TBXAS1 (thromboxane A synthase 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: TBXAS1 (thromboxane A synthase 1) Homo sapiens
Analyze
Symbol: TBXAS1
Name: thromboxane A synthase 1
RGD ID: 736923
HGNC Page HGNC:11609
Description: Enables heme binding activity; hydroperoxy icosatetraenoate dehydratase activity; and thromboxane-A synthase activity. Involved in prostaglandin biosynthetic process. Located in cytosol and endoplasmic reticulum membrane. Implicated in Ghosal hematodiaphyseal syndrome and cerebral infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BDPLT14; CYP5; CYP5A1; cytochrome P450 5A1; cytochrome P450, family 5, subfamily A, polypeptide 1; FLJ52771; GHOSAL; hydroperoxy icosatetraenoate dehydratase; platelet, cytochrome P450, subfamily V; THAS; thromboxane A synthase 1 (platelet); thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A); thromboxane-A synthase; TS; TXA synthase; TXAS; TXS
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
GRCh387139,778,242 - 140,020,293 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7139,777,051 - 140,020,325 (+)EnsemblGRCh38hg38GRCh38
GRCh377139,478,041 - 139,720,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367139,175,421 - 139,366,471 (+)NCBINCBI36Build 36hg18NCBI36
Build 347138,982,135 - 139,173,186NCBI
Celera7134,200,105 - 134,441,970 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7133,772,488 - 134,013,944 (+)NCBIHuRef
CHM1_17139,412,286 - 139,654,615 (+)NCBICHM1_1
T2T-CHM13v2.07141,091,534 - 141,333,885 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dimethylhydrazine  (ISO)
12-HHTrE  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-palmitoylglycerol  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (ISO)
asbestos  (EXP)
atrazine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroacetaldehyde  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
elemental selenium  (ISO)
epoxiconazole  (ISO)
ferric oxide  (ISO)
folic acid  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP)
ifosfamide  (EXP)
ketoconazole  (ISO)
kojic acid  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
methoxamine  (ISO)
methoxychlor  (ISO)
methylseleninic acid  (ISO)
monocrotaline  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
ozone  (EXP)
paracetamol  (ISO)
parthenolide  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
protein kinase inhibitor  (EXP)
quinolone  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (EXP)
succimer  (ISO)
sulfasalazine  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
thromboxane B2  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The effect of ozagrel sodium on photochemical thrombosis in rat: therapeutic window and combined therapy with heparin sodium. Arii K, etal., Life Sci. 2002 Nov 8;71(25):2983-94.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The combined use of prostaglandin I2 analogue (OP-2507) and thromboxane A2 synthetase inhibitor (OKY-046) strongly inhibits atherosclerosis of aortic allografts in rats. Hirano T, etal., Surgery. 2001 May;129(5):595-605.
4. The effects of a thromboxane A2 synthesis inhibitor and a prostaglandin I2 analogue on experimental acute necrotizing pancreatitis in rats. Iida T, etal., Pancreas. 1998 Aug;17(2):140-7.
5. Effect of ozagrel, a selective thromboxane A2-synthetase inhibitor, on cerebral infarction in rats. Comparative study with norphenazone, a free-radical scavenger. Imamura T, etal., Arzneimittelforschung. 2003;53(10):688-94.
6. Inhibition of prostaglandin synthesis during polystyrene microsphere-induced pulmonary embolism in the rat. Jones AE, etal., Am J Physiol Lung Cell Mol Physiol. 2003 Jun;284(6):L1072-81. Epub 2003 Mar 14.
7. A long-acting prostacyclin agonist with thromboxane inhibitory activity for pulmonary hypertension. Kataoka M, etal., Am J Respir Crit Care Med. 2005 Dec 15;172(12):1575-80. Epub 2005 Sep 28.
8. Inhibition of thromboxane synthesis attenuates insulin hypertension in rats. Keen HL, etal., Am J Hypertens. 1997 Oct;10(10 Pt 1):1125-31.
9. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
10. Effect of thromboxane A2 inhibition and antagonism on prostaglandin and leukotriene synthesis in glomerular immune injury. Lianos EA and Bresnahan BA, J Lab Clin Med. 1999 Nov;134(5):478-82.
11. Molecular mechanisms regulating the vascular prostacyclin pathways and their adaptation during pregnancy and in the newborn. Majed BH and Khalil RA, Pharmacol Rev. 2012 Jul;64(3):540-82. doi: 10.1124/pr.111.004770. Epub 2012 Jun 7.
12. Effect of DP-1904, a thromboxane A2 synthase inhibitor, on passive Heymann nephritis in rats. Nagao T, etal., Eur J Pharmacol. 1996 Nov 28;316(1):73-80.
13. Alterations in thromboxane synthase and thromboxane A2 receptors in experimental alcoholic liver disease. Nanji AA, etal., J Pharmacol Exp Ther. 1997 Aug;282(2):1037-43.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. Park SA, etal., BMB Rep. 2009 Apr 30;42(4):200-5.
16. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
17. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Rat kidney thromboxane synthase: cDNA cloning and gene expression regulation in hydronephrotic kidney. Tsutsumi E, etal., Prostaglandins 1997 Jun;53(6):423-31.
22. Thromboxane A2 from Kupffer cells contributes to the hyperresponsiveness of hepatic portal circulation to endothelin-1 in endotoxemic rats. Xu H, etal., Am J Physiol Gastrointest Liver Physiol. 2005 Feb;288(2):G277-83.
Additional References at PubMed
PMID:1714723   PMID:1730669   PMID:1930241   PMID:2043115   PMID:2195994   PMID:6101498   PMID:7925341   PMID:7986068   PMID:8125298   PMID:8198598   PMID:8325653   PMID:8366093  
PMID:8889548   PMID:8900410   PMID:8964509   PMID:9678486   PMID:9847074   PMID:9890157   PMID:10391209   PMID:10391210   PMID:11097184   PMID:11297515   PMID:11337467   PMID:11418589  
PMID:11465543   PMID:11782360   PMID:11956185   PMID:12432933   PMID:12477932   PMID:12721789   PMID:12853948   PMID:14565864   PMID:14718574   PMID:15067173   PMID:15128046   PMID:15489334  
PMID:15870920   PMID:16357168   PMID:17207965   PMID:17459323   PMID:18264100   PMID:19046748   PMID:19064572   PMID:19114962   PMID:19124506   PMID:19276290   PMID:19343046   PMID:19729601  
PMID:19913121   PMID:20227257   PMID:20379614   PMID:20383787   PMID:20452482   PMID:20628086   PMID:20647010   PMID:20673868   PMID:20677014   PMID:20931532   PMID:21215134   PMID:21388528  
PMID:21449675   PMID:21873635   PMID:22293189   PMID:22493072   PMID:22735388   PMID:23007406   PMID:23251661   PMID:23314748   PMID:23763970   PMID:23793025   PMID:24009185   PMID:24086445  
PMID:24529757   PMID:24556579   PMID:26027242   PMID:26117917   PMID:26252103   PMID:26974824   PMID:28108096   PMID:28514442   PMID:28704403   PMID:28868793   PMID:30021884   PMID:30039765  
PMID:30397336   PMID:31026093   PMID:33185009   PMID:33527589   PMID:33595912   PMID:33961781   PMID:35395429   PMID:35923246   PMID:38320993  


Genomics

Comparative Map Data
TBXAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387139,778,242 - 140,020,293 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7139,777,051 - 140,020,325 (+)EnsemblGRCh38hg38GRCh38
GRCh377139,478,041 - 139,720,093 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367139,175,421 - 139,366,471 (+)NCBINCBI36Build 36hg18NCBI36
Build 347138,982,135 - 139,173,186NCBI
Celera7134,200,105 - 134,441,970 (+)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7133,772,488 - 134,013,944 (+)NCBIHuRef
CHM1_17139,412,286 - 139,654,615 (+)NCBICHM1_1
T2T-CHM13v2.07141,091,534 - 141,333,885 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)NCBI
Tbxas1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39638,817,897 - 39,061,524 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl638,852,338 - 39,061,519 (+)EnsemblGRCm39 Ensembl
GRCm38638,864,159 - 39,084,590 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl638,875,404 - 39,084,585 (+)EnsemblGRCm38mm10GRCm38
MGSCv37638,868,985 - 39,034,578 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36638,848,593 - 39,014,186 (+)NCBIMGSCv36mm8
Celera638,900,560 - 39,068,678 (+)NCBICelera
Cytogenetic Map6B1NCBI
cM Map617.85NCBI
Tbxas1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8468,631,841 - 68,803,959 (+)NCBIGRCr8
mRatBN7.2467,664,963 - 67,837,096 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl467,665,007 - 67,837,096 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx472,601,545 - 72,761,480 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0468,522,641 - 68,682,583 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0466,919,149 - 67,090,895 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0466,624,181 - 66,846,745 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl466,670,618 - 66,846,805 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0466,481,238 - 66,651,613 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4466,502,253 - 66,677,538 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1466,778,382 - 66,953,668 (+)NCBI
Celera462,678,426 - 62,850,218 (+)NCBICelera
Cytogenetic Map4q23NCBI
Tbxas1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554943,160,653 - 3,334,411 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554943,161,032 - 3,321,974 (-)NCBIChiLan1.0ChiLan1.0
TBXAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26176,628,283 - 176,813,856 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1728,638,540 - 28,824,110 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07131,772,947 - 131,958,647 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17144,255,211 - 144,439,523 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7144,255,211 - 144,439,523 (+)Ensemblpanpan1.1panPan2
TBXAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1168,870,283 - 9,032,105 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl168,870,284 - 9,023,462 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha169,713,633 - 9,875,421 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0168,790,596 - 8,952,392 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl168,790,601 - 8,943,758 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1168,741,298 - 8,903,058 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0168,585,677 - 8,747,453 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0168,654,393 - 8,816,178 (-)NCBIUU_Cfam_GSD_1.0
Tbxas1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511815,026,973 - 15,181,690 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365924,038,074 - 4,192,808 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365924,038,163 - 4,192,772 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBXAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl189,717,294 - 9,886,681 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1189,717,291 - 9,886,699 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21810,223,765 - 10,394,512 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TBXAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121108,584,458 - 108,779,357 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21108,628,570 - 108,779,163 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660725,240,087 - 5,435,240 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbxas1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476520,146,138 - 20,315,797 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476520,145,769 - 20,314,992 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBXAS1
244 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) single nucleotide variant Inborn genetic diseases [RCV003258949]|not provided [RCV000728919] Chr7:139955542 [GRCh38]
Chr7:139655341 [GRCh37]
Chr7:7q34		 conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.224G>A (p.Gly75Glu) single nucleotide variant not provided [RCV000729384] Chr7:139875625 [GRCh38]
Chr7:139575424 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1460T>C (p.Leu487Pro) single nucleotide variant Ghosal hematodiaphyseal syndrome [RCV000012661] Chr7:140017766 [GRCh38]
Chr7:139717566 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.245T>C (p.Leu82Pro) single nucleotide variant Ghosal hematodiaphyseal syndrome [RCV000012662]|not provided [RCV000178142] Chr7:139911233 [GRCh38]
Chr7:139611032 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_001061.7(TBXAS1):c.1441G>T (p.Gly481Trp) single nucleotide variant Ghosal hematodiaphyseal syndrome [RCV000012663] Chr7:140017747 [GRCh38]
Chr7:139717547 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV001283757]|Ghosal hematodiaphyseal syndrome [RCV000012664]|not provided [RCV001571663] Chr7:140015731 [GRCh38]
Chr7:139715531 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.122_135del (p.Lys41fs) deletion Ghosal hematodiaphyseal dysplasia [RCV001523794]|not provided [RCV001871642] Chr7:139872264..139872277 [GRCh38]
Chr7:139572063..139572076 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q34(chr7:138795539-140364913)x3 copy number gain See cases [RCV000053550] Chr7:138795539..140364913 [GRCh38]
Chr7:138480284..140064713 [GRCh37]
Chr7:138130824..139711182 [NCBI36]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1		 pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35		 pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3		 pathogenic
NM_001061.4(TBXAS1):c.617C>T (p.Pro206Leu) single nucleotide variant Malignant melanoma [RCV000067666] Chr7:139955533 [GRCh38]
Chr7:139655332 [GRCh37]
Chr7:139301801 [NCBI36]
Chr7:7q34		 not provided
NM_001061.4(TBXAS1):c.751G>A (p.Glu251Lys) single nucleotide variant Malignant melanoma [RCV000067667] Chr7:139957693 [GRCh38]
Chr7:139657492 [GRCh37]
Chr7:139303961 [NCBI36]
Chr7:7q34		 not provided
NM_001061.4(TBXAS1):c.1082A>G (p.Asn361Ser) single nucleotide variant Malignant melanoma [RCV000067668] Chr7:139962178 [GRCh38]
Chr7:139661977 [GRCh37]
Chr7:139308446 [NCBI36]
Chr7:7q34		 not provided
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) deletion Ghosal hematodiaphyseal dysplasia [RCV001542423]|not provided [RCV000174274] Chr7:140017723 [GRCh38]
Chr7:139717523 [GRCh37]
Chr7:7q34		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) single nucleotide variant TBXAS1-related condition [RCV003955016]|not provided [RCV000173726] Chr7:140007115 [GRCh38]
Chr7:139706915 [GRCh37]
Chr7:7q34		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q34(chr7:139476271-140449156)x1 copy number loss See cases [RCV000142350] Chr7:139476271..140449156 [GRCh38]
Chr7:139161017..140148956 [GRCh37]
Chr7:138811557..139795425 [NCBI36]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3		 pathogenic
NM_001061.7(TBXAS1):c.208C>T (p.Leu70Phe) single nucleotide variant not provided [RCV000903952]|not specified [RCV000177111] Chr7:139875609 [GRCh38]
Chr7:139575408 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.193G>A (p.Glu65Lys) single nucleotide variant not provided [RCV000177112] Chr7:139875594 [GRCh38]
Chr7:139575393 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.90-1G>C single nucleotide variant not provided [RCV000238661] Chr7:139872234 [GRCh38]
Chr7:139572033 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_001061.7(TBXAS1):c.364G>A (p.Asp122Asn) single nucleotide variant not provided [RCV000595775] Chr7:139936221 [GRCh38]
Chr7:139636020 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1349C>A (p.Thr450Asn) single nucleotide variant not provided [RCV002059221]|not specified [RCV000374826] Chr7:140015845 [GRCh38]
Chr7:139715645 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=) single nucleotide variant not provided [RCV000276994] Chr7:139829441 [GRCh38]
Chr7:139529240 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) single nucleotide variant Abnormal bleeding [RCV001270607]|Inborn genetic diseases [RCV002521911]|not provided [RCV000359646] Chr7:140017826 [GRCh38]
Chr7:139717626 [GRCh37]
Chr7:7q34		 conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.992T>C (p.Ile331Thr) single nucleotide variant not provided [RCV000394990] Chr7:139962091 [GRCh38]
Chr7:139661890 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.179G>T (p.Arg60Leu) single nucleotide variant not provided [RCV000399934] Chr7:139872324 [GRCh38]
Chr7:139572123 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1345G>A (p.Glu449Lys) single nucleotide variant not provided [RCV002065154]|not specified [RCV000596946] Chr7:140015841 [GRCh38]
Chr7:139715641 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.856C>T (p.Arg286Ter) single nucleotide variant not provided [RCV000599095] Chr7:139961955 [GRCh38]
Chr7:139661754 [GRCh37]
Chr7:7q34		 conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.357G>A (p.Ser119=) single nucleotide variant TBXAS1-related condition [RCV003927922]|not provided [RCV000971895]|not specified [RCV000597392] Chr7:139936214 [GRCh38]
Chr7:139636013 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs) deletion Ghosal hematodiaphyseal dysplasia [RCV000768381] Chr7:139955498..139955499 [GRCh38]
Chr7:139655297..139655298 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_001061.7(TBXAS1):c.-6G>A single nucleotide variant not provided [RCV000733022] Chr7:139829385 [GRCh38]
Chr7:139529184 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) single nucleotide variant TBXAS1-related condition [RCV003938119]|not provided [RCV000732832]|not specified [RCV001824873] Chr7:140017700 [GRCh38]
Chr7:139717500 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.893_898del (p.Asp298_Ile299del) deletion not provided [RCV000413403] Chr7:139961991..139961996 [GRCh38]
Chr7:139661790..139661795 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001061.7(TBXAS1):c.790G>T (p.Ala264Ser) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV001270143]|not provided [RCV000497429] Chr7:139957735 [GRCh38]
Chr7:139657534 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV000987981]|not provided [RCV002062030]|not specified [RCV000593995] Chr7:139962165 [GRCh38]
Chr7:139661964 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.183+5G>A single nucleotide variant not provided [RCV002065163]|not specified [RCV000595018] Chr7:139872333 [GRCh38]
Chr7:139572132 [GRCh37]
Chr7:7q34		 benign
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3		 likely pathogenic
NM_001061.7(TBXAS1):c.593C>T (p.Pro198Leu) single nucleotide variant Inborn genetic diseases [RCV003251178] Chr7:139955512 [GRCh38]
Chr7:139655311 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.924G>A (p.Gly308=) single nucleotide variant not provided [RCV000596395] Chr7:139962023 [GRCh38]
Chr7:139661822 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3 copy number gain See cases [RCV000512176] Chr7:137434852..140349546 [GRCh37]
Chr7:7q33-34		 uncertain significance
NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr) single nucleotide variant not provided [RCV000512886]|not specified [RCV003330736] Chr7:139911251 [GRCh38]
Chr7:139611050 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His) single nucleotide variant TBXAS1-related condition [RCV003918102]|not provided [RCV000659091]|not specified [RCV003235330] Chr7:139872324 [GRCh38]
Chr7:139572123 [GRCh37]
Chr7:7q34		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7q34(chr7:139536714-139850247)x3 copy number gain not provided [RCV000682822] Chr7:139536714..139850247 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q34(chr7:139420225-139680431)x3 copy number gain not provided [RCV000747068] Chr7:139420225..139680431 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35		 benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3		 pathogenic
NM_001061.7(TBXAS1):c.1527+9C>A single nucleotide variant not provided [RCV000980807] Chr7:140017842 [GRCh38]
Chr7:139717642 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1227-181A>G single nucleotide variant not provided [RCV001708946] Chr7:140015542 [GRCh38]
Chr7:139715342 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1254C>T (p.Cys418=) single nucleotide variant not provided [RCV000922955] Chr7:140015750 [GRCh38]
Chr7:139715550 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu) single nucleotide variant TBXAS1-related condition [RCV003903168]|not provided [RCV000947073] Chr7:140015742 [GRCh38]
Chr7:139715542 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_001061.7(TBXAS1):c.15G>T (p.Gly5=) single nucleotide variant not provided [RCV000979247] Chr7:139829405 [GRCh38]
Chr7:139529204 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.880G>A (p.Val294Met) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV002479100]|not provided [RCV000953575] Chr7:139961979 [GRCh38]
Chr7:139661778 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.1311C>T (p.Ala437=) single nucleotide variant not provided [RCV000896456] Chr7:140015807 [GRCh38]
Chr7:139715607 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.769A>G (p.Lys257Glu) single nucleotide variant not provided [RCV000968616] Chr7:139957714 [GRCh38]
Chr7:139657513 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1203G>A (p.Leu401=) single nucleotide variant not provided [RCV000885885] Chr7:140007159 [GRCh38]
Chr7:139706959 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV000768333]|not provided [RCV001855972]|not specified [RCV002249469] Chr7:140017723 [GRCh38]
Chr7:139717523 [GRCh37]
Chr7:7q34		 likely pathogenic|uncertain significance
GRCh37/hg19 7q34(chr7:139478979-139550968) copy number gain Imperforate anus [RCV000986109] Chr7:139478979..139550968 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q34(chr7:139548076-139680096)x1 copy number loss not provided [RCV000846715] Chr7:139548076..139680096 [GRCh37]
Chr7:7q34		 pathogenic
GRCh37/hg19 7q34(chr7:139537665-139839752)x3 copy number gain not provided [RCV000847542] Chr7:139537665..139839752 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3		 pathogenic
NC_000007.14:g.139955459del deletion not provided [RCV003105194] Chr7:139955458 [GRCh38]
Chr7:139655257 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_001061.7(TBXAS1):c.1364+206T>C single nucleotide variant not provided [RCV001638360] Chr7:140016066 [GRCh38]
Chr7:139715866 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1364+272T>C single nucleotide variant not provided [RCV001621350] Chr7:140016132 [GRCh38]
Chr7:139715932 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1364+310T>A single nucleotide variant not provided [RCV001685990] Chr7:140016170 [GRCh38]
Chr7:139715970 [GRCh37]
Chr7:7q34		 benign
NM_001130966.5(TBXAS1):c.-79-449G>T single nucleotide variant not provided [RCV001613990] Chr7:139828863 [GRCh38]
Chr7:139528662 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1364+251G>A single nucleotide variant not provided [RCV001621031] Chr7:140016111 [GRCh38]
Chr7:139715911 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.447C>T (p.Asn149=) single nucleotide variant TBXAS1-related condition [RCV003940538]|not provided [RCV000885985] Chr7:139936304 [GRCh38]
Chr7:139636103 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu) single nucleotide variant not provided [RCV000964646]|not specified [RCV002249588] Chr7:139953397 [GRCh38]
Chr7:139653196 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.1285G>A (p.Ala429Thr) single nucleotide variant not provided [RCV000955383] Chr7:140015781 [GRCh38]
Chr7:139715581 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1302C>T (p.Ala434=) single nucleotide variant not provided [RCV000955384] Chr7:140015798 [GRCh38]
Chr7:139715598 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.335C>T (p.Ala112Val) single nucleotide variant Inborn genetic diseases [RCV003284377]|not provided [RCV001572886] Chr7:139936192 [GRCh38]
Chr7:139635991 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.1226+158A>G single nucleotide variant not provided [RCV001656417] Chr7:140007340 [GRCh38]
Chr7:139707140 [GRCh37]
Chr7:7q34		 benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1 copy number loss not provided [RCV001006019] Chr7:135677938..139810886 [GRCh37]
Chr7:7q33-34		 pathogenic
NM_001061.7(TBXAS1):c.689-212T>C single nucleotide variant not provided [RCV001694875] Chr7:139957422 [GRCh38]
Chr7:139657221 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.251G>T (p.Arg84Leu) single nucleotide variant Thromboxane synthetase deficiency [RCV001335602]|not provided [RCV001039643] Chr7:139911239 [GRCh38]
Chr7:139611038 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.193G>T (p.Glu65Ter) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV001332733] Chr7:139875594 [GRCh38]
Chr7:139575393 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.1420G>A (p.Ala474Thr) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV001542424] Chr7:140017726 [GRCh38]
Chr7:139717526 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1365-293T>C single nucleotide variant not provided [RCV001688241] Chr7:140017378 [GRCh38]
Chr7:139717178 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1527+26G>A single nucleotide variant not provided [RCV001616146] Chr7:140017859 [GRCh38]
Chr7:139717659 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.796C>T (p.Arg266Trp) single nucleotide variant not provided [RCV001772527] Chr7:139957741 [GRCh38]
Chr7:139657540 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35		 pathogenic
NM_001061.7(TBXAS1):c.797G>C (p.Arg266Pro) single nucleotide variant not provided [RCV001764957] Chr7:139957742 [GRCh38]
Chr7:139657541 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.742C>T (p.Arg248Ter) single nucleotide variant not provided [RCV001763549] Chr7:139957687 [GRCh38]
Chr7:139657486 [GRCh37]
Chr7:7q34		 conflicting interpretations of pathogenicity|uncertain significance
NM_001061.7(TBXAS1):c.238T>C (p.Tyr80His) single nucleotide variant Inborn genetic diseases [RCV003198685] Chr7:139911226 [GRCh38]
Chr7:139611025 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.794T>A (p.Leu265Ter) single nucleotide variant not provided [RCV001758706] Chr7:139957739 [GRCh38]
Chr7:139657538 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_001061.7(TBXAS1):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV002044652] Chr7:139957667 [GRCh38]
Chr7:139657466 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1370C>T (p.Thr457Met) single nucleotide variant not provided [RCV001871402] Chr7:140017676 [GRCh38]
Chr7:139717476 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1423G>A (p.Gly475Ser) single nucleotide variant Inborn genetic diseases [RCV003348558]|not provided [RCV001864573] Chr7:140017729 [GRCh38]
Chr7:139717529 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.333+4C>T single nucleotide variant not provided [RCV002043226] Chr7:139911325 [GRCh38]
Chr7:139611124 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.954G>T (p.Gln318His) single nucleotide variant not provided [RCV001874727] Chr7:139962053 [GRCh38]
Chr7:139661852 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.692C>T (p.Ser231Leu) single nucleotide variant not provided [RCV001890160] Chr7:139957637 [GRCh38]
Chr7:139657436 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.356C>T (p.Ser119Leu) single nucleotide variant not provided [RCV001892042] Chr7:139936213 [GRCh38]
Chr7:139636012 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.506A>G (p.Tyr169Cys) single nucleotide variant not provided [RCV001945835] Chr7:139953423 [GRCh38]
Chr7:139653222 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_139529187)_(139662052_?)dup duplication not provided [RCV001985506] Chr7:139529187..139662052 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1271G>A (p.Arg424His) single nucleotide variant Inborn genetic diseases [RCV002561543]|not provided [RCV001987278] Chr7:140015767 [GRCh38]
Chr7:139715567 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.183+3A>G single nucleotide variant not provided [RCV001890565] Chr7:139872331 [GRCh38]
Chr7:139572130 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_001061.7(TBXAS1):c.1343C>T (p.Pro448Leu) single nucleotide variant not provided [RCV001924001] Chr7:140015839 [GRCh38]
Chr7:139715639 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.31G>C (p.Val11Leu) single nucleotide variant not provided [RCV001886183] Chr7:139829421 [GRCh38]
Chr7:139529220 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1381C>T (p.Arg461Trp) single nucleotide variant not provided [RCV001869886] Chr7:140017687 [GRCh38]
Chr7:139717487 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.302T>A (p.Val101Asp) single nucleotide variant not provided [RCV001943644] Chr7:139911290 [GRCh38]
Chr7:139611089 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1243G>A (p.Ala415Thr) single nucleotide variant not provided [RCV001917777] Chr7:140015739 [GRCh38]
Chr7:139715539 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.965T>A (p.Met322Lys) single nucleotide variant Inborn genetic diseases [RCV002545830]|not provided [RCV001876548] Chr7:139962064 [GRCh38]
Chr7:139661863 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_139611004)_(139611140_?)del deletion not provided [RCV001990149] Chr7:139611004..139611140 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1279G>A (p.Ala427Thr) single nucleotide variant not provided [RCV001879214] Chr7:140015775 [GRCh38]
Chr7:139715575 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.741C>G (p.Asn247Lys) single nucleotide variant not provided [RCV001952501] Chr7:139957686 [GRCh38]
Chr7:139657485 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.871C>T (p.Pro291Ser) single nucleotide variant not provided [RCV002046303] Chr7:139961970 [GRCh38]
Chr7:139661769 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_137761265)_(141759786_?)dup duplication not provided [RCV002014827] Chr7:137761265..141759786 [GRCh37]
Chr7:7q33-34		 uncertain significance
NC_000007.13:g.(?_139661698)_(139707002_?)dup duplication not provided [RCV001916255] Chr7:139661698..139707002 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1388A>G (p.Gln463Arg) single nucleotide variant Inborn genetic diseases [RCV002642090]|not provided [RCV002012894] Chr7:140017694 [GRCh38]
Chr7:139717494 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.1186G>C (p.Val396Leu) single nucleotide variant not provided [RCV001906983] Chr7:140007142 [GRCh38]
Chr7:139706942 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.629T>A (p.Val210Glu) single nucleotide variant not provided [RCV001991641] Chr7:139955548 [GRCh38]
Chr7:139655347 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1301C>T (p.Ala434Val) single nucleotide variant not provided [RCV001924865] Chr7:140015797 [GRCh38]
Chr7:139715597 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1273A>G (p.Ile425Val) single nucleotide variant not provided [RCV002012818] Chr7:140015769 [GRCh38]
Chr7:139715569 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1057G>T (p.Ala353Ser) single nucleotide variant not provided [RCV001994261] Chr7:139962156 [GRCh38]
Chr7:139661955 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.178C>T (p.Arg60Cys) single nucleotide variant not provided [RCV001958977] Chr7:139872323 [GRCh38]
Chr7:139572122 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV001933819] Chr7:139957742 [GRCh38]
Chr7:139657541 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1580A>G (p.Tyr527Cys) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV003444951]|Inborn genetic diseases [RCV003167006]|not provided [RCV001898557] Chr7:140020077 [GRCh38]
Chr7:139719877 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV002290847]|not provided [RCV002075310]|not specified [RCV003987966] Chr7:139957679 [GRCh38]
Chr7:139657478 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.592C>G (p.Pro198Ala) single nucleotide variant not provided [RCV002088280] Chr7:139955511 [GRCh38]
Chr7:139655310 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.999C>T (p.Gly333=) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV002498215]|not provided [RCV002206806] Chr7:139962098 [GRCh38]
Chr7:139661897 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.558C>A (p.Thr186=) single nucleotide variant not provided [RCV002085443] Chr7:139955477 [GRCh38]
Chr7:139655276 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1532C>T (p.Pro511Leu) single nucleotide variant not provided [RCV002129802] Chr7:140020029 [GRCh38]
Chr7:139719829 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.370G>A (p.Val124Ile) single nucleotide variant not provided [RCV002145171] Chr7:139936227 [GRCh38]
Chr7:139636026 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.334-15G>A single nucleotide variant not provided [RCV002129730] Chr7:139936176 [GRCh38]
Chr7:139635975 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.539+9G>A single nucleotide variant not provided [RCV002087879] Chr7:139953465 [GRCh38]
Chr7:139653264 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.297G>A (p.Val99=) single nucleotide variant not provided [RCV002210089] Chr7:139911285 [GRCh38]
Chr7:139611084 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.590C>A (p.Thr197Asn) single nucleotide variant not provided [RCV002169961] Chr7:139955509 [GRCh38]
Chr7:139655308 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.621T>A (p.Asp207Glu) single nucleotide variant TBXAS1-related condition [RCV003395417]|not provided [RCV002194135] Chr7:139955540 [GRCh38]
Chr7:139655339 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.75G>A (p.Leu25=) single nucleotide variant not provided [RCV002124819] Chr7:139829465 [GRCh38]
Chr7:139529264 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.414C>G (p.Ala138=) single nucleotide variant TBXAS1-related condition [RCV003923729]|not provided [RCV002109113] Chr7:139936271 [GRCh38]
Chr7:139636070 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.726T>C (p.Ile242=) single nucleotide variant TBXAS1-related condition [RCV003941321]|not provided [RCV002192063] Chr7:139957671 [GRCh38]
Chr7:139657470 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.1365-10G>A single nucleotide variant not provided [RCV002145124]|not specified [RCV003331304] Chr7:140017661 [GRCh38]
Chr7:139717461 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.555C>T (p.Tyr185=) single nucleotide variant not provided [RCV002151756] Chr7:139955474 [GRCh38]
Chr7:139655273 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1215G>A (p.Pro405=) single nucleotide variant not provided [RCV002096035] Chr7:140007171 [GRCh38]
Chr7:139706971 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1587G>A (p.Lys529=) single nucleotide variant not provided [RCV002078915] Chr7:140020084 [GRCh38]
Chr7:139719884 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.688+19C>T single nucleotide variant not provided [RCV002194576] Chr7:139955626 [GRCh38]
Chr7:139655425 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1201C>T (p.Leu401=) single nucleotide variant not provided [RCV002135726] Chr7:140007157 [GRCh38]
Chr7:139706957 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.236+20TTTCTATTATGTACGATAT[3] microsatellite not provided [RCV002204270] Chr7:139875656..139875657 [GRCh38]
Chr7:139575455..139575456 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.333+19G>A single nucleotide variant not provided [RCV002098075] Chr7:139911340 [GRCh38]
Chr7:139611139 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1269G>A (p.Gln423=) single nucleotide variant TBXAS1-related condition [RCV003951153]|not provided [RCV002183326] Chr7:140015765 [GRCh38]
Chr7:139715565 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.792C>T (p.Ala264=) single nucleotide variant not provided [RCV002154508] Chr7:139957737 [GRCh38]
Chr7:139657536 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.237-12dup duplication not provided [RCV002199071] Chr7:139911207..139911208 [GRCh38]
Chr7:139611006..139611007 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.539+12G>T single nucleotide variant not provided [RCV002142520] Chr7:139953468 [GRCh38]
Chr7:139653267 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1341C>T (p.Ser447=) single nucleotide variant not provided [RCV002081487] Chr7:140015837 [GRCh38]
Chr7:139715637 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.636C>T (p.His212=) single nucleotide variant not provided [RCV002119709] Chr7:139955555 [GRCh38]
Chr7:139655354 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys) single nucleotide variant TBXAS1-related condition [RCV003916336]|not provided [RCV002161274]|not specified [RCV002300650] Chr7:140015766 [GRCh38]
Chr7:139715566 [GRCh37]
Chr7:7q34		 benign|likely benign
NM_001061.7(TBXAS1):c.480= (p.Asp160=) variation not provided [RCV002118004] Chr7:139953397 [GRCh38]
Chr7:139653196 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.1255G>A (p.Glu419Lys) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV003445018]|not provided [RCV002083222] Chr7:140015751 [GRCh38]
Chr7:139715551 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.503G>A (p.Arg168His) single nucleotide variant Inborn genetic diseases [RCV002993443]|not provided [RCV002216885] Chr7:139953420 [GRCh38]
Chr7:139653219 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.338C>T (p.Ser113Leu) single nucleotide variant Inborn genetic diseases [RCV003375586]|not provided [RCV002139568] Chr7:139936195 [GRCh38]
Chr7:139635994 [GRCh37]
Chr7:7q34		 likely benign|uncertain significance
NM_001061.7(TBXAS1):c.1596C>T (p.Ser532=) single nucleotide variant not provided [RCV002156287] Chr7:140020093 [GRCh38]
Chr7:139719893 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_138391369)_(141759786_?)del deletion RASopathy [RCV003113440]|not provided [RCV003109447] Chr7:138391369..141759786 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001061.7(TBXAS1):c.1533G>A (p.Pro511=) single nucleotide variant not provided [RCV003112417] Chr7:140020030 [GRCh38]
Chr7:139719830 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.473C>A (p.Ala158Asp) single nucleotide variant not provided [RCV003114776] Chr7:139953390 [GRCh38]
Chr7:139653189 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_001061.7(TBXAS1):c.510G>A (p.Ala170=) single nucleotide variant not provided [RCV003118839] Chr7:139953427 [GRCh38]
Chr7:139653226 [GRCh37]
Chr7:7q34		 likely benign
NC_000007.13:g.(?_139715503)_(139715680_?)del deletion not provided [RCV003122421] Chr7:139715503..139715680 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_139635970)_(139636126_?)del deletion not provided [RCV003122422] Chr7:139635970..139636126 [GRCh37]
Chr7:7q34		 uncertain significance
NC_000007.13:g.(?_139575364)_(139611140_?)del deletion not provided [RCV003122423] Chr7:139575364..139611140 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.184G>T (p.Gly62Cys) single nucleotide variant not provided [RCV003118964] Chr7:139875585 [GRCh38]
Chr7:139575384 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.577G>A (p.Val193Ile) single nucleotide variant not provided [RCV003118972] Chr7:139955496 [GRCh38]
Chr7:139655295 [GRCh37]
Chr7:7q34		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_001061.7(TBXAS1):c.859C>T (p.His287Tyr) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV002264889] Chr7:139961958 [GRCh38]
Chr7:139661757 [GRCh37]
Chr7:7q34		 likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_001061.7(TBXAS1):c.302T>G (p.Val101Gly) single nucleotide variant not provided [RCV002296967] Chr7:139911290 [GRCh38]
Chr7:139611089 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1		 pathogenic
NM_001061.7(TBXAS1):c.1598G>A (p.Arg533His) single nucleotide variant not provided [RCV002615540] Chr7:140020095 [GRCh38]
Chr7:139719895 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.450+6A>G single nucleotide variant not provided [RCV002730980] Chr7:139936313 [GRCh38]
Chr7:139636112 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1371G>A (p.Thr457=) single nucleotide variant not provided [RCV002975519] Chr7:140017677 [GRCh38]
Chr7:139717477 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1284C>T (p.Gly428=) single nucleotide variant not provided [RCV002615095] Chr7:140015780 [GRCh38]
Chr7:139715580 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1417G>A (p.Gly473Arg) single nucleotide variant not provided [RCV002754912] Chr7:140017723 [GRCh38]
Chr7:139717523 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_001061.7(TBXAS1):c.1135-14G>A single nucleotide variant not provided [RCV002776268]|not specified [RCV003403916] Chr7:140007077 [GRCh38]
Chr7:139706877 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV002947272]|not provided [RCV002933387] Chr7:139829392 [GRCh38]
Chr7:139529191 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1136T>C (p.Met379Thr) single nucleotide variant Inborn genetic diseases [RCV002969664] Chr7:140007092 [GRCh38]
Chr7:139706892 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.878G>A (p.Gly293Asp) single nucleotide variant not provided [RCV002800213] Chr7:139961977 [GRCh38]
Chr7:139661776 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1422C>T (p.Ala474=) single nucleotide variant TBXAS1-related condition [RCV003943508]|not provided [RCV002796059] Chr7:140017728 [GRCh38]
Chr7:139717528 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1282G>A (p.Gly428Ser) single nucleotide variant Inborn genetic diseases [RCV002737942] Chr7:140015778 [GRCh38]
Chr7:139715578 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1143T>C (p.Pro381=) single nucleotide variant not provided [RCV002591216] Chr7:140007099 [GRCh38]
Chr7:139706899 [GRCh37]
Chr7:7q34		 benign
NM_001061.7(TBXAS1):c.973C>A (p.Pro325Thr) single nucleotide variant not provided [RCV002636457] Chr7:139962072 [GRCh38]
Chr7:139661871 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1393C>T (p.Arg465Trp) single nucleotide variant Inborn genetic diseases [RCV002869779] Chr7:140017699 [GRCh38]
Chr7:139717499 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1226+7G>A single nucleotide variant not provided [RCV002848463] Chr7:140007189 [GRCh38]
Chr7:139706989 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1365-10G>C single nucleotide variant not provided [RCV002761519] Chr7:140017661 [GRCh38]
Chr7:139717461 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.183+7G>A single nucleotide variant not provided [RCV002621023] Chr7:139872335 [GRCh38]
Chr7:139572134 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1496A>C (p.Lys499Thr) single nucleotide variant not provided [RCV002949415] Chr7:140017802 [GRCh38]
Chr7:139717602 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1005C>G (p.Ala335=) single nucleotide variant not provided [RCV002909199] Chr7:139962104 [GRCh38]
Chr7:139661903 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.243T>C (p.Tyr81=) single nucleotide variant not provided [RCV002694903] Chr7:139911231 [GRCh38]
Chr7:139611030 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1448G>A (p.Arg483His) single nucleotide variant not provided [RCV002592425] Chr7:140017754 [GRCh38]
Chr7:139717554 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1109_1110del (p.Glu370fs) microsatellite not provided [RCV002927261] Chr7:139962203..139962204 [GRCh38]
Chr7:139662002..139662003 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_001061.7(TBXAS1):c.1199C>T (p.Thr400Met) single nucleotide variant Inborn genetic diseases [RCV002870269] Chr7:140007155 [GRCh38]
Chr7:139706955 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.944G>A (p.Arg315Gln) single nucleotide variant not provided [RCV002645800] Chr7:139962043 [GRCh38]
Chr7:139661842 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.265G>A (p.Val89Ile) single nucleotide variant not provided [RCV002958081] Chr7:139911253 [GRCh38]
Chr7:139611052 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.50C>T (p.Thr17Met) single nucleotide variant TBXAS1-related condition [RCV003418652]|not provided [RCV002919217] Chr7:139829440 [GRCh38]
Chr7:139529239 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1590C>T (p.Ile530=) single nucleotide variant not provided [RCV002596048] Chr7:140020087 [GRCh38]
Chr7:139719887 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.580G>A (p.Ala194Thr) single nucleotide variant Inborn genetic diseases [RCV003062390]|not provided [RCV003058318] Chr7:139955499 [GRCh38]
Chr7:139655298 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1382G>A (p.Arg461Gln) single nucleotide variant not provided [RCV002786583] Chr7:140017688 [GRCh38]
Chr7:139717488 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.247G>C (p.Gly83Arg) single nucleotide variant not provided [RCV002623807] Chr7:139911235 [GRCh38]
Chr7:139611034 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1227-15T>C single nucleotide variant not provided [RCV002593982] Chr7:140015708 [GRCh38]
Chr7:139715508 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.184-11_184-10del microsatellite not provided [RCV002572316] Chr7:139875571..139875572 [GRCh38]
Chr7:139575370..139575371 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.594G>A (p.Pro198=) single nucleotide variant not provided [RCV002623441] Chr7:139955513 [GRCh38]
Chr7:139655312 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1365-11C>T single nucleotide variant not provided [RCV002574187] Chr7:140017660 [GRCh38]
Chr7:139717460 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.678G>A (p.Leu226=) single nucleotide variant not provided [RCV002805449] Chr7:139955597 [GRCh38]
Chr7:139655396 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.183+18T>G single nucleotide variant not provided [RCV002666765] Chr7:139872346 [GRCh38]
Chr7:139572145 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1597C>T (p.Arg533Cys) single nucleotide variant not provided [RCV002917760] Chr7:140020094 [GRCh38]
Chr7:139719894 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1083dup (p.Asp362Ter) duplication not provided [RCV002928547] Chr7:139962181..139962182 [GRCh38]
Chr7:139661980..139661981 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_001061.7(TBXAS1):c.1543G>A (p.Glu515Lys) single nucleotide variant Inborn genetic diseases [RCV002853789] Chr7:140020040 [GRCh38]
Chr7:139719840 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.540-14C>T single nucleotide variant not provided [RCV002626230] Chr7:139955445 [GRCh38]
Chr7:139655244 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.614_615del (p.Pro205fs) deletion not provided [RCV002626624] Chr7:139955533..139955534 [GRCh38]
Chr7:139655332..139655333 [GRCh37]
Chr7:7q34		 pathogenic|uncertain significance
NM_001061.7(TBXAS1):c.1234C>T (p.Arg412Trp) single nucleotide variant not provided [RCV002581779] Chr7:140015730 [GRCh38]
Chr7:139715530 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1149C>A (p.Phe383Leu) single nucleotide variant Inborn genetic diseases [RCV002960256] Chr7:140007105 [GRCh38]
Chr7:139706905 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.819+5C>T single nucleotide variant not provided [RCV002806106] Chr7:139957769 [GRCh38]
Chr7:139657568 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.336G>A (p.Ala112=) single nucleotide variant not provided [RCV002649366] Chr7:139936193 [GRCh38]
Chr7:139635992 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.170C>G (p.Thr57Arg) single nucleotide variant not provided [RCV002746605] Chr7:139872315 [GRCh38]
Chr7:139572114 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.333+18C>T single nucleotide variant not provided [RCV002577830] Chr7:139911339 [GRCh38]
Chr7:139611138 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1227-20C>T single nucleotide variant not provided [RCV002671205] Chr7:140015703 [GRCh38]
Chr7:139715503 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.688+9G>A single nucleotide variant not provided [RCV002675612] Chr7:139955616 [GRCh38]
Chr7:139655415 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.814G>A (p.Glu272Lys) single nucleotide variant not provided [RCV003090413] Chr7:139957759 [GRCh38]
Chr7:139657558 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.937C>A (p.Pro313Thr) single nucleotide variant not provided [RCV002806282] Chr7:139962036 [GRCh38]
Chr7:139661835 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.509C>T (p.Ala170Val) single nucleotide variant Inborn genetic diseases [RCV002674554] Chr7:139953426 [GRCh38]
Chr7:139653225 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.688+8C>T single nucleotide variant not provided [RCV002716989] Chr7:139955615 [GRCh38]
Chr7:139655414 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1527+14G>T single nucleotide variant not provided [RCV002581229] Chr7:140017847 [GRCh38]
Chr7:139717647 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.932C>T (p.Pro311Leu) single nucleotide variant not provided [RCV002631053] Chr7:139962031 [GRCh38]
Chr7:139661830 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.236+42_236+60del microsatellite not provided [RCV002716764] Chr7:139875657..139875675 [GRCh38]
Chr7:139575456..139575474 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.448G>A (p.Glu150Lys) single nucleotide variant not provided [RCV002600344] Chr7:139936305 [GRCh38]
Chr7:139636104 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.334-18C>T single nucleotide variant not provided [RCV002600398] Chr7:139936173 [GRCh38]
Chr7:139635972 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.584T>C (p.Phe195Ser) single nucleotide variant not provided [RCV002963430] Chr7:139955503 [GRCh38]
Chr7:139655302 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1422C>G (p.Ala474=) single nucleotide variant not provided [RCV002628695] Chr7:140017728 [GRCh38]
Chr7:139717528 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.450G>A (p.Glu150=) single nucleotide variant not provided [RCV002631859] Chr7:139936307 [GRCh38]
Chr7:139636106 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1227-17C>T single nucleotide variant not provided [RCV002600239] Chr7:140015706 [GRCh38]
Chr7:139715506 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.464T>A (p.Ile155Asn) single nucleotide variant not provided [RCV002632687] Chr7:139953381 [GRCh38]
Chr7:139653180 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.382C>T (p.Arg128Cys) single nucleotide variant not provided [RCV002579414] Chr7:139936239 [GRCh38]
Chr7:139636038 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.990G>A (p.Glu330=) single nucleotide variant not provided [RCV002584353] Chr7:139962089 [GRCh38]
Chr7:139661888 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.357G>C (p.Ser119=) single nucleotide variant not provided [RCV003093256] Chr7:139936214 [GRCh38]
Chr7:139636013 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.933G>A (p.Pro311=) single nucleotide variant not provided [RCV002603483] Chr7:139962032 [GRCh38]
Chr7:139661831 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.589A>C (p.Thr197Pro) single nucleotide variant Inborn genetic diseases [RCV003170645]|not provided [RCV002942616] Chr7:139955508 [GRCh38]
Chr7:139655307 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1278C>T (p.Pro426=) single nucleotide variant TBXAS1-related condition [RCV003926725]|not provided [RCV002603094] Chr7:140015774 [GRCh38]
Chr7:139715574 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.823C>T (p.Arg275Trp) single nucleotide variant not provided [RCV003067480] Chr7:139961922 [GRCh38]
Chr7:139661721 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1527+20_1527+25dup duplication not provided [RCV002583069] Chr7:140017849..140017850 [GRCh38]
Chr7:139717649..139717650 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1112T>C (p.Val371Ala) single nucleotide variant not provided [RCV002942479] Chr7:139962211 [GRCh38]
Chr7:139662010 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.906C>T (p.Asp302=) single nucleotide variant not provided [RCV002607667] Chr7:139962005 [GRCh38]
Chr7:139661804 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1227-19G>C single nucleotide variant not provided [RCV002587192] Chr7:140015704 [GRCh38]
Chr7:139715504 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.31G>A (p.Val11Met) single nucleotide variant not provided [RCV002611365] Chr7:139829421 [GRCh38]
Chr7:139529220 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.785T>C (p.Val262Ala) single nucleotide variant not provided [RCV002635199] Chr7:139957730 [GRCh38]
Chr7:139657529 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.57C>T (p.Ala19=) single nucleotide variant not provided [RCV002609975] Chr7:139829447 [GRCh38]
Chr7:139529246 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.112A>G (p.Arg38Gly) single nucleotide variant not provided [RCV002588193] Chr7:139872257 [GRCh38]
Chr7:139572056 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.848T>C (p.Leu283Pro) single nucleotide variant not specified [RCV003155776] Chr7:139961947 [GRCh38]
Chr7:139661746 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3		 pathogenic
NM_001061.7(TBXAS1):c.1535T>C (p.Leu512Pro) single nucleotide variant Inborn genetic diseases [RCV003177858] Chr7:140020032 [GRCh38]
Chr7:139719832 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.824G>A (p.Arg275Gln) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV003140911] Chr7:139961923 [GRCh38]
Chr7:139661722 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.721C>T (p.Arg241Trp) single nucleotide variant Inborn genetic diseases [RCV003193800] Chr7:139957666 [GRCh38]
Chr7:139657465 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.101C>T (p.Ser34Leu) single nucleotide variant Inborn genetic diseases [RCV003373693] Chr7:139872246 [GRCh38]
Chr7:139572045 [GRCh37]
Chr7:7q34		 uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_001061.7(TBXAS1):c.1074C>T (p.Ala358=) single nucleotide variant not provided [RCV003570737] Chr7:139962173 [GRCh38]
Chr7:139661972 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.813C>G (p.Ala271=) single nucleotide variant not specified [RCV003479997] Chr7:139957758 [GRCh38]
Chr7:139657557 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.201A>C (p.Gln67His) single nucleotide variant Ghosal hematodiaphyseal dysplasia [RCV003444507] Chr7:139875602 [GRCh38]
Chr7:139575401 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.907G>A (p.Val303Ile) single nucleotide variant not provided [RCV003423774] Chr7:139962006 [GRCh38]
Chr7:139661805 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.1437C>T (p.Cys479=) single nucleotide variant not provided [RCV003578953] Chr7:140017743 [GRCh38]
Chr7:139717543 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1080C>T (p.Asn360=) single nucleotide variant not provided [RCV003693677] Chr7:139962179 [GRCh38]
Chr7:139661978 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.642G>A (p.Lys214=) single nucleotide variant not provided [RCV003572945] Chr7:139955561 [GRCh38]
Chr7:139655360 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.184-15C>T single nucleotide variant not provided [RCV003834123] Chr7:139875570 [GRCh38]
Chr7:139575369 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.366C>T (p.Asp122=) single nucleotide variant not provided [RCV003670436] Chr7:139936223 [GRCh38]
Chr7:139636022 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.236+8G>A single nucleotide variant not provided [RCV003561348] Chr7:139875645 [GRCh38]
Chr7:139575444 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1226+14C>G single nucleotide variant not provided [RCV003673026] Chr7:140007196 [GRCh38]
Chr7:139706996 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1440C>T (p.Leu480=) single nucleotide variant not provided [RCV003706286] Chr7:140017746 [GRCh38]
Chr7:139717546 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.943del (p.Arg315fs) deletion not provided [RCV003820751] Chr7:139962040 [GRCh38]
Chr7:139661839 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.1344G>A (p.Pro448=) single nucleotide variant not provided [RCV003820235] Chr7:140015840 [GRCh38]
Chr7:139715640 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.950_951del (p.His317fs) microsatellite not provided [RCV003731035] Chr7:139962047..139962048 [GRCh38]
Chr7:139661846..139661847 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.396G>A (p.Trp132Ter) single nucleotide variant not provided [RCV003867209] Chr7:139936253 [GRCh38]
Chr7:139636052 [GRCh37]
Chr7:7q34		 pathogenic
NM_001061.7(TBXAS1):c.333+15T>A single nucleotide variant not provided [RCV003685828] Chr7:139911336 [GRCh38]
Chr7:139611135 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.333+8_333+13del deletion not provided [RCV003685827] Chr7:139911329..139911334 [GRCh38]
Chr7:139611128..139611133 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.540-12C>T single nucleotide variant not provided [RCV003869612] Chr7:139955447 [GRCh38]
Chr7:139655246 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.597G>A (p.Val199=) single nucleotide variant not provided [RCV003556630] Chr7:139955516 [GRCh38]
Chr7:139655315 [GRCh37]
Chr7:7q34		 likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3		 pathogenic
NM_001061.7(TBXAS1):c.333+19_333+20insGAAAG insertion not provided [RCV003685830] Chr7:139911339..139911340 [GRCh38]
Chr7:139611138..139611139 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.333+17C>G single nucleotide variant not provided [RCV003685829] Chr7:139911338 [GRCh38]
Chr7:139611137 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.236+33C>T single nucleotide variant TBXAS1-related condition [RCV003939696] Chr7:139875670 [GRCh38]
Chr7:139575469 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.522C>T (p.Asp174=) single nucleotide variant not provided [RCV003719730] Chr7:139953439 [GRCh38]
Chr7:139653238 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1416C>T (p.Phe472=) single nucleotide variant not provided [RCV003865766] Chr7:140017722 [GRCh38]
Chr7:139717522 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1534C>T (p.Leu512=) single nucleotide variant not provided [RCV003848694] Chr7:140020031 [GRCh38]
Chr7:139719831 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.688+10G>A single nucleotide variant not provided [RCV003844194] Chr7:139955617 [GRCh38]
Chr7:139655416 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.1430G>A (p.Arg477Gln) single nucleotide variant not provided [RCV003729409] Chr7:140017736 [GRCh38]
Chr7:139717536 [GRCh37]
Chr7:7q34		 uncertain significance
NM_001061.7(TBXAS1):c.450+16T>C single nucleotide variant not provided [RCV003706305] Chr7:139936323 [GRCh38]
Chr7:139636122 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.334-20_334-19insA insertion not provided [RCV003563994] Chr7:139936171..139936172 [GRCh38]
Chr7:139635970..139635971 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.666C>T (p.Pro222=) single nucleotide variant not provided [RCV003710934] Chr7:139955585 [GRCh38]
Chr7:139655384 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.688+2T>G single nucleotide variant not provided [RCV003844922] Chr7:139955609 [GRCh38]
Chr7:139655408 [GRCh37]
Chr7:7q34		 likely pathogenic
NM_001061.7(TBXAS1):c.333+1811G>A single nucleotide variant TBXAS1-related condition [RCV003929571] Chr7:139913132 [GRCh38]
Chr7:139612931 [GRCh37]
Chr7:7q34		 likely benign
NM_001061.7(TBXAS1):c.689-7T>C single nucleotide variant TBXAS1-related condition [RCV003974294] Chr7:139957627 [GRCh38]
Chr7:139657426 [GRCh37]
Chr7:7q34		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4911
Count of miRNA genes:1131
Interacting mature miRNAs:1407
Transcripts:ENST00000263552, ENST00000336425, ENST00000411653, ENST00000414041, ENST00000414508, ENST00000416849, ENST00000422328, ENST00000425687, ENST00000436047, ENST00000438104, ENST00000448866, ENST00000455353, ENST00000458722, ENST00000462053, ENST00000462275, ENST00000469630, ENST00000473948, ENST00000474763, ENST00000476637, ENST00000481440, ENST00000492560, ENST00000493340, ENST00000494876, ENST00000539806
Prediction methods:Microtar, Miranda, 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.

Markers in Region
GDB:1234290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,621,544 - 139,621,688UniSTSGRCh37
Build 367139,268,013 - 139,268,157RGDNCBI36
Celera7134,343,579 - 134,343,723RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,915,697 - 133,915,841UniSTS
CRA_TCAGchr7v27138,950,486 - 138,950,630UniSTS
G31117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,661,810 - 139,661,945UniSTSGRCh37
Build 367139,308,279 - 139,308,414RGDNCBI36
Celera7134,383,661 - 134,383,796RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,955,657 - 133,955,792UniSTS
CRA_TCAGchr7v27138,990,662 - 138,990,797UniSTS
GDB:3755023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,674,932 - 139,675,053UniSTSGRCh37
Build 367139,321,401 - 139,321,522RGDNCBI36
Celera7134,396,777 - 134,396,898RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,968,774 - 133,968,895UniSTS
CRA_TCAGchr7v27139,003,778 - 139,003,899UniSTS
RH121143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,615,688 - 139,616,001UniSTSGRCh37
Build 367139,262,157 - 139,262,470RGDNCBI36
Celera7134,337,723 - 134,338,036RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,909,841 - 133,910,154UniSTS
CRA_TCAGchr7v27138,944,630 - 138,944,943UniSTS
TNG Radiation Hybrid Map78742.0UniSTS
G59443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,530,646 - 139,530,878UniSTSGRCh37
Build 367139,177,115 - 139,177,347RGDNCBI36
Celera7134,252,680 - 134,252,912RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,824,830 - 133,825,062UniSTS
CRA_TCAGchr7v27138,859,584 - 138,859,816UniSTS
GDB:4585705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,670,330 - 139,670,459UniSTSGRCh37
Build 367139,316,799 - 139,316,928RGDNCBI36
Celera7134,392,175 - 134,392,304RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,964,172 - 133,964,301UniSTS
CRA_TCAGchr7v27138,999,176 - 138,999,305UniSTS
D7S2734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,719,937 - 139,720,032UniSTSGRCh37
Build 367139,366,406 - 139,366,501RGDNCBI36
Celera7134,441,782 - 134,441,877RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7134,013,756 - 134,013,851UniSTS
CRA_TCAGchr7v27139,048,776 - 139,048,871UniSTS
TNG Radiation Hybrid Map762971.0UniSTS
GeneMap99-G3 RH Map76081.0UniSTS
GDB:3755104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,605,602 - 139,605,721UniSTSGRCh37
Build 367139,252,071 - 139,252,190RGDNCBI36
Celera7134,327,638 - 134,327,757RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,899,756 - 133,899,875UniSTS
CRA_TCAGchr7v27138,934,545 - 138,934,664UniSTS
GDB:1234284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,621,702 - 139,621,839UniSTSGRCh37
Build 367139,268,171 - 139,268,308RGDNCBI36
Celera7134,343,737 - 134,343,874RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,915,855 - 133,915,992UniSTS
CRA_TCAGchr7v27138,950,644 - 138,950,781UniSTS
TBXAS1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,657,377 - 139,657,501UniSTSGRCh37
Build 367139,303,846 - 139,303,970RGDNCBI36
Celera7134,379,232 - 134,379,356RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,951,228 - 133,951,352UniSTS
CRA_TCAGchr7v27138,986,233 - 138,986,357UniSTS
D7S2000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,712,168 - 139,712,235UniSTSGRCh37
Build 367139,358,637 - 139,358,704RGDNCBI36
Celera7134,434,004 - 134,434,071RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7134,005,993 - 134,006,060UniSTS
CRA_TCAGchr7v27139,041,009 - 139,041,076UniSTS
D7S1986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,659,240 - 139,659,306UniSTSGRCh37
Build 367139,305,709 - 139,305,775RGDNCBI36
Celera7134,381,091 - 134,381,157RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,953,087 - 133,953,153UniSTS
CRA_TCAGchr7v27138,988,092 - 138,988,158UniSTS
GDB:1318585  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,538,014 - 139,538,161UniSTSGRCh37
Build 367139,184,483 - 139,184,630RGDNCBI36
Celera7134,260,048 - 134,260,195RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,832,194 - 133,832,341UniSTS
CRA_TCAGchr7v27138,866,952 - 138,867,099UniSTS
GDB:4585667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,520,724 - 139,520,863UniSTSGRCh37
Build 367139,167,193 - 139,167,332RGDNCBI36
Celera7134,242,758 - 134,242,897RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,814,908 - 133,815,047UniSTS
CRA_TCAGchr7v27138,849,662 - 138,849,801UniSTS
STS-T50718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,661,749 - 139,661,934UniSTSGRCh37
Build 367139,308,218 - 139,308,403RGDNCBI36
Celera7134,383,600 - 134,383,785RGD
Cytogenetic Map7q34-q35UniSTS
HuRef7133,955,596 - 133,955,781UniSTS
CRA_TCAGchr7v27138,990,601 - 138,990,786UniSTS
GeneMap99-GB4 RH Map7640.66UniSTS
G54648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377139,530,645 - 139,530,893UniSTSGRCh37
Celera7134,252,679 - 134,252,927UniSTS
Cytogenetic Map7q34-q35UniSTS
HuRef7133,824,829 - 133,825,077UniSTS
CRA_TCAGchr7v27138,859,583 - 138,859,831UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 141 844 30 38 1223 12 156 12 116 110 87 545 27 213 38 1
Low 2236 1915 1657 555 642 421 3230 1429 3082 296 1252 1006 145 1 991 2041 3 2
Below cutoff 53 232 39 31 57 32 970 755 535 11 108 53 2 709

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_159365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG326666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM673654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD367977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D34625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC315339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF573672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000336425   ⟹   ENSP00000338087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,400 - 140,020,293 (+)Ensembl
RefSeq Acc Id: ENST00000411653   ⟹   ENSP00000411326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,264 - 140,020,325 (+)Ensembl
RefSeq Acc Id: ENST00000414041   ⟹   ENSP00000412710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,302 - 139,936,235 (+)Ensembl
RefSeq Acc Id: ENST00000416849   ⟹   ENSP00000389414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,248 - 140,020,323 (+)Ensembl
RefSeq Acc Id: ENST00000422328   ⟹   ENSP00000415892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,247 - 140,020,291 (+)Ensembl
RefSeq Acc Id: ENST00000425687   ⟹   ENSP00000388736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,248 - 140,020,289 (+)Ensembl
RefSeq Acc Id: ENST00000438104   ⟹   ENSP00000388612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,338 - 139,936,307 (+)Ensembl
RefSeq Acc Id: ENST00000448866   ⟹   ENSP00000402536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,264 - 140,020,293 (+)Ensembl
RefSeq Acc Id: ENST00000455353   ⟹   ENSP00000391567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,254 - 139,914,029 (+)Ensembl
RefSeq Acc Id: ENST00000458722   ⟹   ENSP00000411274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,254 - 140,020,279 (+)Ensembl
RefSeq Acc Id: ENST00000462053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,777,147 - 139,797,484 (+)Ensembl
RefSeq Acc Id: ENST00000462275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,273 - 140,016,829 (+)Ensembl
RefSeq Acc Id: ENST00000469630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,953,435 - 139,963,051 (+)Ensembl
RefSeq Acc Id: ENST00000473948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,136 - 139,782,729 (+)Ensembl
RefSeq Acc Id: ENST00000474763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,254 - 139,797,484 (+)Ensembl
RefSeq Acc Id: ENST00000476637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,271 - 139,953,517 (+)Ensembl
RefSeq Acc Id: ENST00000481440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,256 - 139,797,483 (+)Ensembl
RefSeq Acc Id: ENST00000492560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,249 - 139,875,892 (+)Ensembl
RefSeq Acc Id: ENST00000493340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,777,051 - 139,789,622 (+)Ensembl
RefSeq Acc Id: ENST00000494876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,957,581 - 139,962,236 (+)Ensembl
RefSeq Acc Id: ENST00000650822   ⟹   ENSP00000498517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,778,248 - 140,020,323 (+)Ensembl
RefSeq Acc Id: ENST00000652056   ⟹   ENSP00000498271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7139,829,153 - 140,020,323 (+)Ensembl
RefSeq Acc Id: NM_001061   ⟹   NP_001052
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,020,293 (+)NCBI
GRCh377139,478,047 - 139,720,125 (+)ENTREZGENE
Build 367139,175,421 - 139,366,471 (+)NCBI Archive
HuRef7133,772,488 - 134,013,944 (+)ENTREZGENE
CHM1_17139,463,474 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,333,885 (+)NCBI
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001130966   ⟹   NP_001124438
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 140,020,293 (+)NCBI
GRCh377139,478,047 - 139,720,125 (+)ENTREZGENE
HuRef7133,772,488 - 134,013,944 (+)ENTREZGENE
CHM1_17139,412,286 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,091,534 - 141,333,885 (+)NCBI
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001166253   ⟹   NP_001159725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,020,293 (+)NCBI
GRCh377139,478,047 - 139,720,125 (+)ENTREZGENE
HuRef7133,772,488 - 134,013,944 (+)ENTREZGENE
CHM1_17139,463,474 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,333,885 (+)NCBI
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001166254   ⟹   NP_001159726
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 140,020,293 (+)NCBI
GRCh377139,478,047 - 139,720,125 (+)ENTREZGENE
HuRef7133,772,488 - 134,013,944 (+)ENTREZGENE
CHM1_17139,412,286 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,091,534 - 141,333,885 (+)NCBI
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001314028   ⟹   NP_001300957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,020,293 (+)NCBI
CHM1_17139,463,474 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,333,885 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366537   ⟹   NP_001353466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,020,293 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,333,885 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001366538   ⟹   NP_001353467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 139,914,029 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,227,239 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030984   ⟹   NP_112246
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,020,293 (+)NCBI
GRCh377139,478,047 - 139,720,125 (+)ENTREZGENE
Build 367139,175,421 - 139,366,471 (+)NCBI Archive
HuRef7133,772,488 - 134,013,944 (+)ENTREZGENE
CHM1_17139,463,474 - 139,654,615 (+)NCBI
T2T-CHM13v2.07141,142,557 - 141,333,885 (+)NCBI
CRA_TCAGchr7v27138,807,008 - 139,048,964 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_159363
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 139,797,486 (+)NCBI
T2T-CHM13v2.07141,091,534 - 141,110,788 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159364
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 139,797,486 (+)NCBI
T2T-CHM13v2.07141,091,534 - 141,110,788 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159365
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 139,797,486 (+)NCBI
T2T-CHM13v2.07141,091,534 - 141,110,788 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516544   ⟹   XP_011514846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 140,017,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358905   ⟹   XP_054214880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07141,142,557 - 141,331,425 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001052 (Get FASTA)   NCBI Sequence Viewer  
  NP_001124438 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159725 (Get FASTA)   NCBI Sequence Viewer  
  NP_001159726 (Get FASTA)   NCBI Sequence Viewer  
  NP_001300957 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353466 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353467 (Get FASTA)   NCBI Sequence Viewer  
  NP_112246 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514846 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214880 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36742 (Get FASTA)   NCBI Sequence Viewer  
  AAA60617 (Get FASTA)   NCBI Sequence Viewer  
  AAA60618 (Get FASTA)   NCBI Sequence Viewer  
  AAC01761 (Get FASTA)   NCBI Sequence Viewer  
  AAD21788 (Get FASTA)   NCBI Sequence Viewer  
  AAF99269 (Get FASTA)   NCBI Sequence Viewer  
  AAF99270 (Get FASTA)   NCBI Sequence Viewer  
  AAF99271 (Get FASTA)   NCBI Sequence Viewer  
  AAF99272 (Get FASTA)   NCBI Sequence Viewer  
  AAF99273 (Get FASTA)   NCBI Sequence Viewer  
  AAF99274 (Get FASTA)   NCBI Sequence Viewer  
  AAF99275 (Get FASTA)   NCBI Sequence Viewer  
  AAF99276 (Get FASTA)   NCBI Sequence Viewer  
  AAF99277 (Get FASTA)   NCBI Sequence Viewer  
  AAF99278 (Get FASTA)   NCBI Sequence Viewer  
  AAF99279 (Get FASTA)   NCBI Sequence Viewer  
  AAH14117 (Get FASTA)   NCBI Sequence Viewer  
  AAH41157 (Get FASTA)   NCBI Sequence Viewer  
  AAP21887 (Get FASTA)   NCBI Sequence Viewer  
  BAA07011 (Get FASTA)   NCBI Sequence Viewer  
  BAD97186 (Get FASTA)   NCBI Sequence Viewer  
  BAG58828 (Get FASTA)   NCBI Sequence Viewer  
  BAG62753 (Get FASTA)   NCBI Sequence Viewer  
  BAG64487 (Get FASTA)   NCBI Sequence Viewer  
  BAH13397 (Get FASTA)   NCBI Sequence Viewer  
  EAW83934 (Get FASTA)   NCBI Sequence Viewer  
  EAW83935 (Get FASTA)   NCBI Sequence Viewer  
  EAW83936 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338087
  ENSP00000338087.7
  ENSP00000388612.3
  ENSP00000388736
  ENSP00000388736.1
  ENSP00000391567
  ENSP00000391567.3
  ENSP00000402536
  ENSP00000402536.3
  ENSP00000411274
  ENSP00000411274.3
  ENSP00000411326
  ENSP00000411326.3
  ENSP00000412710.3
  ENSP00000415892.3
GenBank Protein P24557 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001124438   ⟸   NM_001130966
- Peptide Label: isoform 1
- UniProtKB: Q9HD83 (UniProtKB/Swiss-Prot),   Q9HD82 (UniProtKB/Swiss-Prot),   Q9HD81 (UniProtKB/Swiss-Prot),   Q9HD80 (UniProtKB/Swiss-Prot),   Q9HD79 (UniProtKB/Swiss-Prot),   Q9HD78 (UniProtKB/Swiss-Prot),   Q9HD77 (UniProtKB/Swiss-Prot),   Q9GZW4 (UniProtKB/Swiss-Prot),   Q96CN2 (UniProtKB/Swiss-Prot),   Q8IUN1 (UniProtKB/Swiss-Prot),   Q16844 (UniProtKB/Swiss-Prot),   Q16843 (UniProtKB/Swiss-Prot),   P24557 (UniProtKB/Swiss-Prot),   O14987 (UniProtKB/Swiss-Prot),   E7ESB5 (UniProtKB/Swiss-Prot),   E7EP08 (UniProtKB/Swiss-Prot),   E7EMU9 (UniProtKB/Swiss-Prot),   B4DJG6 (UniProtKB/Swiss-Prot),   Q9HD84 (UniProtKB/Swiss-Prot),   Q53F23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159726   ⟸   NM_001166254
- Peptide Label: isoform 4
- UniProtKB: Q53F23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159725   ⟸   NM_001166253
- Peptide Label: isoform 3
- UniProtKB: Q53F23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001052   ⟸   NM_001061
- Peptide Label: isoform 1
- UniProtKB: Q9HD83 (UniProtKB/Swiss-Prot),   Q9HD82 (UniProtKB/Swiss-Prot),   Q9HD81 (UniProtKB/Swiss-Prot),   Q9HD80 (UniProtKB/Swiss-Prot),   Q9HD79 (UniProtKB/Swiss-Prot),   Q9HD78 (UniProtKB/Swiss-Prot),   Q9HD77 (UniProtKB/Swiss-Prot),   Q9GZW4 (UniProtKB/Swiss-Prot),   Q96CN2 (UniProtKB/Swiss-Prot),   Q8IUN1 (UniProtKB/Swiss-Prot),   Q16844 (UniProtKB/Swiss-Prot),   Q16843 (UniProtKB/Swiss-Prot),   P24557 (UniProtKB/Swiss-Prot),   O14987 (UniProtKB/Swiss-Prot),   E7ESB5 (UniProtKB/Swiss-Prot),   E7EP08 (UniProtKB/Swiss-Prot),   E7EMU9 (UniProtKB/Swiss-Prot),   B4DJG6 (UniProtKB/Swiss-Prot),   Q9HD84 (UniProtKB/Swiss-Prot),   Q53F23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_112246   ⟸   NM_030984
- Peptide Label: isoform 2
- UniProtKB: B4E0M5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011514846   ⟸   XM_011516544
- Peptide Label: isoform X1
- UniProtKB: B4E0M5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300957   ⟸   NM_001314028
- Peptide Label: isoform 5
- UniProtKB: B4DVP1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353466   ⟸   NM_001366537
- Peptide Label: isoform 6
- UniProtKB: B4DVP1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353467   ⟸   NM_001366538
- Peptide Label: isoform 7
- UniProtKB: A0A498U6I9 (UniProtKB/TrEMBL),   B7Z6W1 (UniProtKB/TrEMBL),   E7EP75 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000388612   ⟸   ENST00000438104
RefSeq Acc Id: ENSP00000388736   ⟸   ENST00000425687
RefSeq Acc Id: ENSP00000411326   ⟸   ENST00000411653
RefSeq Acc Id: ENSP00000412710   ⟸   ENST00000414041
RefSeq Acc Id: ENSP00000338087   ⟸   ENST00000336425
RefSeq Acc Id: ENSP00000498517   ⟸   ENST00000650822
RefSeq Acc Id: ENSP00000391567   ⟸   ENST00000455353
RefSeq Acc Id: ENSP00000389414   ⟸   ENST00000416849
RefSeq Acc Id: ENSP00000498271   ⟸   ENST00000652056
RefSeq Acc Id: ENSP00000411274   ⟸   ENST00000458722
RefSeq Acc Id: ENSP00000402536   ⟸   ENST00000448866
RefSeq Acc Id: ENSP00000415892   ⟸   ENST00000422328
RefSeq Acc Id: XP_054214880   ⟸   XM_054358905
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24557-F1-model_v2 AlphaFold P24557 1-533 view protein structure

Promoters
RGD ID:6806261
Promoter ID:HG_KWN:59938
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001061,   NM_001166253,   NR_029394,   OTTHUMT00000348377,   OTTHUMT00000348379,   OTTHUMT00000348380,   OTTHUMT00000348384,   OTTHUMT00000348385,   OTTHUMT00000348386
Position:
Human AssemblyChrPosition (strand)Source
Build 367139,175,389 - 139,175,889 (+)MPROMDB
RGD ID:7212085
Promoter ID:EPDNEW_H11788
Type:initiation region
Name:TBXAS1_3
Description:thromboxane A synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11792  EPDNEW_H11790  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,777,051 - 139,777,111EPDNEW
RGD ID:7212095
Promoter ID:EPDNEW_H11790
Type:initiation region
Name:TBXAS1_2
Description:thromboxane A synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11788  EPDNEW_H11792  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,778,242 - 139,778,302EPDNEW
RGD ID:7212091
Promoter ID:EPDNEW_H11792
Type:initiation region
Name:TBXAS1_1
Description:thromboxane A synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11788  EPDNEW_H11790  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387139,829,264 - 139,829,324EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11609 AgrOrtholog
COSMIC TBXAS1 COSMIC
Ensembl Genes ENSG00000059377 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336425 ENTREZGENE
  ENST00000336425.10 UniProtKB/Swiss-Prot
  ENST00000411653 ENTREZGENE
  ENST00000411653.6 UniProtKB/Swiss-Prot
  ENST00000414041.2 UniProtKB/TrEMBL
  ENST00000422328.6 UniProtKB/TrEMBL
  ENST00000425687 ENTREZGENE
  ENST00000425687.5 UniProtKB/Swiss-Prot
  ENST00000438104.6 UniProtKB/TrEMBL
  ENST00000448866 ENTREZGENE
  ENST00000448866.7 UniProtKB/Swiss-Prot
  ENST00000455353 ENTREZGENE
  ENST00000455353.6 UniProtKB/TrEMBL
  ENST00000458722 ENTREZGENE
  ENST00000458722.6 UniProtKB/Swiss-Prot
  ENST00000474763 ENTREZGENE
  ENST00000481440 ENTREZGENE
Gene3D-CATH 1.10.630.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000059377 GTEx
HGNC ID HGNC:11609 ENTREZGENE
Human Proteome Map TBXAS1 Human Proteome Map
InterPro Cyt_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_P450_E_grp-II UniProtKB/TrEMBL
  Cyt_P450_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6916 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6916 ENTREZGENE
OMIM 274180 OMIM
PANTHER THROMBOXANE-A SYNTHASE UniProtKB/Swiss-Prot
  THROMBOXANE-A SYNTHASE UniProtKB/Swiss-Prot
  THROMBOXANE-A SYNTHASE UniProtKB/TrEMBL
  THROMBOXANE-A SYNTHASE UniProtKB/TrEMBL
Pfam p450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA349 PharmGKB, RGD
PRINTS EP450I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EP450II UniProtKB/TrEMBL
  P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CYTOCHROME_P450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48264 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A498U6I9 ENTREZGENE, UniProtKB/TrEMBL
  B4DJG6 ENTREZGENE
  B4DVP1 ENTREZGENE, UniProtKB/TrEMBL
  B4E0M5 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6W1 ENTREZGENE, UniProtKB/TrEMBL
  C9JS68_HUMAN UniProtKB/TrEMBL
  E7EMU9 ENTREZGENE
  E7EP08 ENTREZGENE
  E7EP75 ENTREZGENE
  E7ESB5 ENTREZGENE
  F8WC80_HUMAN UniProtKB/TrEMBL
  F8WD37_HUMAN UniProtKB/TrEMBL
  O14987 ENTREZGENE
  P24557 ENTREZGENE
  Q16843 ENTREZGENE
  Q16844 ENTREZGENE
  Q53F23 ENTREZGENE, UniProtKB/TrEMBL
  Q86UL7_HUMAN UniProtKB/TrEMBL
  Q8IUN1 ENTREZGENE
  Q96CN2 ENTREZGENE
  Q9GZW4 ENTREZGENE
  Q9HD77 ENTREZGENE
  Q9HD78 ENTREZGENE
  Q9HD79 ENTREZGENE
  Q9HD80 ENTREZGENE
  Q9HD81 ENTREZGENE
  Q9HD82 ENTREZGENE
  Q9HD83 ENTREZGENE
  Q9HD84 ENTREZGENE
  Q9UDV3_HUMAN UniProtKB/TrEMBL
  THAS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DJG6 UniProtKB/Swiss-Prot
  E7EMU9 UniProtKB/Swiss-Prot
  E7EP08 UniProtKB/Swiss-Prot
  E7EP75 UniProtKB/TrEMBL
  E7ESB5 UniProtKB/Swiss-Prot
  O14987 UniProtKB/Swiss-Prot
  Q16843 UniProtKB/Swiss-Prot
  Q16844 UniProtKB/Swiss-Prot
  Q8IUN1 UniProtKB/Swiss-Prot
  Q96CN2 UniProtKB/Swiss-Prot
  Q9GZW4 UniProtKB/Swiss-Prot
  Q9HD77 UniProtKB/Swiss-Prot
  Q9HD78 UniProtKB/Swiss-Prot
  Q9HD79 UniProtKB/Swiss-Prot
  Q9HD80 UniProtKB/Swiss-Prot
  Q9HD81 UniProtKB/Swiss-Prot
  Q9HD82 UniProtKB/Swiss-Prot
  Q9HD83 UniProtKB/Swiss-Prot
  Q9HD84 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 TBXAS1  thromboxane A synthase 1  TBXAS1  thromboxane A synthase 1 (platelet)  Symbol and/or name change 5135510 APPROVED