xq22.3
benign
NM_000354.6(SERPINA7):c.207C>A (p.Ser69=) single nucleotide variant not provided [RCV000894583] ChrX:106036852 [GRCh38]
ChrX:105280843 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993774] ChrX:102066350..105409822 [GRCh37]
ChrX:Xq22.1-22.3
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 Xq22.1-22.3(chrX:102436725-105520605)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993773] ChrX:102436725..105520605 [GRCh37]
ChrX:Xq22.1-22.3
uncertain significance
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1 copy number loss Early Onset Neurological Disease Trait [RCV000993775] ChrX:101029649..106702784 [GRCh37]
ChrX:Xq22.1-22.3
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq22.3(chrX:105137256-105661848)x3 copy number gain not provided [RCV001259488] ChrX:105137256..105661848 [GRCh37]
ChrX:Xq22.3
likely benign
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11583 AgrOrtholog
COSMIC SERPINA7 COSMIC
Ensembl Genes ENSG00000123561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000329374 UniProtKB/Swiss-Prot
  ENSP00000361644 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327674 UniProtKB/Swiss-Prot
  ENST00000372563 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot
  3.30.497.10 UniProtKB/Swiss-Prot
GTEx ENSG00000123561 GTEx
HGNC ID HGNC:11583 ENTREZGENE
Human Proteome Map SERPINA7 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot
  Serpin_dom UniProtKB/Swiss-Prot
  Serpin_fam UniProtKB/Swiss-Prot
  Serpin_sf UniProtKB/Swiss-Prot
  Serpin_sf_1 UniProtKB/Swiss-Prot
  Serpin_sf_2 UniProtKB/Swiss-Prot
KEGG Report hsa:6906 UniProtKB/Swiss-Prot
NCBI Gene 6906 ENTREZGENE
OMIM 300932 OMIM
  314200 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot
Pfam Serpin UniProtKB/Swiss-Prot
PharmGKB PA36347 PharmGKB
PROSITE SERPIN UniProtKB/Swiss-Prot
SMART SERPIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot
UniProt P05543 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DUX1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINA7  serpin family A member 7    serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7  Symbol and/or name change 5135510 APPROVED