TGFBI (transforming growth factor beta induced) - Rat Genome Database

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Gene: TGFBI (transforming growth factor beta induced) Homo sapiens
Analyze
Symbol: TGFBI
Name: transforming growth factor beta induced
RGD ID: 1351420
HGNC Page HGNC:11771
Description: Enables collagen binding activity and identical protein binding activity. Involved in angiogenesis. Located in extracellular space and trans-Golgi network. Implicated in corneal dystrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta ig-h3; betaig-h3; BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; kerato-epithelin; LCD1; RGD-CAP; RGD-containing collagen-associated protein; transforming growth factor beta-induced 68kDa; transforming growth factor, beta-induced, 68kD; transforming growth factor, beta-induced, 68kDa; transforming growth factor-beta-induced protein ig-h3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385136,028,988 - 136,063,818 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5136,028,988 - 136,063,818 (+)EnsemblGRCh38hg38GRCh38
GRCh375135,364,677 - 135,399,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365135,392,597 - 135,427,406 (+)NCBINCBI36Build 36hg18NCBI36
Build 345135,392,596 - 135,427,406NCBI
Celera5131,489,316 - 131,524,237 (+)NCBICelera
Cytogenetic Map5q31.1NCBI
HuRef5130,553,034 - 130,587,955 (+)NCBIHuRef
CHM1_15134,797,217 - 134,832,140 (+)NCBICHM1_1
T2T-CHM13v2.05136,551,486 - 136,586,315 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-dichloroaniline  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
asbestos  (EXP)
azoxystrobin  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
clothianidin  (EXP)
clotrimazole  (ISO)
cobalt dichloride  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dabrafenib  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dicyclanil  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
endosulfan  (ISO)
eplerenone  (ISO)
epoxiconazole  (ISO)
ferric oxide  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
graphene oxide  (EXP)
GW 4064  (ISO)
imidacloprid  (ISO)
inulin  (ISO)
irinotecan  (EXP)
L-ethionine  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP,ISO)
methimazole  (ISO)
methotrexate  (EXP)
mitomycin C  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (ISO)
nimesulide  (ISO)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
p-tert-Amylphenol  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP)
tauroursodeoxycholic acid  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of TGF-beta-induced matrix protein betaig-h3 is up-regulated in the diabetic rat kidney and human proximal tubular epithelial cells treated with high glucose. Lee SH, etal., Kidney Int 2003 Sep;64(3):1012-21.
3. Inhibitory effect of pravastatin on transforming growth factor beta1-inducible gene h3 expression in a rat model of chronic cyclosporine nephropathy. Li C, etal., Am J Nephrol. 2005 Nov-Dec;25(6):611-20. Epub 2005 Nov 22.
4. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Munier FL, etal., Nat Genet. 1997 Mar;15(3):247-51.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Expression of transforming growth factor-beta-inducible gene-h3 in normal and cyclosporine-treated rat kidney. Sun BK, etal., J Lab Clin Med 2004 Mar;143(3):175-83.
Additional References at PubMed
PMID:1388724   PMID:7738366   PMID:8024701   PMID:8077289   PMID:8125298   PMID:8136834   PMID:9061001   PMID:9463327   PMID:9497262   PMID:9727509   PMID:9780098   PMID:9799082  
PMID:10328397   PMID:10425035   PMID:10660331   PMID:10681572   PMID:10837380   PMID:10865320   PMID:10913330   PMID:10967553   PMID:11024425   PMID:11297504   PMID:11413411   PMID:11501939  
PMID:11685063   PMID:11741113   PMID:11866539   PMID:11867580   PMID:11923233   PMID:11927442   PMID:12034705   PMID:12270930   PMID:12379307   PMID:12386809   PMID:12400061   PMID:12454095  
PMID:12477932   PMID:12499048   PMID:12586172   PMID:12673209   PMID:12704192   PMID:12719415   PMID:12782158   PMID:12940514   PMID:14597039   PMID:14701952   PMID:14702039   PMID:14767644  
PMID:14767905   PMID:15013897   PMID:15059726   PMID:15111592   PMID:15177960   PMID:15179309   PMID:15223229   PMID:15302666   PMID:15372022   PMID:15489334   PMID:15531312   PMID:15564760  
PMID:15623763   PMID:15712349   PMID:15780949   PMID:15790870   PMID:15805105   PMID:15838722   PMID:15885785   PMID:16087849   PMID:16329070   PMID:16329146   PMID:16344560   PMID:16368891  
PMID:16434404   PMID:16440005   PMID:16453189   PMID:16541014   PMID:16636649   PMID:16652336   PMID:16670477   PMID:16672769   PMID:16767671   PMID:16797290   PMID:16900028   PMID:16947382  
PMID:17013691   PMID:17317389   PMID:17327467   PMID:17378698   PMID:17653042   PMID:17765440   PMID:17846354   PMID:17893671   PMID:17909299   PMID:17980739   PMID:17982418   PMID:17982422  
PMID:18068629   PMID:18078741   PMID:18083624   PMID:18097563   PMID:18245446   PMID:18249103   PMID:18259096   PMID:18290950   PMID:18298822   PMID:18332318   PMID:18354229   PMID:18359287  
PMID:18425347   PMID:18427622   PMID:18465714   PMID:18470323   PMID:18560760   PMID:18568131   PMID:18615206   PMID:18636123   PMID:18728790   PMID:18752451   PMID:19001012   PMID:19019446  
PMID:19145249   PMID:19199708   PMID:19255489   PMID:19303004   PMID:19433713   PMID:19461933   PMID:19478074   PMID:19505574   PMID:19822856   PMID:19913121   PMID:19948560   PMID:19956413  
PMID:20161820   PMID:20360992   PMID:20419098   PMID:20421128   PMID:20458218   PMID:20551380   PMID:20628086   PMID:20664689   PMID:20680100   PMID:20697279   PMID:20724852   PMID:20806046  
PMID:20863486   PMID:20931522   PMID:21135107   PMID:21191728   PMID:21362503   PMID:21371477   PMID:21395558   PMID:21554857   PMID:21561707   PMID:21617751   PMID:21720722   PMID:21835759  
PMID:21873635   PMID:21899585   PMID:21921985   PMID:22056868   PMID:22155582   PMID:22159598   PMID:22194646   PMID:22234156   PMID:22248469   PMID:22261194   PMID:22326753   PMID:22374302  
PMID:22575305   PMID:22575726   PMID:22626996   PMID:22629380   PMID:22640878   PMID:22710795   PMID:22746317   PMID:22815629   PMID:22850414   PMID:22876129   PMID:22995918   PMID:23019342  
PMID:23559853   PMID:23592924   PMID:23735324   PMID:23861389   PMID:23884333   PMID:23979707   PMID:24129074   PMID:24152593   PMID:24302499   PMID:24368280   PMID:24425855   PMID:24473223  
PMID:24483146   PMID:24499734   PMID:24505203   PMID:24506343   PMID:24530597   PMID:24582869   PMID:24595049   PMID:24639195   PMID:24662304   PMID:24728038   PMID:24801599   PMID:24988946  
PMID:25037231   PMID:25055147   PMID:25321938   PMID:25369402   PMID:25378215   PMID:25416956   PMID:25448803   PMID:25740786   PMID:25755764   PMID:25772247   PMID:25785536   PMID:25786978  
PMID:25808355   PMID:25853243   PMID:25864756   PMID:25889002   PMID:26084452   PMID:26288337   PMID:26464103   PMID:26503734   PMID:26553048   PMID:26604660   PMID:26864644   PMID:26871637  
PMID:26915797   PMID:27028151   PMID:27068509   PMID:27163623   PMID:27402970   PMID:27559042   PMID:27829782   PMID:28060069   PMID:28261610   PMID:28292713   PMID:28327460   PMID:28534376  
PMID:28675934   PMID:28750100   PMID:28811384   PMID:28952225   PMID:28988748   PMID:29140698   PMID:29190493   PMID:29192679   PMID:29524512   PMID:30048528   PMID:30084753   PMID:30156359  
PMID:30260476   PMID:30298492   PMID:30672027   PMID:30726660   PMID:30753226   PMID:30809309   PMID:30871369   PMID:31056827   PMID:31188414   PMID:31197037   PMID:31277676   PMID:31324722  
PMID:31514337   PMID:31560077   PMID:31836123   PMID:31922278   PMID:32189173   PMID:32200838   PMID:32281291   PMID:32296183   PMID:32366062   PMID:32406866   PMID:32871844   PMID:32880217  
PMID:32937590   PMID:33039949   PMID:33080107   PMID:33138797   PMID:33407479   PMID:33408771   PMID:33772078   PMID:33845483   PMID:33940163   PMID:33961781   PMID:34012230   PMID:34097874  
PMID:34315543   PMID:34561272   PMID:34686725   PMID:34792732   PMID:34937214   PMID:35357655   PMID:35473478   PMID:35545686   PMID:35673564   PMID:35696571   PMID:36397358   PMID:36527092  
PMID:36796020   PMID:36994729   PMID:37187159   PMID:37567434   PMID:37806183   PMID:37865162   PMID:37960829   PMID:38365849   PMID:38395907   PMID:38577561   PMID:38596938   PMID:38777146  
PMID:38849015   PMID:38945485   PMID:39238192  


Genomics

Comparative Map Data
TGFBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385136,028,988 - 136,063,818 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5136,028,988 - 136,063,818 (+)EnsemblGRCh38hg38GRCh38
GRCh375135,364,677 - 135,399,507 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365135,392,597 - 135,427,406 (+)NCBINCBI36Build 36hg18NCBI36
Build 345135,392,596 - 135,427,406NCBI
Celera5131,489,316 - 131,524,237 (+)NCBICelera
Cytogenetic Map5q31.1NCBI
HuRef5130,553,034 - 130,587,955 (+)NCBIHuRef
CHM1_15134,797,217 - 134,832,140 (+)NCBICHM1_1
T2T-CHM13v2.05136,551,486 - 136,586,315 (+)NCBIT2T-CHM13v2.0
Tgfbi
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391356,757,399 - 56,787,172 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1356,757,336 - 56,787,375 (+)EnsemblGRCm39 Ensembl
GRCm381356,609,586 - 56,639,359 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1356,609,523 - 56,639,562 (+)EnsemblGRCm38mm10GRCm38
MGSCv371356,710,964 - 56,740,700 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361356,619,225 - 56,648,961 (+)NCBIMGSCv36mm8
Celera1357,674,398 - 57,704,061 (+)NCBICelera
Cytogenetic Map13B1NCBI
cM Map1330.09NCBI
Tgfbi
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8177,960,885 - 7,990,234 (-)NCBIGRCr8
mRatBN7.2177,955,603 - 7,984,903 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,955,603 - 7,985,240 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx177,973,969 - 8,002,492 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0179,505,209 - 9,534,325 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0177,970,355 - 7,998,883 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,400,123 - 8,429,338 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,400,146 - 8,429,338 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01710,576,347 - 10,605,606 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41713,904,882 - 13,935,110 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11713,907,546 - 13,912,997 (-)NCBI
Celera178,049,686 - 8,078,886 (-)NCBICelera
Cytogenetic Map17p14NCBI
Tgfbi
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540831,093,050 - 31,125,398 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540831,093,450 - 31,124,715 (+)NCBIChiLan1.0ChiLan1.0
TGFBI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24131,295,568 - 131,350,946 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15129,405,032 - 129,490,506 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05131,420,403 - 131,455,265 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15137,560,046 - 137,594,970 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5137,559,321 - 137,596,392 (+)Ensemblpanpan1.1panPan2
TGFBI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11123,932,038 - 23,971,983 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1123,938,453 - 23,971,607 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1122,686,607 - 22,719,238 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01124,755,795 - 24,788,452 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1124,755,189 - 24,788,074 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11123,442,552 - 23,475,191 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01123,309,379 - 23,341,990 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01123,958,407 - 23,991,029 (+)NCBIUU_Cfam_GSD_1.0
Tgfbi
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213124,103,129 - 124,136,978 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365973,127,795 - 3,162,242 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365973,128,007 - 3,161,885 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGFBI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2138,191,807 - 138,225,366 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12138,191,793 - 138,225,373 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22143,856,237 - 143,880,047 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TGFBI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12338,774,387 - 38,808,624 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2338,774,473 - 38,808,649 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603439,100,477 - 39,134,819 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tgfbi
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473311,038,043 - 11,071,175 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473311,038,041 - 11,070,559 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in TGFBI
163 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) single nucleotide variant Corneal dystrophy, lattice type 3A [RCV002227439]|Groenouw corneal dystrophy type I [RCV000008315]|Lattice corneal dystrophy Type I [RCV002288474]|not provided [RCV003329228] Chr5:136056780 [GRCh38]
Chr5:135392469 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1664G>A (p.Arg555Gln) single nucleotide variant Thiel-Behnke corneal dystrophy [RCV000008316]|not provided [RCV002512900] Chr5:136056781 [GRCh38]
Chr5:135392470 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.370C>T (p.Arg124Cys) single nucleotide variant Epithelial-stromal TGFBI dystrophy [RCV002466395]|Lattice corneal dystrophy Type I [RCV000008317]|not provided [RCV002512901] Chr5:136046406 [GRCh38]
Chr5:135382095 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.371G>A (p.Arg124His) single nucleotide variant Avellino corneal dystrophy [RCV000008318]|Lattice corneal dystrophy Type I [RCV001807721]|not provided [RCV001543464] Chr5:136046407 [GRCh38]
Chr5:135382096 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1618_1620del (p.Phe540del) deletion Reis-Bucklers' corneal dystrophy [RCV000008319] Chr5:136056735..136056737 [GRCh38]
Chr5:135392424..135392426 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) single nucleotide variant Corneal dystrophy [RCV000779458]|Corneal dystrophy, lattice type 3A [RCV000008320]|Corneal dystrophy, lattice type 3A [RCV004795381]|not provided [RCV001851732]|not specified [RCV002247265] Chr5:136055770 [GRCh38]
Chr5:135391459 [GRCh37]
Chr5:5q31.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu) single nucleotide variant Avellino corneal dystrophy [RCV000995667]|Reis-Bucklers' corneal dystrophy [RCV000008321]|not provided [RCV003555972] Chr5:136046407 [GRCh38]
Chr5:135382096 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.370C>A (p.Arg124Ser) single nucleotide variant Epithelial-stromal TGFBI dystrophy [RCV002466396]|Groenouw corneal dystrophy type I [RCV000008322] Chr5:136046406 [GRCh38]
Chr5:135382095 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1619T>C (p.Phe540Ser) single nucleotide variant Corneal dystrophy, lattice type 3A [RCV000008324] Chr5:136056736 [GRCh38]
Chr5:135392425 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1868G>A (p.Gly623Asp) single nucleotide variant Reis-Bucklers' corneal dystrophy [RCV000008325] Chr5:136060898 [GRCh38]
Chr5:135396587 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1526T>G (p.Leu509Arg) single nucleotide variant Epithelial basement membrane dystrophy [RCV000008326] Chr5:136055795 [GRCh38]
Chr5:135391484 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser) single nucleotide variant Corneal dystrophy [RCV001153696]|Epithelial basement membrane dystrophy [RCV000008327]|not provided [RCV002512902]|not specified [RCV002247266] Chr5:136062674 [GRCh38]
Chr5:135398363 [GRCh37]
Chr5:5q31.1		 pathogenic|benign|likely benign|uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 copy number loss See cases [RCV000052114] Chr5:133401565..138437038 [GRCh38]
Chr5:132737257..137772727 [GRCh37]
Chr5:132765156..137800626 [NCBI36]
Chr5:5q31.1-31.2		 pathogenic
GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1 copy number loss See cases [RCV000052116] Chr5:135894042..137619032 [GRCh38]
Chr5:135229731..136954721 [GRCh37]
Chr5:135257630..136982620 [NCBI36]
Chr5:5q31.1-31.2		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_000358.2(TGFBI):c.593C>T (p.Ser198Phe) single nucleotide variant Malignant melanoma [RCV000066631] Chr5:136046984 [GRCh38]
Chr5:135382673 [GRCh37]
Chr5:135410572 [NCBI36]
Chr5:5q31.1		 not provided
NM_000358.3(TGFBI):c.948dup (p.Cys317fs) duplication Avellino corneal dystrophy [RCV001333388] Chr5:136052940..136052941 [GRCh38]
Chr5:135388629..135388630 [GRCh37]
Chr5:5q31.1		 pathogenic
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3		 pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2		 pathogenic
NM_000358.3(TGFBI):c.2001T>C (p.Ser667=) single nucleotide variant Corneal dystrophy [RCV000264976] Chr5:136062677 [GRCh38]
Chr5:135398366 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.460-16C>T single nucleotide variant not provided [RCV003105836]|not specified [RCV000248458] Chr5:136046835 [GRCh38]
Chr5:135382524 [GRCh37]
Chr5:5q31.1		 benign
NM_000358.3(TGFBI):c.1265-11C>A single nucleotide variant Corneal dystrophy [RCV000286360] Chr5:136054705 [GRCh38]
Chr5:135390394 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.968C>T (p.Ala323Val) single nucleotide variant Corneal dystrophy [RCV000279769]|not provided [RCV000905616] Chr5:136052961 [GRCh38]
Chr5:135388650 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.1027A>G (p.Met343Val) single nucleotide variant Corneal dystrophy [RCV000280879]|not provided [RCV000966961] Chr5:136053020 [GRCh38]
Chr5:135388709 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.678C>T (p.Asn226=) single nucleotide variant Corneal dystrophy [RCV000273824]|not provided [RCV003688845] Chr5:136047327 [GRCh38]
Chr5:135383016 [GRCh37]
Chr5:5q31.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000358.3(TGFBI):c.1620T>C (p.Phe540=) single nucleotide variant Corneal dystrophy [RCV000263346]|not provided [RCV002057346]|not specified [RCV000243709] Chr5:136056737 [GRCh38]
Chr5:135392426 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1416C>T (p.Leu472=) single nucleotide variant Corneal dystrophy [RCV000311741]|not provided [RCV002055036]|not specified [RCV000252272] Chr5:136055685 [GRCh38]
Chr5:135391374 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1513G>A (p.Val505Ile) single nucleotide variant Corneal dystrophy [RCV000276409] Chr5:136055782 [GRCh38]
Chr5:135391471 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.981A>G (p.Val327=) single nucleotide variant Corneal dystrophy [RCV000375363]|not provided [RCV001651123]|not specified [RCV000243404] Chr5:136052974 [GRCh38]
Chr5:135388663 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.651G>C (p.Leu217=) single nucleotide variant Corneal dystrophy [RCV000327951]|not provided [RCV002057347]|not specified [RCV000253242] Chr5:136047300 [GRCh38]
Chr5:135382989 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1540C>T (p.Arg514Cys) single nucleotide variant Corneal dystrophy [RCV000298788]|not provided [RCV003546546] Chr5:136055809 [GRCh38]
Chr5:135391498 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.1584G>A (p.Thr528=) single nucleotide variant Corneal dystrophy [RCV000353540]|TGFBI-related disorder [RCV003922545] Chr5:136056701 [GRCh38]
Chr5:135392390 [GRCh37]
Chr5:5q31.1		 benign|likely benign|uncertain significance
NM_000358.3(TGFBI):c.969G>A (p.Ala323=) single nucleotide variant Corneal dystrophy [RCV000316116]|TGFBI-related disorder [RCV003922544] Chr5:136052962 [GRCh38]
Chr5:135388651 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.134+14C>A single nucleotide variant Corneal dystrophy [RCV000335682]|not provided [RCV002520306] Chr5:136029203 [GRCh38]
Chr5:135364892 [GRCh37]
Chr5:5q31.1		 benign|uncertain significance
NM_000358.3(TGFBI):c.1083C>T (p.Asn361=) single nucleotide variant Corneal dystrophy [RCV000399285]|not provided [RCV002520308] Chr5:136053076 [GRCh38]
Chr5:135388765 [GRCh37]
Chr5:5q31.1		 benign|uncertain significance
NM_000358.3(TGFBI):c.1803G>A (p.Leu601=) single nucleotide variant Corneal dystrophy [RCV000377891]|not provided [RCV002520311] Chr5:136059214 [GRCh38]
Chr5:135394903 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.273C>T (p.Val91=) single nucleotide variant Corneal dystrophy [RCV000302366] Chr5:136044097 [GRCh38]
Chr5:135379786 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1749C>T (p.Ile583=) single nucleotide variant Corneal dystrophy [RCV000318638]|TGFBI-related disorder [RCV003970016]|not provided [RCV003688846] Chr5:136059160 [GRCh38]
Chr5:135394849 [GRCh37]
Chr5:5q31.1		 benign|likely benign|uncertain significance
NM_000358.3(TGFBI):c.*40C>T single nucleotide variant Corneal dystrophy [RCV000379450] Chr5:136063266 [GRCh38]
Chr5:135398955 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*72T>C single nucleotide variant Corneal dystrophy [RCV000289486] Chr5:136063298 [GRCh38]
Chr5:135398987 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1061A>G (p.Asn354Ser) single nucleotide variant Corneal dystrophy [RCV000340169]|not provided [RCV005090568] Chr5:136053054 [GRCh38]
Chr5:135388743 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1411-3C>T single nucleotide variant Corneal dystrophy [RCV000406150]|not provided [RCV002520310] Chr5:136055677 [GRCh38]
Chr5:135391366 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1265-11C>T single nucleotide variant Corneal dystrophy [RCV000341316]|not provided [RCV002520309] Chr5:136054705 [GRCh38]
Chr5:135390394 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.141C>T (p.Asn47=) single nucleotide variant Corneal dystrophy [RCV000407008] Chr5:136033769 [GRCh38]
Chr5:135369458 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.2(TGFBI):c.-124C>A single nucleotide variant Corneal Dystrophy, Dominant [RCV000407013] Chr5:136028932 [GRCh38]
Chr5:135364621 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1312C>T (p.His438Tyr) single nucleotide variant Corneal dystrophy [RCV000306431]|not provided [RCV000886133] Chr5:136054763 [GRCh38]
Chr5:135390452 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.459+14C>T single nucleotide variant Corneal dystrophy [RCV000362797] Chr5:136046509 [GRCh38]
Chr5:135382198 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*458G>A single nucleotide variant Corneal dystrophy [RCV000385227] Chr5:136063684 [GRCh38]
Chr5:135399373 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.*267C>A single nucleotide variant Corneal dystrophy [RCV000344734] Chr5:136063493 [GRCh38]
Chr5:135399182 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.816C>T (p.Asn272=) single nucleotide variant Corneal dystrophy [RCV000388183]|not provided [RCV002520307] Chr5:136049483 [GRCh38]
Chr5:135385172 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.321C>T (p.Tyr107=) single nucleotide variant Corneal dystrophy [RCV000390569] Chr5:136046357 [GRCh38]
Chr5:135382046 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1377C>T (p.Gly459=) single nucleotide variant Corneal dystrophy [RCV000347309] Chr5:136054828 [GRCh38]
Chr5:135390517 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.1454G>A (p.Arg485Lys) single nucleotide variant Corneal dystrophy [RCV000371032] Chr5:136055723 [GRCh38]
Chr5:135391412 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.535C>T (p.Arg179Ter) single nucleotide variant Corneal dystrophy [RCV000272885] Chr5:136046926 [GRCh38]
Chr5:135382615 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.2(TGFBI):c.-106C>T single nucleotide variant Corneal Dystrophy, Dominant [RCV000278267] Chr5:136028950 [GRCh38]
Chr5:135364639 [GRCh37]
Chr5:5q31.1		 uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_000358.3(TGFBI):c.1631A>G (p.Asn544Ser) single nucleotide variant Corneal dystrophy [RCV001152421]|Corneal dystrophy, lattice type 3A [RCV000490305] Chr5:136056748 [GRCh38]
Chr5:135392437 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*551A>G single nucleotide variant Corneal dystrophy [RCV000290792] Chr5:136063777 [GRCh38]
Chr5:135399466 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.283A>G (p.Lys95Glu) single nucleotide variant Corneal dystrophy [RCV000361684] Chr5:136044107 [GRCh38]
Chr5:135379796 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.721A>G (p.Asn241Asp) single nucleotide variant Corneal dystrophy [RCV000333646] Chr5:136047370 [GRCh38]
Chr5:135383059 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.675C>A (p.Thr225=) single nucleotide variant Corneal dystrophy [RCV000368417] Chr5:136047324 [GRCh38]
Chr5:135383013 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1284T>A (p.Asp428Glu) single nucleotide variant Corneal dystrophy [RCV000407658] Chr5:136054735 [GRCh38]
Chr5:135390424 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.348C>A (p.Thr116=) single nucleotide variant Corneal dystrophy [RCV000308074] Chr5:136046384 [GRCh38]
Chr5:135382073 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*21A>G single nucleotide variant Corneal dystrophy [RCV000324885] Chr5:136063247 [GRCh38]
Chr5:135398936 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1643G>A (p.Arg548Gln) single nucleotide variant Corneal dystrophy [RCV001152422]|not provided [RCV004694956] Chr5:136056760 [GRCh38]
Chr5:135392449 [GRCh37]
Chr5:5q31.1		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q31.1(chr5:135395863-135680453)x3 copy number gain See cases [RCV000446642] Chr5:135395863..135680453 [GRCh37]
Chr5:5q31.1		 uncertain significance
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
GRCh37/hg19 5q31.1(chr5:135396615-135680453)x3 copy number gain See cases [RCV000448590] Chr5:135396615..135680453 [GRCh37]
Chr5:5q31.1		 uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000358.3(TGFBI):c.1306C>T (p.Arg436Trp) single nucleotide variant Inborn genetic diseases [RCV003307216] Chr5:136054757 [GRCh38]
Chr5:135390446 [GRCh37]
Chr5:5q31.1		 uncertain significance
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1 copy number loss not provided [RCV000762739] Chr5:126377719..136270989 [GRCh37]
Chr5:5q23.2-31.2		 likely pathogenic
NM_000358.3(TGFBI):c.1517_1518insCAAGGG (p.Met506delinsIleLysGly) insertion Reis-Bucklers' corneal dystrophy [RCV003314513] Chr5:136055786..136055787 [GRCh38]
Chr5:135391475..135391476 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NM_000358.3(TGFBI):c.805C>T (p.Leu269Phe) single nucleotide variant Corneal dystrophy [RCV001157797]|TGFBI-related disorder [RCV003960457]|not provided [RCV000927446] Chr5:136049472 [GRCh38]
Chr5:135385161 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1167C>T (p.Ser389=) single nucleotide variant Corneal dystrophy [RCV001153603]|not provided [RCV000982998] Chr5:136053983 [GRCh38]
Chr5:135389672 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.801G>C (p.Thr267=) single nucleotide variant not provided [RCV000929134] Chr5:136049468 [GRCh38]
Chr5:135385157 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.820C>T (p.Gln274Ter) single nucleotide variant Corneal dystrophy [RCV000779456] Chr5:136049487 [GRCh38]
Chr5:135385176 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1471del (p.Leu491fs) deletion Corneal dystrophy [RCV000779457] Chr5:136055738 [GRCh38]
Chr5:135391427 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.2005C>T (p.Arg669Ter) single nucleotide variant Corneal dystrophy [RCV000779459] Chr5:136062681 [GRCh38]
Chr5:135398370 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.801G>A (p.Thr267=) single nucleotide variant not provided [RCV000917615] Chr5:136049468 [GRCh38]
Chr5:135385157 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1446C>T (p.His482=) single nucleotide variant not provided [RCV000964260] Chr5:136055715 [GRCh38]
Chr5:135391404 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1486C>G (p.Arg496Gly) single nucleotide variant Corneal dystrophy [RCV001157893]|not provided [RCV000969207] Chr5:136055755 [GRCh38]
Chr5:135391444 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1439C>T (p.Ala480Val) single nucleotide variant Corneal dystrophy [RCV001156215]|not provided [RCV000919060] Chr5:136055708 [GRCh38]
Chr5:135391397 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.2012-5T>C single nucleotide variant Corneal dystrophy [RCV001153697]|not provided [RCV000971883] Chr5:136063181 [GRCh38]
Chr5:135398870 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1378G>A (p.Gly460Ser) single nucleotide variant Inborn genetic diseases [RCV003271899] Chr5:136054829 [GRCh38]
Chr5:135390518 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1669A>C (p.Arg557=) single nucleotide variant not provided [RCV000976734] Chr5:136056786 [GRCh38]
Chr5:135392475 [GRCh37]
Chr5:5q31.1		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_000358.3(TGFBI):c.1611C>T (p.Tyr537=) single nucleotide variant Corneal dystrophy [RCV001157896] Chr5:136056728 [GRCh38]
Chr5:135392417 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.460-17C>T single nucleotide variant not provided [RCV003106314] Chr5:136046834 [GRCh38]
Chr5:135382523 [GRCh37]
Chr5:5q31.1		 benign
NM_000358.3(TGFBI):c.423C>T (p.Phe141=) single nucleotide variant not provided [RCV000953508] Chr5:136046459 [GRCh38]
Chr5:135382148 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.852C>A (p.Ala284=) single nucleotide variant Corneal dystrophy [RCV001152315]|not provided [RCV000922966] Chr5:136049519 [GRCh38]
Chr5:135385208 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.1504A>G (p.Met502Val) single nucleotide variant Corneal dystrophy [RCV001157895]|not provided [RCV000886199] Chr5:136055773 [GRCh38]
Chr5:135391462 [GRCh37]
Chr5:5q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000358.3(TGFBI):c.1194C>T (p.Ala398=) single nucleotide variant Corneal dystrophy [RCV001153605] Chr5:136054010 [GRCh38]
Chr5:135389699 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1291A>G (p.Thr431Ala) single nucleotide variant Corneal dystrophy [RCV001156213]|Inborn genetic diseases [RCV002558359] Chr5:136054742 [GRCh38]
Chr5:135390431 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.739A>C (p.Ile247Leu) single nucleotide variant Corneal dystrophy [RCV001157796]|Inborn genetic diseases [RCV002559518] Chr5:136047388 [GRCh38]
Chr5:135383077 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.562G>A (p.Gly188Ser) single nucleotide variant Inborn genetic diseases [RCV003294665] Chr5:136046953 [GRCh38]
Chr5:135382642 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.190A>C (p.Asn64His) single nucleotide variant Inborn genetic diseases [RCV003276132] Chr5:136033818 [GRCh38]
Chr5:135369507 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.334G>A (p.Val112Ile) single nucleotide variant Corneal dystrophy [RCV001156107] Chr5:136046370 [GRCh38]
Chr5:135382059 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*119G>A single nucleotide variant Corneal dystrophy [RCV001156304] Chr5:136063345 [GRCh38]
Chr5:135399034 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*462C>G single nucleotide variant Corneal dystrophy [RCV001156307] Chr5:136063688 [GRCh38]
Chr5:135399377 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1405C>T (p.Arg469Cys) single nucleotide variant Corneal dystrophy [RCV001156214] Chr5:136054856 [GRCh38]
Chr5:135390545 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*534G>T single nucleotide variant Corneal dystrophy [RCV001156308] Chr5:136063760 [GRCh38]
Chr5:135399449 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.393G>T (p.Glu131Asp) single nucleotide variant Corneal dystrophy [RCV001157795] Chr5:136046429 [GRCh38]
Chr5:135382118 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1501C>T (p.Pro501Ser) single nucleotide variant Corneal dystrophy [RCV001157894] Chr5:136055770 [GRCh38]
Chr5:135391459 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*537T>G single nucleotide variant Corneal dystrophy [RCV001157980]|not provided [RCV004695001] Chr5:136063763 [GRCh38]
Chr5:135399452 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.2040G>C (p.Arg680Ser) single nucleotide variant Corneal dystrophy [RCV001153698] Chr5:136063214 [GRCh38]
Chr5:135398903 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1127-11C>T single nucleotide variant Corneal dystrophy [RCV001153602] Chr5:136053932 [GRCh38]
Chr5:135389621 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.387G>C (p.Arg129Ser) single nucleotide variant Corneal dystrophy [RCV001156108]|Corneal dystrophy, lattice type 3A [RCV005051862] Chr5:136046423 [GRCh38]
Chr5:135382112 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*395C>A single nucleotide variant Corneal dystrophy [RCV001156306]|not provided [RCV004706040] Chr5:136063621 [GRCh38]
Chr5:135399310 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1741G>A (p.Gly581Arg) single nucleotide variant Corneal dystrophy [RCV001152425] Chr5:136059152 [GRCh38]
Chr5:135394841 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.895G>A (p.Asp299Asn) single nucleotide variant Corneal dystrophy [RCV001152316]|not provided [RCV002559471] Chr5:136049562 [GRCh38]
Chr5:135385251 [GRCh37]
Chr5:5q31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000358.3(TGFBI):c.1000A>G (p.Thr334Ala) single nucleotide variant Corneal dystrophy [RCV001152317]|Inborn genetic diseases [RCV002557288] Chr5:136052993 [GRCh38]
Chr5:135388682 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1645G>A (p.Ala549Thr) single nucleotide variant Corneal dystrophy [RCV001152423]|not provided [RCV004707554] Chr5:136056762 [GRCh38]
Chr5:135392451 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1676T>G (p.Leu559Trp) single nucleotide variant Corneal dystrophy [RCV001152424]|Inborn genetic diseases [RCV002558326] Chr5:136056793 [GRCh38]
Chr5:135392482 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1193C>A (p.Ala398Asp) single nucleotide variant Corneal dystrophy [RCV001153604] Chr5:136054009 [GRCh38]
Chr5:135389698 [GRCh37]
Chr5:5q31.1		 uncertain significance
NC_000005.10:g.(?_136052907)_(136054861_?)del deletion not provided [RCV001032398] Chr5:135388596..135390550 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1949C>T (p.Ala650Val) single nucleotide variant Corneal dystrophy [RCV001153694]|not provided [RCV004694965] Chr5:136061542 [GRCh38]
Chr5:135397231 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.*355A>G single nucleotide variant Corneal dystrophy [RCV001156305] Chr5:136063581 [GRCh38]
Chr5:135399270 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1992C>T (p.Ser664=) single nucleotide variant Corneal dystrophy [RCV001153695]|not provided [RCV004707557] Chr5:136062668 [GRCh38]
Chr5:135398357 [GRCh37]
Chr5:5q31.1		 benign|likely benign
NM_000358.3(TGFBI):c.1772C>A (p.Ser591Tyr) single nucleotide variant Thiel-Behnke corneal dystrophy [RCV001267812] Chr5:136059183 [GRCh38]
Chr5:135394872 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NC_000005.9:g.(?_135388596)_(135390550_?)del deletion not provided [RCV001307936] Chr5:135388596..135390550 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1406G>A (p.Arg469His) single nucleotide variant Granular corneal dystrophy [RCV001530524] Chr5:136054857 [GRCh38]
Chr5:135390546 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NM_000358.3(TGFBI):c.1864A>C (p.Asn622His) single nucleotide variant Epithelial-stromal TGFBI dystrophy [RCV002466693] Chr5:136060894 [GRCh38]
Chr5:135396583 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NM_000358.3(TGFBI):c.1612A>C (p.Thr538Pro) single nucleotide variant Epithelial-stromal TGFBI dystrophy [RCV002466692] Chr5:136056729 [GRCh38]
Chr5:135392418 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NM_000358.3(TGFBI):c.367G>C (p.Asp123His) single nucleotide variant not specified [RCV002246863] Chr5:136046403 [GRCh38]
Chr5:135382092 [GRCh37]
Chr5:5q31.1		 benign
NM_000358.3(TGFBI):c.1855A>G (p.Met619Val) single nucleotide variant Groenouw corneal dystrophy type I [RCV001807998] Chr5:136060885 [GRCh38]
Chr5:135396574 [GRCh37]
Chr5:5q31.1		 likely pathogenic
GRCh37/hg19 5q31.1(chr5:135396615-135680453) copy number gain not specified [RCV002053532] Chr5:135396615..135680453 [GRCh37]
Chr5:5q31.1		 uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3		 pathogenic
GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639) copy number loss not specified [RCV002053530] Chr5:132031902..137623639 [GRCh37]
Chr5:5q31.1-31.2		 pathogenic
NC_000005.9:g.(?_133533463)_(135398915_?)dup duplication not provided [RCV004580609] Chr5:133533463..135398915 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.337G>A (p.Val113Ile) single nucleotide variant not provided [RCV001903504] Chr5:136046373 [GRCh38]
Chr5:135382062 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.233+3G>A single nucleotide variant not provided [RCV002148723] Chr5:136033864 [GRCh38]
Chr5:135369553 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1870G>A (p.Val624Met) single nucleotide variant not specified [RCV002248902] Chr5:136060900 [GRCh38]
Chr5:135396589 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.67G>T (p.Ala23Ser) single nucleotide variant Inborn genetic diseases [RCV003254950] Chr5:136029122 [GRCh38]
Chr5:135364811 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1428C>G (p.Asn476Lys) single nucleotide variant Inborn genetic diseases [RCV003261347] Chr5:136055697 [GRCh38]
Chr5:135391386 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1385A>C (p.Lys462Thr) single nucleotide variant Inborn genetic diseases [RCV002683982] Chr5:136054836 [GRCh38]
Chr5:135390525 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1199T>A (p.Leu400His) single nucleotide variant Inborn genetic diseases [RCV002772375] Chr5:136054015 [GRCh38]
Chr5:135389704 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.881A>G (p.Asn294Ser) single nucleotide variant Inborn genetic diseases [RCV002905124] Chr5:136049548 [GRCh38]
Chr5:135385237 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.2035G>C (p.Glu679Gln) single nucleotide variant Inborn genetic diseases [RCV002914197]|not provided [RCV002937277] Chr5:136063209 [GRCh38]
Chr5:135398898 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.50G>C (p.Gly17Ala) single nucleotide variant Inborn genetic diseases [RCV002951863]|TGFBI-related disorder [RCV003918975] Chr5:136029105 [GRCh38]
Chr5:135364794 [GRCh37]
Chr5:5q31.1		 likely benign|uncertain significance
NM_000358.3(TGFBI):c.1877A>G (p.His626Arg) single nucleotide variant not provided [RCV003037122] Chr5:136060907 [GRCh38]
Chr5:135396596 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.5C>G (p.Ala2Gly) single nucleotide variant Inborn genetic diseases [RCV002910478] Chr5:136029060 [GRCh38]
Chr5:135364749 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1049C>T (p.Ala350Val) single nucleotide variant Inborn genetic diseases [RCV002738898] Chr5:136053042 [GRCh38]
Chr5:135388731 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.952G>A (p.Ala318Thr) single nucleotide variant Inborn genetic diseases [RCV002764846] Chr5:136052945 [GRCh38]
Chr5:135388634 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.2041A>T (p.Met681Leu) single nucleotide variant Inborn genetic diseases [RCV002827203] Chr5:136063215 [GRCh38]
Chr5:135398904 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1486C>T (p.Arg496Trp) single nucleotide variant not provided [RCV002963361] Chr5:136055755 [GRCh38]
Chr5:135391444 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.77C>T (p.Ala26Val) single nucleotide variant Inborn genetic diseases [RCV002936930] Chr5:136029132 [GRCh38]
Chr5:135364821 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1464C>T (p.Tyr488=) single nucleotide variant not provided [RCV002603314] Chr5:136055733 [GRCh38]
Chr5:135391422 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1540C>G (p.Arg514Gly) single nucleotide variant Inborn genetic diseases [RCV002678126]|not provided [RCV004695379] Chr5:136055809 [GRCh38]
Chr5:135391498 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.446C>T (p.Ala149Val) single nucleotide variant Inborn genetic diseases [RCV003202771] Chr5:136046482 [GRCh38]
Chr5:135382171 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1025A>G (p.Asp342Gly) single nucleotide variant Inborn genetic diseases [RCV003189117] Chr5:136053018 [GRCh38]
Chr5:135388707 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1640T>G (p.Phe547Cys) single nucleotide variant not provided [RCV003223188] Chr5:136056757 [GRCh38]
Chr5:135392446 [GRCh37]
Chr5:5q31.1		 likely pathogenic
NM_000358.3(TGFBI):c.2006G>A (p.Arg669Gln) single nucleotide variant Inborn genetic diseases [RCV003375082] Chr5:136062682 [GRCh38]
Chr5:135398371 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1200C>T (p.Leu400=) single nucleotide variant not provided [RCV003728560] Chr5:136054016 [GRCh38]
Chr5:135389705 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1752G>A (p.Gly584=) single nucleotide variant not provided [RCV003822377] Chr5:136059163 [GRCh38]
Chr5:135394852 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1078A>T (p.Thr360Ser) single nucleotide variant not provided [RCV003728678] Chr5:136053071 [GRCh38]
Chr5:135388760 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1950G>A (p.Ala650=) single nucleotide variant TGFBI-related disorder [RCV003904013] Chr5:136061543 [GRCh38]
Chr5:135397232 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.690C>T (p.His230=) single nucleotide variant TGFBI-related disorder [RCV003906857] Chr5:136047339 [GRCh38]
Chr5:135383028 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.1100T>C (p.Ile367Thr) single nucleotide variant Inborn genetic diseases [RCV004474512] Chr5:136053093 [GRCh38]
Chr5:135388782 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.114G>C (p.Arg38Ser) single nucleotide variant Inborn genetic diseases [RCV004474513] Chr5:136029169 [GRCh38]
Chr5:135364858 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1583C>T (p.Thr528Met) single nucleotide variant Inborn genetic diseases [RCV004474515] Chr5:136056700 [GRCh38]
Chr5:135392389 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1802T>G (p.Leu601Trp) single nucleotide variant Inborn genetic diseases [RCV004474516] Chr5:136059213 [GRCh38]
Chr5:135394902 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.964G>A (p.Val322Ile) single nucleotide variant Inborn genetic diseases [RCV004474520] Chr5:136052957 [GRCh38]
Chr5:135388646 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.224G>A (p.Gly75Asp) single nucleotide variant Inborn genetic diseases [RCV004474518] Chr5:136033852 [GRCh38]
Chr5:135369541 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.691C>T (p.Leu231Phe) single nucleotide variant Inborn genetic diseases [RCV004474519] Chr5:136047340 [GRCh38]
Chr5:135383029 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.14T>C (p.Val5Ala) single nucleotide variant Inborn genetic diseases [RCV004668407] Chr5:136029069 [GRCh38]
Chr5:135364758 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.424G>A (p.Ala142Thr) single nucleotide variant not provided [RCV004698168] Chr5:136046460 [GRCh38]
Chr5:135382149 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.2042T>A (p.Met681Lys) single nucleotide variant Inborn genetic diseases [RCV004668412] Chr5:136063216 [GRCh38]
Chr5:135398905 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1028T>A (p.Met343Lys) single nucleotide variant Inborn genetic diseases [RCV004668409] Chr5:136053021 [GRCh38]
Chr5:135388710 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1655C>A (p.Pro552Gln) single nucleotide variant Inborn genetic diseases [RCV004668410] Chr5:136056772 [GRCh38]
Chr5:135392461 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.206A>C (p.Tyr69Ser) single nucleotide variant Inborn genetic diseases [RCV004676795] Chr5:136033834 [GRCh38]
Chr5:135369523 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.307C>T (p.Leu103Phe) single nucleotide variant Inborn genetic diseases [RCV004676796] Chr5:136046343 [GRCh38]
Chr5:135382032 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1221T>G (p.Ser407Arg) single nucleotide variant Inborn genetic diseases [RCV004676797] Chr5:136054037 [GRCh38]
Chr5:135389726 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1877A>C (p.His626Pro) single nucleotide variant not provided [RCV004575357] Chr5:136060907 [GRCh38]
Chr5:135396596 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.322G>A (p.Glu108Lys) single nucleotide variant Inborn genetic diseases [RCV004668408] Chr5:136046358 [GRCh38]
Chr5:135382047 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.976T>G (p.Ser326Ala) single nucleotide variant Inborn genetic diseases [RCV004668411] Chr5:136052969 [GRCh38]
Chr5:135388658 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1705C>G (p.Leu569Val) single nucleotide variant Avellino corneal dystrophy [RCV004764751] Chr5:136059116 [GRCh38]
Chr5:135394805 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.911G>A (p.Arg304Lys) single nucleotide variant not provided [RCV004726159] Chr5:136049578 [GRCh38]
Chr5:135385267 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1496C>G (p.Thr499Ser) single nucleotide variant Inborn genetic diseases [RCV004971768] Chr5:136055765 [GRCh38]
Chr5:135391454 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1083C>G (p.Asn361Lys) single nucleotide variant Inborn genetic diseases [RCV004971769] Chr5:136053076 [GRCh38]
Chr5:135388765 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1117C>G (p.Pro373Ala) single nucleotide variant Inborn genetic diseases [RCV004971767] Chr5:136053110 [GRCh38]
Chr5:135388799 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1156T>A (p.Ser386Thr) single nucleotide variant Inborn genetic diseases [RCV004971770] Chr5:136053972 [GRCh38]
Chr5:135389661 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1487G>A (p.Arg496Gln) single nucleotide variant Inborn genetic diseases [RCV004971766]|not provided [RCV005107935] Chr5:136055756 [GRCh38]
Chr5:135391445 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.771+11G>T single nucleotide variant not provided [RCV005064333] Chr5:136047431 [GRCh38]
Chr5:135383120 [GRCh37]
Chr5:5q31.1		 likely benign
NM_000358.3(TGFBI):c.598A>T (p.Ile200Phe) single nucleotide variant not provided [RCV005206744] Chr5:136046989 [GRCh38]
Chr5:135382678 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.719C>T (p.Thr240Ile) single nucleotide variant not provided [RCV005179904] Chr5:136047368 [GRCh38]
Chr5:135383057 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1237C>G (p.Leu413Val) single nucleotide variant not provided [RCV005078157] Chr5:136054053 [GRCh38]
Chr5:135389742 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1226G>A (p.Arg409Gln) single nucleotide variant not provided [RCV005197730] Chr5:136054042 [GRCh38]
Chr5:135389731 [GRCh37]
Chr5:5q31.1		 uncertain significance
NM_000358.3(TGFBI):c.1856T>A (p.Met619Lys) single nucleotide variant not provided [RCV005200527] Chr5:136060886 [GRCh38]
Chr5:135396575 [GRCh37]
Chr5:5q31.1		 pathogenic
NM_000358.3(TGFBI):c.274C>T (p.Pro92Ser) single nucleotide variant not provided [RCV005156513] Chr5:136044098 [GRCh38]
Chr5:135379787 [GRCh37]
Chr5:5q31.1		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR21hsa-miR-21-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19136465

Predicted Target Of
Summary Value
Count of predictions:4189
Count of miRNA genes:1087
Interacting mature miRNAs:1351
Transcripts:ENST00000305126, ENST00000442011, ENST00000503087, ENST00000504185, ENST00000504411, ENST00000506699, ENST00000507018, ENST00000508076, ENST00000508767, ENST00000509485, ENST00000509749, ENST00000513497, ENST00000514242, ENST00000514554, ENST00000515433, ENST00000604555
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406941489GWAS590465_Hinsomnia measurement QTL GWAS590465 (human)2e-08sleep behavior trait (VT:0001501)5136058065136058066Human
406941488GWAS590464_Hinsomnia measurement QTL GWAS590464 (human)4e-17sleep behavior trait (VT:0001501)5136058065136058066Human
597020663GWAS1116737_Hstroke QTL GWAS1116737 (human)0.0000003stroke5136060763136060764Human
597034117GWAS1130191_Hblood protein measurement QTL GWAS1130191 (human)0.0000005blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)5136032068136032069Human
406941490GWAS590466_Hinsomnia measurement QTL GWAS590466 (human)4e-11sleep behavior trait (VT:0001501)5136058065136058066Human
1357314AASTH54_HAllergic/atopic asthma related QTL 54 (human)3.560.0003Reversible airflow obstructiontotal serum IgE5135892246150155845Human
597123436GWAS1219510_Hblood protein measurement QTL GWAS1219510 (human)2e-99blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)5136053744136053745Human
406958381GWAS607357_Hresponse to gemcitabine QTL GWAS607357 (human)0.000004response to gemcitabine5136041877136041878Human
597037080GWAS1133154_Hblood protein measurement QTL GWAS1133154 (human)4e-61blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)5136057449136057450Human

Markers in Region
RH67865  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,399,156 - 135,399,300UniSTSGRCh37
Build 365135,427,055 - 135,427,199RGDNCBI36
Celera5131,523,886 - 131,524,030RGD
Cytogenetic Map5q31UniSTS
HuRef5130,587,604 - 130,587,748UniSTS
GeneMap99-GB4 RH Map5516.78UniSTS
RH36452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,382,622 - 135,383,072UniSTSGRCh37
Build 365135,410,521 - 135,410,971RGDNCBI36
Celera5131,507,354 - 131,507,804RGD
Cytogenetic Map5q31UniSTS
HuRef5130,571,072 - 130,571,522UniSTS
GeneMap99-GB4 RH Map5512.84UniSTS
RH79676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,399,202 - 135,399,475UniSTSGRCh37
Build 365135,427,101 - 135,427,374RGDNCBI36
Celera5131,523,932 - 131,524,205RGD
Cytogenetic Map5q31UniSTS
HuRef5130,587,650 - 130,587,923UniSTS
GeneMap99-GB4 RH Map5519.2UniSTS
RH76242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,398,922 - 135,399,136UniSTSGRCh37
Build 365135,426,821 - 135,427,035RGDNCBI36
Celera5131,523,652 - 131,523,866RGD
Cytogenetic Map5q31UniSTS
HuRef5130,587,370 - 130,587,584UniSTS
G54047  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,399,377 - 135,399,478UniSTSGRCh37
Build 365135,427,276 - 135,427,377RGDNCBI36
Celera5131,524,107 - 131,524,208RGD
Cytogenetic Map5q31UniSTS
HuRef5130,587,825 - 130,587,926UniSTS
G60167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,384,303 - 135,384,648UniSTSGRCh37
Build 365135,412,202 - 135,412,547RGDNCBI36
Celera5131,509,035 - 131,509,380RGD
Cytogenetic Map5q31UniSTS
HuRef5130,572,753 - 130,573,098UniSTS
TNG Radiation Hybrid Map562344.0UniSTS
bac5130T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375135,374,696 - 135,374,840UniSTSGRCh37
Build 365135,402,595 - 135,402,739RGDNCBI36
Celera5131,499,428 - 131,499,572RGD
Cytogenetic Map5q31UniSTS
HuRef5130,563,146 - 130,563,290UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2244 4946 1721 2335 5 622 1815 465 2268 7164 6333 43 3703 850 1737 1600 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY149344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA051240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ368821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ368823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M77349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000442011   ⟹   ENSP00000416330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,028,988 - 136,063,818 (+)Ensembl
Ensembl Acc Id: ENST00000503087   ⟹   ENSP00000427137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,059,186 - 136,063,372 (+)Ensembl
Ensembl Acc Id: ENST00000504185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,028,988 - 136,046,440 (+)Ensembl
Ensembl Acc Id: ENST00000504411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,061,190 - 136,063,803 (+)Ensembl
Ensembl Acc Id: ENST00000506699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,028,991 - 136,063,816 (+)Ensembl
Ensembl Acc Id: ENST00000507018   ⟹   ENSP00000421540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,029,139 - 136,063,665 (+)Ensembl
Ensembl Acc Id: ENST00000508076   ⟹   ENSP00000423935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,058,849 - 136,063,815 (+)Ensembl
Ensembl Acc Id: ENST00000508767   ⟹   ENSP00000423871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,047,324 - 136,054,818 (+)Ensembl
Ensembl Acc Id: ENST00000509485   ⟹   ENSP00000426589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,053,943 - 136,059,145 (+)Ensembl
Ensembl Acc Id: ENST00000509749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,047,353 - 136,049,807 (+)Ensembl
Ensembl Acc Id: ENST00000513497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,058,767 - 136,061,536 (+)Ensembl
Ensembl Acc Id: ENST00000514242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,055,499 - 136,059,214 (+)Ensembl
Ensembl Acc Id: ENST00000514554   ⟹   ENSP00000421440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,049,516 - 136,063,818 (+)Ensembl
Ensembl Acc Id: ENST00000515433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,045,745 - 136,055,189 (+)Ensembl
Ensembl Acc Id: ENST00000604555   ⟹   ENSP00000474155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5136,047,418 - 136,055,392 (+)Ensembl
RefSeq Acc Id: NM_000358   ⟹   NP_000349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385136,028,988 - 136,063,818 (+)NCBI
GRCh375135,364,584 - 135,399,507 (+)ENTREZGENE
Build 365135,392,597 - 135,427,406 (+)NCBI Archive
HuRef5130,553,034 - 130,587,955 (+)ENTREZGENE
CHM1_15134,797,217 - 134,832,140 (+)NCBI
T2T-CHM13v2.05136,551,486 - 136,586,315 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000349 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA61163 (Get FASTA)   NCBI Sequence Viewer  
  AAB88695 (Get FASTA)   NCBI Sequence Viewer  
  AAB88696 (Get FASTA)   NCBI Sequence Viewer  
  AAB88697 (Get FASTA)   NCBI Sequence Viewer  
  AAB88698 (Get FASTA)   NCBI Sequence Viewer  
  AAC08449 (Get FASTA)   NCBI Sequence Viewer  
  AAC24944 (Get FASTA)   NCBI Sequence Viewer  
  AAH00097 (Get FASTA)   NCBI Sequence Viewer  
  AAH04972 (Get FASTA)   NCBI Sequence Viewer  
  AAN10294 (Get FASTA)   NCBI Sequence Viewer  
  AAP88822 (Get FASTA)   NCBI Sequence Viewer  
  ACT75673 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33815 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33816 (Get FASTA)   NCBI Sequence Viewer  
  BAD92835 (Get FASTA)   NCBI Sequence Viewer  
  BAD96553 (Get FASTA)   NCBI Sequence Viewer  
  BAG52785 (Get FASTA)   NCBI Sequence Viewer  
  BAG52805 (Get FASTA)   NCBI Sequence Viewer  
  BAG52893 (Get FASTA)   NCBI Sequence Viewer  
  BAG60787 (Get FASTA)   NCBI Sequence Viewer  
  BAH14005 (Get FASTA)   NCBI Sequence Viewer  
  EAW62198 (Get FASTA)   NCBI Sequence Viewer  
  EAW62199 (Get FASTA)   NCBI Sequence Viewer  
  EAW62200 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000416330
  ENSP00000416330.2
  ENSP00000421440.1
  ENSP00000421540.1
  ENSP00000423871.1
  ENSP00000423935.1
  ENSP00000426589.1
  ENSP00000427137.1
  ENSP00000474155.1
GenBank Protein Q15582 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000349   ⟸   NM_000358
- Peptide Label: precursor
- UniProtKB: O43219 (UniProtKB/Swiss-Prot),   O43218 (UniProtKB/Swiss-Prot),   O43217 (UniProtKB/Swiss-Prot),   O43216 (UniProtKB/Swiss-Prot),   O14476 (UniProtKB/Swiss-Prot),   O14472 (UniProtKB/Swiss-Prot),   O14471 (UniProtKB/Swiss-Prot),   D3DQB1 (UniProtKB/Swiss-Prot),   Q53XM1 (UniProtKB/Swiss-Prot),   Q15582 (UniProtKB/Swiss-Prot),   A0A0S2Z4Q2 (UniProtKB/TrEMBL),   Q53GU8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000427137   ⟸   ENST00000503087
Ensembl Acc Id: ENSP00000421540   ⟸   ENST00000507018
Ensembl Acc Id: ENSP00000423935   ⟸   ENST00000508076
Ensembl Acc Id: ENSP00000423871   ⟸   ENST00000508767
Ensembl Acc Id: ENSP00000426589   ⟸   ENST00000509485
Ensembl Acc Id: ENSP00000416330   ⟸   ENST00000442011
Ensembl Acc Id: ENSP00000474155   ⟸   ENST00000604555
Ensembl Acc Id: ENSP00000421440   ⟸   ENST00000514554
Protein Domains
EMI   FAS1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15582-F1-model_v2 AlphaFold Q15582 1-683 view protein structure

Promoters
RGD ID:6803597
Promoter ID:HG_KWN:51158
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:ENST00000305126,   NM_000358,   UC003LBG.2,   UC003LBH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 365135,392,374 - 135,392,874 (+)MPROMDB
RGD ID:6850484
Promoter ID:EP73033
Type:multiple initiation site
Name:HS_TGFBI
Description:Transforming growth factor, beta-induced, 68kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 365135,392,579 - 135,392,639EPD
RGD ID:6870658
Promoter ID:EPDNEW_H8494
Type:initiation region
Name:TGFBI_1
Description:transforming growth factor beta induced
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385136,028,988 - 136,029,048EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11771 AgrOrtholog
COSMIC TGFBI COSMIC
Ensembl Genes ENSG00000120708 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000442011 ENTREZGENE
  ENST00000442011.7 UniProtKB/Swiss-Prot
  ENST00000503087.1 UniProtKB/TrEMBL
  ENST00000507018.5 UniProtKB/TrEMBL
  ENST00000508076.5 UniProtKB/TrEMBL
  ENST00000508767.5 UniProtKB/TrEMBL
  ENST00000509485.5 UniProtKB/TrEMBL
  ENST00000514554.5 UniProtKB/TrEMBL
  ENST00000604555.5 UniProtKB/TrEMBL
Gene3D-CATH 2.30.180.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120708 GTEx
HGNC ID HGNC:11771 ENTREZGENE
Human Proteome Map TGFBI Human Proteome Map
InterPro Adhesion/Biosynth-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMI_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFBI/POSTN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7045 ENTREZGENE
OMIM 601692 OMIM
PANTHER FI19380P1 UniProtKB/TrEMBL
  PERIOSTIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10900:SF82 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fasciclin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36484 PharmGKB
PIRSF BIGH3_OSF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EMI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82153 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z4K6_HUMAN UniProtKB/TrEMBL
  A0A0S2Z4Q2 ENTREZGENE, UniProtKB/TrEMBL
  BGH3_HUMAN UniProtKB/Swiss-Prot
  C7FFS5_HUMAN UniProtKB/TrEMBL
  D3DQB1 ENTREZGENE
  D6RBX4_HUMAN UniProtKB/TrEMBL
  H0Y8L3_HUMAN UniProtKB/TrEMBL
  H0Y8M8_HUMAN UniProtKB/TrEMBL
  H0Y9D7_HUMAN UniProtKB/TrEMBL
  H0YAB8_HUMAN UniProtKB/TrEMBL
  H0YAH8_HUMAN UniProtKB/TrEMBL
  O14471 ENTREZGENE
  O14472 ENTREZGENE
  O14476 ENTREZGENE
  O43216 ENTREZGENE
  O43217 ENTREZGENE
  O43218 ENTREZGENE
  O43219 ENTREZGENE
  Q15582 ENTREZGENE
  Q53GU8 ENTREZGENE, UniProtKB/TrEMBL
  Q53XM1 ENTREZGENE
  S4R3C6_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DQB1 UniProtKB/Swiss-Prot
  O14471 UniProtKB/Swiss-Prot
  O14472 UniProtKB/Swiss-Prot
  O14476 UniProtKB/Swiss-Prot
  O43216 UniProtKB/Swiss-Prot
  O43217 UniProtKB/Swiss-Prot
  O43218 UniProtKB/Swiss-Prot
  O43219 UniProtKB/Swiss-Prot
  Q53XM1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TGFBI  transforming growth factor beta induced  TGFBI  transforming growth factor, beta-induced, 68kDa  Symbol and/or name change 5135510 APPROVED