TRPC6 (transient receptor potential cation channel subfamily C member 6) - Rat Genome Database

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Gene: TRPC6 (transient receptor potential cation channel subfamily C member 6) Homo sapiens
Analyze
Symbol: TRPC6
Name: transient receptor potential cation channel subfamily C member 6
RGD ID: 1347433
HGNC Page HGNC
Description: Enables cation channel activity; inositol 1,4,5 trisphosphate binding activity; and protein homodimerization activity. Acts upstream of or within positive regulation of calcium ion transport and positive regulation of ion transmembrane transporter activity. Located in cytoplasm and plasma membrane. Implicated in chronic fatigue syndrome; focal segmental glomerulosclerosis; focal segmental glomerulosclerosis 2; and nephrotic syndrome type 2. Biomarker of pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ11098; FLJ14863; focal segmental glomerulosclerosis 2; FSGS2; short transient receptor potential channel 6; transient receptor potential cation channel, subfamily C, member 6; transient receptor protein 6; TRP-6; TRP6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TRPC6P1   TRPC6P2   TRPC6P3   TRPC6P4   TRPC6P6  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11101,451,564 - 101,872,562 (-)EnsemblGRCh38hg38GRCh38
GRCh3811101,451,470 - 101,584,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711101,322,295 - 101,454,738 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611100,827,584 - 100,959,869 (-)NCBINCBI36hg18NCBI36
Build 3411100,827,582 - 100,959,869NCBI
Celera1198,491,501 - 98,623,915 (-)NCBI
Cytogenetic Map11q22.1NCBI
HuRef1197,256,362 - 97,388,472 (-)NCBIHuRef
CHM1_111101,205,451 - 101,337,498 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-conocarpan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-bromo-3',5'-cyclic GMP  (EXP,ISO)
acetylcholine  (ISO)
aflatoxin B1  (EXP)
alpha-Zearalanol  (EXP,ISO)
amiloride  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
caesium atom  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbachol  (ISO)
cefaloridine  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
Cuprizon  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dibenziodolium  (EXP,ISO)
dibutyl phthalate  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
fasudil  (EXP,ISO)
flavonoids  (ISO)
flufenamic acid  (EXP,ISO)
furan  (ISO)
gadolinium atom  (ISO)
GDP-beta-S  (ISO)
geldanamycin  (EXP)
guanosine 5'-[gamma-thio]triphosphate  (ISO)
hydrogen peroxide  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
KT 5823  (EXP,ISO)
lanthanum atom  (ISO)
lead diacetate  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
ML-7  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
ouabain  (ISO)
oxaliplatin  (ISO)
panobinostat  (EXP)
phenylephrine  (ISO)
pirinixic acid  (EXP)
potassium atom  (ISO)
progesterone  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
rubidium atom  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
salvianolic acid B  (ISO)
SB 431542  (EXP)
sildenafil citrate  (ISO)
SKF-96365 hydrochloride  (ISO)
sodium arsenite  (EXP)
sodium atom  (ISO)
strontium atom  (ISO)
sulforaphane  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
U-73122  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
Y-27632  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Alessandri-Haber N, etal., J Neurosci. 2009 May 13;29(19):6217-28. doi: 10.1523/JNEUROSCI.0893-09.2009.
2. Du W, etal., J Clin Invest. 2010 Oct;120(10):3480-92. doi: 10.1172/JCI43165. Epub 2010 Sep 1.
3. GOA_HUMAN data from the GO Consortium
4. Li H, etal., J Neurochem. 2012 Dec;123(6):1010-8. doi: 10.1111/jnc.12045. Epub 2012 Nov 1.
5. Lin Y, etal., J Mol Neurosci. 2013 Jul;50(3):504-13. doi: 10.1007/s12031-013-9977-8. Epub 2013 Feb 23.
6. Liu X, etal., J Thorac Cardiovasc Surg. 2013 Mar 24. pii: S0022-5223(13)00274-2. doi: 10.1016/j.jtcvs.2013.02.076.
7. Liu Y, etal., Am J Nephrol. 2010;31(1):36-44. doi: 10.1159/000254060. Epub 2009 Oct 30.
8. Luan J, etal., J Pharmacol Sci. 2012;119(2):167-76. Epub 2012 May 22.
9. Marshall-Gradisnik S, etal., J Int Med Res. 2016 Dec;44(6):1381-1394. doi: 10.1177/0300060516671622. Epub 2016 Nov 11.
10. Mir S, etal., Nephrol Dial Transplant. 2012 Jan;27(1):205-9. doi: 10.1093/ndt/gfr202. Epub 2011 Apr 21.
11. Mita M, etal., Clin Exp Pharmacol Physiol. 2010 Jul;37(7):670-8. doi: 10.1111/j.1440-1681.2010.05373.x. Epub 2010 Mar 12.
12. Nijenhuis T, etal., Am J Pathol. 2011 Oct;179(4):1719-32. doi: 10.1016/j.ajpath.2011.06.033. Epub 2011 Aug 11.
13. Obeidova L, etal., Folia Biol (Praha). 2012;58(4):173-6.
14. OMIM Disease Annotation Pipeline
15. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16. Reiser J, etal., Nat Genet. 2005 Jul;37(7):739-44. Epub 2005 May 27.
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Sonneveld R, etal., Am J Pathol. 2013 Apr;182(4):1196-204. doi: 10.1016/j.ajpath.2012.12.011. Epub 2013 Feb 4.
21. Spires D, etal., Am J Physiol Renal Physiol. 2018 Oct 1;315(4):F1091-F1097. doi: 10.1152/ajprenal.00155.2018. Epub 2018 Jun 20.
22. Wang X, etal., Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5751-8. Epub 2010 Jun 16.
23. Winn MP, etal., Science. 2005 Jun 17;308(5729):1801-4. Epub 2005 May 5.
24. Xie J, etal., Nat Commun. 2012;3:1238. doi: 10.1038/ncomms2240.
25. Yu Y, etal., Proc Natl Acad Sci U S A. 2004 Sep 21;101(38):13861-6. Epub 2004 Sep 9.
Additional References at PubMed
PMID:9925922   PMID:9930701   PMID:10368108   PMID:10611319   PMID:10816590   PMID:10998353   PMID:11290752   PMID:11988098   PMID:12032305   PMID:12351388   PMID:12356946   PMID:12377790  
PMID:12477932   PMID:12531519   PMID:12564954   PMID:12736151   PMID:12765698   PMID:12766233   PMID:12857742   PMID:12871853   PMID:12970363   PMID:14505576   PMID:14662757   PMID:14688372  
PMID:14699131   PMID:14702039   PMID:14761972   PMID:15023993   PMID:15199065   PMID:15362854   PMID:15489334   PMID:15623527   PMID:15757897   PMID:15998650   PMID:16025302   PMID:16034470  
PMID:16382100   PMID:16439426   PMID:16527499   PMID:16690880   PMID:17081983   PMID:17116414   PMID:17197445   PMID:17217054   PMID:17317623   PMID:17360584   PMID:17684020   PMID:17699555  
PMID:17719101   PMID:17850865   PMID:17872462   PMID:17957383   PMID:18209485   PMID:18258814   PMID:18436303   PMID:18495872   PMID:18506892   PMID:18617565   PMID:18784209   PMID:18800249  
PMID:18818211   PMID:19052171   PMID:19074769   PMID:19124028   PMID:19129465   PMID:19260825   PMID:19380626   PMID:19394138   PMID:19414653   PMID:19443836   PMID:19458060   PMID:19610066  
PMID:19701218   PMID:19701773   PMID:19749484   PMID:19843708   PMID:19936226   PMID:19940041   PMID:19961855   PMID:20028870   PMID:20190513   PMID:20203293   PMID:20306291   PMID:20346360  
PMID:20346379   PMID:20395377   PMID:20533864   PMID:20540633   PMID:20554944   PMID:20705603   PMID:20728215   PMID:20835261   PMID:20961851   PMID:21471003   PMID:21487005   PMID:21525431  
PMID:21734084   PMID:21757000   PMID:21757714   PMID:21799177   PMID:21822655   PMID:21864503   PMID:21873635   PMID:21980113   PMID:22000711   PMID:22004559   PMID:22306362   PMID:22493444  
PMID:22554521   PMID:22566504   PMID:23158989   PMID:23171048   PMID:23291369   PMID:23497198   PMID:23525112   PMID:23566105   PMID:23570668   PMID:23636057   PMID:23645677   PMID:23663351  
PMID:23671622   PMID:23686700   PMID:23689571   PMID:23700295   PMID:23814119   PMID:23938296   PMID:23976973   PMID:23999069   PMID:24397990   PMID:24418082   PMID:24453217   PMID:24470487  
PMID:24598806   PMID:24905090   PMID:24942878   PMID:25019165   PMID:25213992   PMID:25231870   PMID:25385366   PMID:25521631   PMID:25601712   PMID:25603901   PMID:25824146   PMID:25896763  
PMID:26127002   PMID:26147534   PMID:26187851   PMID:26239116   PMID:26348127   PMID:26386308   PMID:26392222   PMID:26404773   PMID:26531690   PMID:26581893   PMID:26604306   PMID:26849622  
PMID:26858457   PMID:26892346   PMID:26913924   PMID:26937558   PMID:26968768   PMID:27011063   PMID:27506849   PMID:27818466   PMID:27874267   PMID:28030826   PMID:28210627   PMID:28629718  
PMID:28696436   PMID:28790356   PMID:28877958   PMID:29288897   PMID:29700422   PMID:29968164   PMID:29987050   PMID:30078002   PMID:30216703   PMID:30282964   PMID:30321616   PMID:30380548  
PMID:30384327   PMID:30476735   PMID:30595563   PMID:30684527   PMID:30782481   PMID:30953689   PMID:31022353   PMID:31054997   PMID:31063704   PMID:31115705   PMID:31266804   PMID:31266820  
PMID:31529341   PMID:32088241   PMID:32097940   PMID:32134975   PMID:32612035   PMID:32794568   PMID:32800850   PMID:32822726   PMID:32985219   PMID:33333171   PMID:33380424   PMID:33450580  
PMID:33657698  


Genomics

Comparative Map Data
TRPC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11101,451,564 - 101,872,562 (-)EnsemblGRCh38hg38GRCh38
GRCh3811101,451,470 - 101,584,007 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711101,322,295 - 101,454,738 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611100,827,584 - 100,959,869 (-)NCBINCBI36hg18NCBI36
Build 3411100,827,582 - 100,959,869NCBI
Celera1198,491,501 - 98,623,915 (-)NCBI
Cytogenetic Map11q22.1NCBI
HuRef1197,256,362 - 97,388,472 (-)NCBIHuRef
CHM1_111101,205,451 - 101,337,498 (-)NCBICHM1_1
Trpc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3998,543,868 - 8,680,753 (+)NCBIGRCm39mm39
GRCm39 Ensembl98,544,143 - 8,680,742 (+)Ensembl
GRCm3898,543,867 - 8,680,752 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl98,544,142 - 8,680,741 (+)EnsemblGRCm38mm10GRCm38
MGSCv3798,544,142 - 8,680,741 (+)NCBIGRCm37mm9NCBIm37
MGSCv3698,544,711 - 8,642,583 (+)NCBImm8
Celera95,924,518 - 6,060,945 (+)NCBICelera
Cytogenetic Map9A1NCBI
cM Map92.46NCBI
Trpc6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.285,759,387 - 5,864,000 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl85,758,935 - 5,828,092 (+)Ensembl
Rnor_6.086,811,543 - 6,917,534 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl86,811,543 - 6,917,535 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.086,799,564 - 6,904,623 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.485,472,515 - 5,577,537 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.185,472,514 - 5,577,536 (+)NCBI
Celera87,300,179 - 7,404,007 (+)NCBICelera
Cytogenetic Map8q11NCBI
Trpc6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554124,906,650 - 4,950,525 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554124,905,039 - 5,019,678 (-)NCBIChiLan1.0ChiLan1.0
TRPC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11199,918,382 - 100,051,110 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1199,919,410 - 100,050,685 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01196,414,498 - 96,551,670 (-)NCBIMhudiblu_PPA_v0panPan3
TRPC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1529,897,378 - 30,007,885 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl529,897,210 - 30,007,723 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha529,849,049 - 29,959,895 (+)NCBI
ROS_Cfam_1.0529,962,647 - 30,073,659 (+)NCBI
UMICH_Zoey_3.1530,016,217 - 30,126,413 (+)NCBI
UNSW_CanFamBas_1.0529,864,510 - 29,975,743 (+)NCBI
UU_Cfam_GSD_1.0530,042,168 - 30,153,079 (+)NCBI
Trpc6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494785,253,510 - 85,362,868 (-)NCBI
SpeTri2.0NW_0049365516,173,588 - 6,282,971 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl932,332,769 - 32,439,184 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1932,332,768 - 32,439,184 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2936,257,623 - 36,364,097 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPC6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1192,828,546 - 92,970,224 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl192,829,253 - 92,885,086 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604332,920,602 - 33,049,610 (+)NCBIVero_WHO_p1.0
Trpc6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248781,321,022 - 1,469,964 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S2002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371179,965,403 - 79,965,640UniSTSGRCh37
Build 361179,643,051 - 79,643,288RGDNCBI36
Celera1177,274,478 - 77,274,708RGD
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map11q14-q21UniSTS
Cytogenetic Map11q14UniSTS
HuRef1176,261,943 - 76,262,172UniSTS
Marshfield Genetic Map1185.48UniSTS
Marshfield Genetic Map1185.48RGD
deCODE Assembly Map1187.25UniSTS
Stanford-G3 RH Map113517.0UniSTS
Whitehead-RH Map11383.4UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map11649.2UniSTS
D11S1986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711111,223,605 - 111,223,840UniSTSGRCh37
Build 3611110,728,815 - 110,729,050RGDNCBI36
Celera11108,376,791 - 108,377,026RGD
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Marshfield Genetic Map11105.74RGD
Marshfield Genetic Map11105.74UniSTS
Whitehead-RH Map11512.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
SHGC-57985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711101,322,801 - 101,323,062UniSTSGRCh37
Build 3611100,828,011 - 100,828,272RGDNCBI36
Celera1198,492,007 - 98,492,272RGD
Cytogenetic Map11q22.1UniSTS
HuRef1197,256,868 - 97,257,133UniSTS
TNG Radiation Hybrid Map1146888.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1469
Count of miRNA genes:811
Interacting mature miRNAs:929
Transcripts:ENST00000344327, ENST00000348423, ENST00000360497, ENST00000526713, ENST00000527240, ENST00000532133, ENST00000532184
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 566 4 414 8 165 557 1 17 35 946 161 8 1
Low 1687 1472 509 209 532 83 3384 515 2344 301 1241 472 126 1043 2064 3
Below cutoff 78 1447 734 354 794 319 747 1094 1302 65 117 50 40 716

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF080394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ271068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344327   ⟹   ENSP00000340913
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,451,564 - 101,584,007 (-)Ensembl
RefSeq Acc Id: ENST00000348423   ⟹   ENSP00000343672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,452,955 - 101,583,503 (-)Ensembl
RefSeq Acc Id: ENST00000360497   ⟹   ENSP00000353687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,452,955 - 101,583,503 (-)Ensembl
RefSeq Acc Id: ENST00000526713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,504,705 - 101,872,562 (-)Ensembl
RefSeq Acc Id: ENST00000527240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,491,381 - 101,504,090 (-)Ensembl
RefSeq Acc Id: ENST00000532133   ⟹   ENSP00000435574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,452,872 - 101,583,506 (-)Ensembl
RefSeq Acc Id: ENST00000532184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11101,453,641 - 101,455,577 (-)Ensembl
RefSeq Acc Id: NM_004621   ⟹   NP_004612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,451,564 - 101,584,007 (-)NCBI
GRCh3711101,322,295 - 101,454,687 (-)NCBI
Build 3611100,827,584 - 100,959,869 (-)NCBI Archive
HuRef1197,256,362 - 97,388,472 (-)ENTREZGENE
CHM1_111101,205,451 - 101,337,498 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011542968   ⟹   XP_011541270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,451,470 - 101,510,888 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018221   ⟹   XP_016873710
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,451,470 - 101,583,859 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001747948
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,451,564 - 101,583,859 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004612   ⟸   NM_004621
- UniProtKB: Q9Y210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011541270   ⟸   XM_011542968
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016873710   ⟸   XM_017018221
- Peptide Label: isoform X2
- UniProtKB: Q9Y210 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000343672   ⟸   ENST00000348423
RefSeq Acc Id: ENSP00000353687   ⟸   ENST00000360497
RefSeq Acc Id: ENSP00000435574   ⟸   ENST00000532133
RefSeq Acc Id: ENSP00000340913   ⟸   ENST00000344327
Protein Domains
ANK_REP_REGION

Promoters
RGD ID:7221885
Promoter ID:EPDNEW_H16689
Type:initiation region
Name:TRPC6_2
Description:transient receptor potential cation channel subfamily C member6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16690  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,583,467 - 101,583,527EPDNEW
RGD ID:7221891
Promoter ID:EPDNEW_H16690
Type:initiation region
Name:TRPC6_1
Description:transient receptor potential cation channel subfamily C member6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811101,584,007 - 101,584,067EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004621.6(TRPC6):c.1294-4G>A single nucleotide variant not provided [RCV001398816]|not specified [RCV000517947] Chr11:101483169 [GRCh38]
Chr11:101353900 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.335C>A (p.Pro112Gln) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006526] Chr11:101504634 [GRCh38]
Chr11:101375365 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006527]|not provided [RCV000782220] Chr11:101504541 [GRCh38]
Chr11:101375272 [GRCh37]
Chr11:11q22.1
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_004621.6(TRPC6):c.808T>A (p.Ser270Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006528] Chr11:101504161 [GRCh38]
Chr11:101374892 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006529] Chr11:101453674 [GRCh38]
Chr11:101324405 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006530]|Nephrotic syndrome [RCV001328174]|not provided [RCV000681872] Chr11:101453068 [GRCh38]
Chr11:101323799 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000006531]|not provided [RCV000681807] Chr11:101453062 [GRCh38]
Chr11:101323793 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.1549G>A (p.Gly517Ser) single nucleotide variant not provided [RCV000722665] Chr11:101476496 [GRCh38]
Chr11:101347227 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1478G>C (p.Trp493Ser) single nucleotide variant not provided [RCV000722659] Chr11:101482981 [GRCh38]
Chr11:101353712 [GRCh37]
Chr11:11q22.1
uncertain significance
GRCh38/hg38 11q22.1(chr11:101139357-101615307)x3 copy number gain See cases [RCV000051932] Chr11:101139357..101615307 [GRCh38]
Chr11:101010088..101486038 [GRCh37]
Chr11:100515298..100991248 [NCBI36]
Chr11:11q22.1
uncertain significance
GRCh38/hg38 11q22.1(chr11:101580685-101907935)x3 copy number gain See cases [RCV000051933] Chr11:101580685..101907935 [GRCh38]
Chr11:101451416..101778666 [GRCh37]
Chr11:100956626..101283876 [NCBI36]
Chr11:11q22.1
uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
NM_004621.5(TRPC6):c.2656G>A (p.Glu886Lys) single nucleotide variant Malignant melanoma [RCV000069129] Chr11:101453095 [GRCh38]
Chr11:101323826 [GRCh37]
Chr11:100829036 [NCBI36]
Chr11:11q22.1
not provided
NM_004621.5(TRPC6):c.604C>A (p.Gln202Lys) single nucleotide variant Malignant melanoma [RCV000069130] Chr11:101504365 [GRCh38]
Chr11:101375096 [GRCh37]
Chr11:100880306 [NCBI36]
Chr11:11q22.1
not provided
NM_004621.5(TRPC6):c.2441G>A (p.Gly814Glu) single nucleotide variant Malignant melanoma [RCV000062112] Chr11:101469470 [GRCh38]
Chr11:101340201 [GRCh37]
Chr11:100845411 [NCBI36]
Chr11:11q22.1
not provided
NM_004621.5(TRPC6):c.353T>A (p.Leu118Ter) single nucleotide variant Malignant melanoma [RCV000062113] Chr11:101504616 [GRCh38]
Chr11:101375347 [GRCh37]
Chr11:100880557 [NCBI36]
Chr11:11q22.1
not provided
NC_000011.9:g.101344304_101344546del243 copy number loss Focal segmental glomerulosclerosis 2 [RCV000234888] Chr11:101344304..101344546 [GRCh37] pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_004621.6(TRPC6):c.1293+212dup duplication not provided [RCV001572570] Chr11:101488717..101488718 [GRCh38]
Chr11:101359448..101359449 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.304T>A (p.Phe102Ile) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000256402] Chr11:101504665 [GRCh38]
Chr11:101375396 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.5G>C (p.Ser2Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000256381] Chr11:101583499 [GRCh38]
Chr11:101454230 [GRCh37]
Chr11:11q22.1
uncertain significance
GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1 copy number loss See cases [RCV000136574] Chr11:98357901..106059146 [GRCh38]
Chr11:98228629..105929873 [GRCh37]
Chr11:97733839..105435083 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3 copy number gain See cases [RCV000136846] Chr11:101452984..104044105 [GRCh38]
Chr11:101323715..103914833 [GRCh37]
Chr11:100828925..103420043 [NCBI36]
Chr11:11q22.1-22.3
pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001336716]|Nephrotic syndrome [RCV000208455]|not provided [RCV000713890] Chr11:101504446 [GRCh38]
Chr11:101375177 [GRCh37]
Chr11:11q22.1
pathogenic|uncertain significance
NM_004621.6(TRPC6):c.2644+29C>T single nucleotide variant Prednisolone response [RCV000225006] Chr11:101453621 [GRCh38]
Chr11:101324352 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.*86C>T single nucleotide variant Prednisolone response [RCV000225008] Chr11:101452869 [GRCh38]
Chr11:101323600 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1293+48T>C single nucleotide variant Prednisolone response [RCV000225010] Chr11:101488889 [GRCh38]
Chr11:101359620 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1294-23T>A single nucleotide variant Prednisolone response [RCV000225011] Chr11:101483188 [GRCh38]
Chr11:101353919 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.455T>C (p.Leu152Pro) single nucleotide variant Prednisolone response [RCV000225016] Chr11:101504514 [GRCh38]
Chr11:101375245 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.945+175A>T single nucleotide variant Prednisolone response [RCV000225018] Chr11:101503849 [GRCh38]
Chr11:101374580 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2022T>C (p.Ser674=) single nucleotide variant Prednisolone response [RCV000225021] Chr11:101472320 [GRCh38]
Chr11:101343051 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.2435T>C (p.Ile812Thr) single nucleotide variant Prednisolone response [RCV000225025] Chr11:101469476 [GRCh38]
Chr11:101340207 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.171-69T>C single nucleotide variant Prednisolone response [RCV000225027] Chr11:101504867 [GRCh38]
Chr11:101375598 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2485-44A>G single nucleotide variant Prednisolone response [RCV000225029] Chr11:101455145 [GRCh38]
Chr11:101325876 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1510+24T>C single nucleotide variant Prednisolone response [RCV000225030] Chr11:101482925 [GRCh38]
Chr11:101353656 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.1766C>G (p.Ser589Cys) single nucleotide variant Prednisolone response [RCV000225032] Chr11:101473752 [GRCh38]
Chr11:101344483 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.2485-14T>C single nucleotide variant Prednisolone response [RCV000225085] Chr11:101455115 [GRCh38]
Chr11:101325846 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.539T>C (p.Ile180Thr) single nucleotide variant Prednisolone response [RCV000225086] Chr11:101504430 [GRCh38]
Chr11:101375161 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2644+78G>T single nucleotide variant Prednisolone response [RCV000225088] Chr11:101453572 [GRCh38]
Chr11:101324303 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2010-67A>T single nucleotide variant Prednisolone response [RCV000225090] Chr11:101472399 [GRCh38]
Chr11:101343130 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.171-68G>A single nucleotide variant Prednisolone response [RCV000225098] Chr11:101504866 [GRCh38]
Chr11:101375597 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1533A>G (p.Lys511=) single nucleotide variant Prednisolone response [RCV000225100] Chr11:101476512 [GRCh38]
Chr11:101347243 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2455C>T (p.Leu819Phe) single nucleotide variant Prednisolone response [RCV000225084] Chr11:101469456 [GRCh38]
Chr11:101340187 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.946-8T>C single nucleotide variant Prednisolone response [RCV000225078] Chr11:101491746 [GRCh38]
Chr11:101362477 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1745-50T>A single nucleotide variant Prednisolone response [RCV000225072] Chr11:101473823 [GRCh38]
Chr11:101344554 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1440A>G (p.Ala480=) single nucleotide variant Prednisolone response [RCV000225067] Chr11:101483019 [GRCh38]
Chr11:101353750 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1293+54G>T single nucleotide variant Prednisolone response [RCV000225065] Chr11:101488883 [GRCh38]
Chr11:101359614 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.2010-31T>C single nucleotide variant Prednisolone response [RCV000225061] Chr11:101472363 [GRCh38]
Chr11:101343094 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.419C>A (p.Ala140Glu) single nucleotide variant Prednisolone response [RCV000225058] Chr11:101504550 [GRCh38]
Chr11:101375281 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2460A>G (p.Ser820=) single nucleotide variant Prednisolone response [RCV000225057] Chr11:101469451 [GRCh38]
Chr11:101340182 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2410-22T>C single nucleotide variant Prednisolone response [RCV000225054] Chr11:101469523 [GRCh38]
Chr11:101340254 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.1294-53T>C single nucleotide variant Prednisolone response [RCV000225052] Chr11:101483218 [GRCh38]
Chr11:101353949 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1293+45T>C single nucleotide variant Prednisolone response [RCV000225049] Chr11:101488892 [GRCh38]
Chr11:101359623 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.2645-8T>C single nucleotide variant Prednisolone response [RCV000225047] Chr11:101453114 [GRCh38]
Chr11:101323845 [GRCh37]
Chr11:11q22.1
pathogenic|drug response
NM_004621.6(TRPC6):c.945+174C>T single nucleotide variant Prednisolone response [RCV000225046] Chr11:101503850 [GRCh38]
Chr11:101374581 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2644+27C>G single nucleotide variant Prednisolone response [RCV000225044] Chr11:101453623 [GRCh38]
Chr11:101324354 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000290336]|Prednisolone response [RCV000225092]|not provided [RCV000879659]|not specified [RCV000245304] Chr11:101472200 [GRCh38]
Chr11:101342931 [GRCh37]
Chr11:11q22.1
pathogenic|benign|likely benign|drug response
GRCh37/hg19 11q22.1(chr11:101450649-102064511)x3 copy number gain See cases [RCV000239979] Chr11:101450649..102064511 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2142G>A (p.Thr714=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000328830]|not provided [RCV000881512]|not specified [RCV000253695] Chr11:101472200 [GRCh38]
Chr11:101342931 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.171-20A>G single nucleotide variant not provided [RCV001515517]|not specified [RCV000253773] Chr11:101504818 [GRCh38]
Chr11:101375549 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.888G>A (p.Thr296=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106232]|not provided [RCV001459545]|not specified [RCV000241654] Chr11:101504081 [GRCh38]
Chr11:101374812 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.2645-22_2645-20del microsatellite not provided [RCV001511843]|not specified [RCV000241771] Chr11:101453126..101453128 [GRCh38]
Chr11:101323857..101323859 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000305928]|not provided [RCV000576299]|not specified [RCV000244238] Chr11:101489019 [GRCh38]
Chr11:101359750 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000321852]|not provided [RCV000713889]|not specified [RCV000246750] Chr11:101453039 [GRCh38]
Chr11:101323770 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000396608]|not provided [RCV000576570]|not specified [RCV000249219] Chr11:101476362 [GRCh38]
Chr11:101347093 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000576529]|not provided [RCV001518346]|not specified [RCV000249687] Chr11:101583461 [GRCh38]
Chr11:101454192 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000576328]|not provided [RCV001516162]|not specified [RCV000250197] Chr11:101455057 [GRCh38]
Chr11:101325788 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000576702]|not provided [RCV001516163]|not specified [RCV000250352] Chr11:101472227 [GRCh38]
Chr11:101342958 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1818T>C (p.Ser606=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000278457]|not provided [RCV000881513]|not specified [RCV000245814] Chr11:101473700 [GRCh38]
Chr11:101344431 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.1677C>T (p.Asp559=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000302192] Chr11:101476368 [GRCh38]
Chr11:101347099 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*314C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000395046] Chr11:101452641 [GRCh38]
Chr11:101323372 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.-360T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000395855] Chr11:101583863 [GRCh38]
Chr11:101454594 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000285036]|not provided [RCV001653480] Chr11:101583757 [GRCh38]
Chr11:101454488 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1886G>C (p.Arg629Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000396617] Chr11:101473632 [GRCh38]
Chr11:101344363 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*710_*711insTTTA insertion Focal segmental glomerulosclerosis [RCV000285980] Chr11:101452244..101452245 [GRCh38]
Chr11:101322975..101322976 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2508T>C (p.Ser836=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000324923] Chr11:101455078 [GRCh38]
Chr11:101325809 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.739C>T (p.Arg247Trp) single nucleotide variant Focal segmental glomerulosclerosis [RCV000270681] Chr11:101504230 [GRCh38]
Chr11:101374961 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*336C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000350287] Chr11:101452619 [GRCh38]
Chr11:101323350 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*1020G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000374802] Chr11:101451935 [GRCh38]
Chr11:101322666 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*553T>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000289330] Chr11:101452402 [GRCh38]
Chr11:101323133 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.336A>C (p.Pro112=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000328154] Chr11:101504633 [GRCh38]
Chr11:101375364 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.1928T>C (p.Met643Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000350856] Chr11:101473590 [GRCh38]
Chr11:101344321 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*792G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000378177] Chr11:101452163 [GRCh38]
Chr11:101322894 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000331759]|not provided [RCV000888915]|not specified [RCV001288534] Chr11:101504797 [GRCh38]
Chr11:101375528 [GRCh37]
Chr11:11q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004621.6(TRPC6):c.*40T>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000353648] Chr11:101452915 [GRCh38]
Chr11:101323646 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*1380G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000275552] Chr11:101451575 [GRCh38]
Chr11:101322306 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-361A>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000310385]|not provided [RCV001675785] Chr11:101583864 [GRCh38]
Chr11:101454595 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.*575C>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000381622] Chr11:101452380 [GRCh38]
Chr11:101323111 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.213T>A (p.Val71=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000274300] Chr11:101504756 [GRCh38]
Chr11:101375487 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.*33del deletion Focal segmental glomerulosclerosis [RCV000260714] Chr11:101452922 [GRCh38]
Chr11:101323653 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.*337G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000311508] Chr11:101452618 [GRCh38]
Chr11:101323349 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*1349T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000311942] Chr11:101451606 [GRCh38]
Chr11:101322337 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2088C>T (p.Asn696=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000293648]|not provided [RCV000968233]|not specified [RCV001288536] Chr11:101472254 [GRCh38]
Chr11:101342985 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000295724]|not provided [RCV001546367]|not specified [RCV001701997] Chr11:101583513 [GRCh38]
Chr11:101454244 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.1780A>G (p.Ile594Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000337352] Chr11:101473738 [GRCh38]
Chr11:101344469 [GRCh37]
Chr11:11q22.1
benign|uncertain significance
NM_004621.6(TRPC6):c.2574A>C (p.Ile858=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000360292] Chr11:101453720 [GRCh38]
Chr11:101324451 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*1089C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000276869] Chr11:101451866 [GRCh38]
Chr11:101322597 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*970A>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000263788] Chr11:101451985 [GRCh38]
Chr11:101322716 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.-344C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000364260] Chr11:101583847 [GRCh38]
Chr11:101454578 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1338C>T (p.His446=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000390325]|not provided [RCV000965220] Chr11:101483121 [GRCh38]
Chr11:101353852 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*13C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000299515] Chr11:101452942 [GRCh38]
Chr11:101323673 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*1038T>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000317904] Chr11:101451917 [GRCh38]
Chr11:101322648 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000264354] Chr11:101452981 [GRCh38]
Chr11:101323712 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*668G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000343391] Chr11:101452287 [GRCh38]
Chr11:101323018 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.-143C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000281486] Chr11:101583646 [GRCh38]
Chr11:101454377 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*530T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000346676] Chr11:101452425 [GRCh38]
Chr11:101323156 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.-125C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000372602] Chr11:101583628 [GRCh38]
Chr11:101454359 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-343C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000307209] Chr11:101583846 [GRCh38]
Chr11:101454577 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.-243C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000404204] Chr11:101583746 [GRCh38]
Chr11:101454477 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*9C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000356755] Chr11:101452946 [GRCh38]
Chr11:101323677 [GRCh37]
Chr11:11q22.1
benign|likely benign
NM_004621.6(TRPC6):c.*509_*512dup duplication Focal segmental glomerulosclerosis [RCV000395023] Chr11:101452442..101452443 [GRCh38]
Chr11:101323173..101323174 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.1344C>A (p.Ala448=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000359266] Chr11:101483115 [GRCh38]
Chr11:101353846 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.*175A>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000315172] Chr11:101452780 [GRCh38]
Chr11:101323511 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000338897]|not provided [RCV001718610] Chr11:101583721 [GRCh38]
Chr11:101454452 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1057C>T (p.Leu353Phe) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000362864] Chr11:101491627 [GRCh38]
Chr11:101362358 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.830A>G (p.Tyr277Cys) single nucleotide variant not provided [RCV000722258] Chr11:101504139 [GRCh38]
Chr11:101374870 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-35G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000315635] Chr11:101583538 [GRCh38]
Chr11:101454269 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2410-11A>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000382387] Chr11:101469512 [GRCh38]
Chr11:101340243 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-406C>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000367370] Chr11:101583909 [GRCh38]
Chr11:101454640 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*821C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000321304] Chr11:101452134 [GRCh38]
Chr11:101322865 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*1176T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000371332] Chr11:101451779 [GRCh38]
Chr11:101322510 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-317C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000342180] Chr11:101583820 [GRCh38]
Chr11:101454551 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-319del deletion Focal segmental glomerulosclerosis [RCV000395847] Chr11:101583822 [GRCh38]
Chr11:101454553 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.29G>A (p.Arg10Gln) single nucleotide variant not specified [RCV000518522] Chr11:101583475 [GRCh38]
Chr11:101454206 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.769G>A (p.Asp257Asn) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000735698] Chr11:101504200 [GRCh38]
Chr11:101374931 [GRCh37]
Chr11:11q22.1
uncertain significance
GRCh37/hg19 11q22.1(chr11:101397368-101472351) copy number gain Abnormality of esophagus morphology [RCV000416669] Chr11:101397368..101472351 [GRCh37]
Chr11:11q22.1
likely benign
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1 copy number loss See cases [RCV000511844] Chr11:98515900..104970876 [GRCh37]
Chr11:11q22.1-22.3
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000625638] Chr11:101504451 [GRCh38]
Chr11:101375182 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.673C>G (p.Leu225Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000625645] Chr11:101504296 [GRCh38]
Chr11:101375027 [GRCh37]
Chr11:11q22.1
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg) single nucleotide variant not provided [RCV000681829] Chr11:101455052 [GRCh38]
Chr11:101325783 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) single nucleotide variant not provided [RCV000681833] Chr11:101504326 [GRCh38]
Chr11:101375057 [GRCh37]
Chr11:11q22.1
likely pathogenic|uncertain significance
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile) single nucleotide variant not provided [RCV000681839] Chr11:101504703 [GRCh38]
Chr11:101375434 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.434A>G (p.His145Arg) single nucleotide variant not provided [RCV000681865] Chr11:101504535 [GRCh38]
Chr11:101375266 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile) single nucleotide variant not provided [RCV000681922] Chr11:101471308 [GRCh38]
Chr11:101342039 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.1293+6_1293+18del deletion not provided [RCV000713888] Chr11:101488919..101488931 [GRCh38]
Chr11:101359650..101359662 [GRCh37]
Chr11:11q22.1
benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11q22.1(chr11:101311359-101330090)x4 copy number gain not provided [RCV000737650] Chr11:101311359..101330090 [GRCh37]
Chr11:11q22.1
benign
GRCh37/hg19 11q22.1(chr11:101401444-101437288)x3 copy number gain not provided [RCV000737651] Chr11:101401444..101437288 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001708957] Chr11:101469276 [GRCh38]
Chr11:101340007 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001709431] Chr11:101488700 [GRCh38]
Chr11:101359431 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001668051] Chr11:101473968 [GRCh38]
Chr11:101344699 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.364C>T (p.His122Tyr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001029904] Chr11:101504605 [GRCh38]
Chr11:101375336 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.837C>T (p.Gly279=) single nucleotide variant not provided [RCV000899362] Chr11:101504132 [GRCh38]
Chr11:101374863 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.75C>T (p.Arg25=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103275]|not provided [RCV000926174] Chr11:101583429 [GRCh38]
Chr11:101454160 [GRCh37]
Chr11:11q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_004621.6(TRPC6):c.2463A>T (p.Lys821Asn) single nucleotide variant not provided [RCV001047412] Chr11:101469448 [GRCh38]
Chr11:101340179 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2009+1G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000779039] Chr11:101473508 [GRCh38]
Chr11:101344239 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1886_1887insC (p.Arg629fs) insertion Focal segmental glomerulosclerosis 2 [RCV000779040] Chr11:101473631..101473632 [GRCh38]
Chr11:101344362..101344363 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1079G>A (p.Arg360His) single nucleotide variant not provided [RCV000782242] Chr11:101491605 [GRCh38]
Chr11:101362336 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.643C>G (p.Arg215Gly) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000786957] Chr11:101504326 [GRCh38]
Chr11:101375057 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.1747A>G (p.Arg583Gly) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV000786981] Chr11:101473771 [GRCh38]
Chr11:101344502 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.975C>T (p.Cys325=) single nucleotide variant not provided [RCV000920458] Chr11:101491709 [GRCh38]
Chr11:101362440 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.570G>A (p.Lys190=) single nucleotide variant not provided [RCV000919769] Chr11:101504399 [GRCh38]
Chr11:101375130 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.218G>A (p.Arg73His) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001029914] Chr11:101504751 [GRCh38]
Chr11:101375482 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2418A>G (p.Glu806=) single nucleotide variant not provided [RCV000916181] Chr11:101469493 [GRCh38]
Chr11:101340224 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001029872]|not provided [RCV000993356] Chr11:101453073 [GRCh38]
Chr11:101323804 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.273C>A (p.Arg91=) single nucleotide variant not provided [RCV000975420] Chr11:101504696 [GRCh38]
Chr11:101375427 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.*1386C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108277] Chr11:101451569 [GRCh38]
Chr11:101322300 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-244T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001105191] Chr11:101583747 [GRCh38]
Chr11:101454478 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-264C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001105192] Chr11:101583767 [GRCh38]
Chr11:101454498 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*218C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106148] Chr11:101452737 [GRCh38]
Chr11:101323468 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1744+140T>G single nucleotide variant not provided [RCV001577321] Chr11:101476161 [GRCh38]
Chr11:101346892 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.2010-107T>A single nucleotide variant not provided [RCV001551482] Chr11:101472439 [GRCh38]
Chr11:101343170 [GRCh37]
Chr11:11q22.1
likely benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001651667] Chr11:101491986 [GRCh38]
Chr11:101362717 [GRCh37]
Chr11:11q22.1
benign
null deletion not provided [RCV001668745] Chr11:101491434 [GRCh38]
Chr11:101362165 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.945+256_945+258del microsatellite not provided [RCV001557614] Chr11:101503766..101503768 [GRCh38]
Chr11:101374497..101374499 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.946-228C>T single nucleotide variant not provided [RCV001571871] Chr11:101491966 [GRCh38]
Chr11:101362697 [GRCh37]
Chr11:11q22.1
likely benign
null deletion not provided [RCV001669945] Chr11:101489382..101489386 [GRCh38]
Chr11:101360113..101360117 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001609924] Chr11:101503895 [GRCh38]
Chr11:101374626 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1260G>A (p.Leu420=) single nucleotide variant not provided [RCV000899335] Chr11:101488970 [GRCh38]
Chr11:101359701 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.1056G>T (p.Thr352=) single nucleotide variant not provided [RCV000908197] Chr11:101491628 [GRCh38]
Chr11:101362359 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.6C>G (p.Ser2Arg) single nucleotide variant not provided [RCV001067397] Chr11:101583498 [GRCh38]
Chr11:101454229 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-352C>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106317] Chr11:101583855 [GRCh38]
Chr11:101454586 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2392G>C (p.Asp798His) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103185] Chr11:101471200 [GRCh38]
Chr11:101341931 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2304G>T (p.Pro768=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103186] Chr11:101471288 [GRCh38]
Chr11:101342019 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-205C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001105190] Chr11:101583708 [GRCh38]
Chr11:101454439 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2526T>C (p.Asp842=) single nucleotide variant not provided [RCV000913011] Chr11:101455060 [GRCh38]
Chr11:101325791 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.2645-69G>A single nucleotide variant not provided [RCV001562260] Chr11:101453175 [GRCh38]
Chr11:101323906 [GRCh37]
Chr11:11q22.1
likely benign
Single allele single nucleotide variant not provided [RCV001568301] Chr11:101584242 [GRCh38]
Chr11:101454973 [GRCh37]
Chr11:11q22.1
likely benign
null single nucleotide variant not provided [RCV001620354] Chr11:101473446 [GRCh38]
Chr11:101344177 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001593805] Chr11:101583078 [GRCh38]
Chr11:101453809 [GRCh37]
Chr11:11q22.1
likely benign
null single nucleotide variant not provided [RCV001693426] Chr11:101455388 [GRCh38]
Chr11:101326119 [GRCh37]
Chr11:11q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001658523] Chr11:101454832 [GRCh38]
Chr11:101325563 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001620621] Chr11:101455239 [GRCh38]
Chr11:101325970 [GRCh37]
Chr11:11q22.1
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001654314] Chr11:101505019 [GRCh38]
Chr11:101375750 [GRCh37]
Chr11:11q22.1
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001608200] Chr11:101454847 [GRCh38]
Chr11:101325578 [GRCh37]
Chr11:11q22.1
benign
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) deletion not provided [RCV001641235] Chr11:101504955 [GRCh38]
Chr11:101375686 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.*1032A>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103079] Chr11:101451923 [GRCh38]
Chr11:101322654 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2299G>A (p.Val767Met) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103187] Chr11:101471293 [GRCh38]
Chr11:101342024 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2205+9T>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103188] Chr11:101472128 [GRCh38]
Chr11:101342859 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.374A>G (p.Asn125Ser) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108455]|not provided [RCV001339965] Chr11:101504595 [GRCh38]
Chr11:101375326 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1899C>T (p.Asp633=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001105103] Chr11:101473619 [GRCh38]
Chr11:101344350 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.-276G>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001105193] Chr11:101583779 [GRCh38]
Chr11:101454510 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*293G>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106147] Chr11:101452662 [GRCh38]
Chr11:101323393 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1612G>A (p.Ala538Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106231] Chr11:101476433 [GRCh38]
Chr11:101347164 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*507T>A single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106146] Chr11:101452448 [GRCh38]
Chr11:101323179 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*147T>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108355] Chr11:101452808 [GRCh38]
Chr11:101323539 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_000085.5(CLCNKB):c.101-50G>C single nucleotide variant not provided [RCV001682544] Chr11:101482750 [GRCh38]
Chr11:101353481 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001691699] Chr11:101453252 [GRCh38]
Chr11:101323983 [GRCh37]
Chr11:11q22.1
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001649012] Chr11:101482761 [GRCh38]
Chr11:101353492 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001589567] Chr11:101476185 [GRCh38]
Chr11:101346916 [GRCh37]
Chr11:11q22.1
likely benign
null single nucleotide variant not provided [RCV001612458] Chr11:101491332 [GRCh38]
Chr11:101362063 [GRCh37]
Chr11:11q22.1
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001650764] Chr11:101483301 [GRCh38]
Chr11:101354032 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn) single nucleotide variant Focal segmental glomerulosclerosis [RCV001003821] Chr11:101453083 [GRCh38]
Chr11:101323814 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.*820C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001104990] Chr11:101452135 [GRCh38]
Chr11:101322866 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001029759]|not provided [RCV001247810] Chr11:101504445 [GRCh38]
Chr11:101375176 [GRCh37]
Chr11:11q22.1
pathogenic|likely pathogenic
NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001248773] Chr11:101453040 [GRCh38]
Chr11:101323771 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.-424G>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001106318] Chr11:101583927 [GRCh38]
Chr11:101454658 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.18G>A (p.Ala6=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103276] Chr11:101583486 [GRCh38]
Chr11:101454217 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*3C>T single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108356] Chr11:101452952 [GRCh38]
Chr11:101323683 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.*1147A>G single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103078] Chr11:101451808 [GRCh38]
Chr11:101322539 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.114G>A (p.Leu38=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001103274] Chr11:101583390 [GRCh38]
Chr11:101454121 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.642A>G (p.Thr214=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108453] Chr11:101504327 [GRCh38]
Chr11:101375058 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.375C>T (p.Asn125=) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108454] Chr11:101504594 [GRCh38]
Chr11:101375325 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.272G>T (p.Arg91Leu) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001108456] Chr11:101504697 [GRCh38]
Chr11:101375428 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.*960G>C single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001104989] Chr11:101451995 [GRCh38]
Chr11:101322726 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1930G>C (p.Val644Leu) single nucleotide variant Corticosteroids response [RCV001254652] Chr11:101473588 [GRCh38]
Chr11:101344319 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1484A>G (p.Glu495Gly) single nucleotide variant Corticosteroids response [RCV001261434] Chr11:101482975 [GRCh38]
Chr11:101353706 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1309C>T (p.Arg437Cys) single nucleotide variant Corticosteroids response [RCV001261435] Chr11:101483150 [GRCh38]
Chr11:101353881 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.218G>T (p.Arg73Leu) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001253487] Chr11:101504751 [GRCh38]
Chr11:101375482 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.293A>T (p.Glu98Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001262964] Chr11:101504676 [GRCh38]
Chr11:101375407 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.421G>T (p.Val141Leu) single nucleotide variant not provided [RCV001531125] Chr11:101504548 [GRCh38]
Chr11:101375279 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.340G>C (p.Val114Leu) single nucleotide variant Corticosteroids response [RCV001261436] Chr11:101504629 [GRCh38]
Chr11:101375360 [GRCh37]
Chr11:11q22.1
drug response
NM_004621.6(TRPC6):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV001296400] Chr11:101583503 [GRCh38]
Chr11:101454234 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2643dup (p.Gly882fs) duplication Focal segmental glomerulosclerosis 2 [RCV001281330] Chr11:101453650..101453651 [GRCh38]
Chr11:101324381..101324382 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.1520G>A (p.Trp507Ter) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001329938] Chr11:101476525 [GRCh38]
Chr11:101347256 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.2504C>G (p.Pro835Arg) single nucleotide variant not provided [RCV001309673] Chr11:101455082 [GRCh38]
Chr11:101325813 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1065T>G (p.Ser355Arg) single nucleotide variant not provided [RCV001342910] Chr11:101491619 [GRCh38]
Chr11:101362350 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.2684G>A (p.Arg895His) single nucleotide variant not provided [RCV001343691] Chr11:101453067 [GRCh38]
Chr11:101323798 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.271C>T (p.Arg91Cys) single nucleotide variant not provided [RCV001351869] Chr11:101504698 [GRCh38]
Chr11:101375429 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1129-299G>A single nucleotide variant not provided [RCV001539206] Chr11:101489400 [GRCh38]
Chr11:101360131 [GRCh37]
Chr11:11q22.1
benign
NM_004621.6(TRPC6):c.253_264dup (p.Ala85_Phe88dup) duplication not provided [RCV001397170] Chr11:101504704..101504705 [GRCh38]
Chr11:101375435..101375436 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.2605C>T (p.Gln869Ter) single nucleotide variant not provided [RCV001288537] Chr11:101453689 [GRCh38]
Chr11:101324420 [GRCh37]
Chr11:11q22.1
pathogenic
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001281329] Chr11:101453653 [GRCh38]
Chr11:101324384 [GRCh37]
Chr11:11q22.1
likely pathogenic
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001391126]|Nephrotic syndrome [RCV001328109] Chr11:101504325 [GRCh38]
Chr11:101375056 [GRCh37]
Chr11:11q22.1
likely pathogenic|uncertain significance
NM_004621.6(TRPC6):c.2568+9G>A single nucleotide variant not provided [RCV001421890] Chr11:101455009 [GRCh38]
Chr11:101325740 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.2296C>G (p.Leu766Val) single nucleotide variant not provided [RCV001341875] Chr11:101471296 [GRCh38]
Chr11:101342027 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.186C>T (p.Asn62=) single nucleotide variant not provided [RCV001288535] Chr11:101504783 [GRCh38]
Chr11:101375514 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1611C>T (p.Phe537=) single nucleotide variant Nephrotic syndrome [RCV001328110]|not provided [RCV001460868] Chr11:101476434 [GRCh38]
Chr11:101347165 [GRCh37]
Chr11:11q22.1
likely benign|uncertain significance
NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001329939] Chr11:101455100 [GRCh38]
Chr11:101325831 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.101T>C (p.Met34Thr) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001336715] Chr11:101583403 [GRCh38]
Chr11:101454134 [GRCh37]
Chr11:11q22.1
uncertain significance
NC_000011.9:g.(?_94153285)_(111965700_?)del deletion Ataxia-telangiectasia syndrome [RCV001389105] Chr11:94153285..111965700 [GRCh37]
Chr11:11q21-23.1
pathogenic
NM_004621.6(TRPC6):c.2645-1G>A single nucleotide variant Nephrotic syndrome [RCV001328111] Chr11:101453107 [GRCh38]
Chr11:101323838 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.1513A>G (p.Met505Val) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001329300] Chr11:101476532 [GRCh38]
Chr11:101347263 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.30G>A (p.Arg10=) single nucleotide variant not provided [RCV001466698] Chr11:101583474 [GRCh38]
Chr11:101454205 [GRCh37]
Chr11:11q22.1
likely benign
NM_004621.6(TRPC6):c.1394T>C (p.Phe465Ser) single nucleotide variant Focal segmental glomerulosclerosis 2 [RCV001391125] Chr11:101483065 [GRCh38]
Chr11:101353796 [GRCh37]
Chr11:11q22.1
uncertain significance
NM_004621.6(TRPC6):c.552G>A (p.Pro184=) single nucleotide variant not provided [RCV001430373] Chr11:101504417 [GRCh38]
Chr11:101375148 [GRCh37]
Chr11:11q22.1
likely benign
null single nucleotide variant not provided [RCV001675402] Chr11:101489201 [GRCh38]
Chr11:101359932 [GRCh37]
Chr11:11q22.1
benign
NM_014053.4(FLVCR1):c.663C>T (p.Pro221=) single nucleotide variant not provided [RCV001650776] Chr11:101472631 [GRCh38]
Chr11:101343362 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001581700] Chr11:101482800 [GRCh38]
Chr11:101353531 [GRCh37]
Chr11:11q22.1
likely benign
null single nucleotide variant not provided [RCV001671783] Chr11:101504884 [GRCh38]
Chr11:101375615 [GRCh37]
Chr11:11q22.1
benign
null single nucleotide variant not provided [RCV001612456] Chr11:101583264 [GRCh38]
Chr11:101453995 [GRCh37]
Chr11:11q22.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12338 AgrOrtholog
COSMIC TRPC6 COSMIC
Ensembl Genes ENSG00000137672 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000340913 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343672 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353687 UniProtKB/Swiss-Prot
  ENSP00000435574 UniProtKB/TrEMBL
Ensembl Transcript ENST00000344327 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000348423 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360497 UniProtKB/Swiss-Prot
  ENST00000532133 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137672 GTEx
HGNC ID HGNC:12338 ENTREZGENE
Human Proteome Map TRPC6 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPC6_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPC_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7225 UniProtKB/Swiss-Prot
NCBI Gene 7225 ENTREZGENE
OMIM 603652 OMIM
  603965 OMIM
PANTHER PTHR10117 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10117:SF7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37011 PharmGKB
PRINTS TRNSRECEPTRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPCHANNEL6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PJN4_HUMAN UniProtKB/TrEMBL
  Q9Y210 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q52M59 UniProtKB/Swiss-Prot
  Q9HCW3 UniProtKB/Swiss-Prot
  Q9NQA8 UniProtKB/Swiss-Prot
  Q9NQA9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TRPC6  transient receptor potential cation channel subfamily C member 6  FSGS2  focal segmental glomerulosclerosis 2  Data Merged 737654 PROVISIONAL
2016-02-02 TRPC6  transient receptor potential cation channel subfamily C member 6    transient receptor potential cation channel, subfamily C, member 6  Symbol and/or name change 5135510 APPROVED
2011-08-16 TRPC6  transient receptor potential cation channel, subfamily C, member 6  TRPC6  transient receptor potential cation channel, subfamily C, member 6  Symbol and/or name change 5135510 APPROVED