TRPV6 (transient receptor potential cation channel subfamily V member 6) - Rat Genome Database

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Gene: TRPV6 (transient receptor potential cation channel subfamily V member 6) Homo sapiens
Analyze
Symbol: TRPV6
Name: transient receptor potential cation channel subfamily V member 6
RGD ID: 731367
HGNC Page HGNC:14006
Description: Enables calcium channel activity and calmodulin binding activity. Involved in calcium ion import across plasma membrane. Located in plasma membrane. Implicated in hyperparathyroidism. Biomarker of gestational diabetes and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABP/ZF; Alu-binding protein with zinc finger domain; calcium channel CaT1; calcium transport protein 1; calcium transporter-like protein; caT-L; caT-like; CAT1; CATL; ECAC2; epithelial apical membrane calcium transporter/channel CaT1; epithelial calcium channel 2; HRPTTN; HSA277909; LP6728; transient receptor potential cation channel, subfamily V, member 6; ZFAB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh387142,871,208 - 142,885,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,871,208 - 142,885,745 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,568,961 - 142,583,490 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,279,082 - 142,293,599 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,085,796 - 142,100,314NCBI
Celera7137,406,262 - 137,420,596 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,907,167 - 136,921,549 (-)NCBIHuRef
CHM1_17142,505,175 - 142,519,717 (-)NCBICHM1_1
T2T-CHM13v2.07144,227,023 - 144,241,552 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27141,970,820 - 141,985,355 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
alfacalcidol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
barium(0)  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
calciol  (EXP)
calcitriol  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
Calphostin C  (EXP)
capsaicin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (EXP)
dextran sulfate  (ISO)
dimethylarsinic acid  (ISO)
endosulfan  (EXP)
ethylparaben  (EXP)
flavonoids  (ISO)
formononetin  (ISO)
fulvestrant  (EXP,ISO)
furosemide  (ISO)
gadolinium atom  (EXP)
gentamycin  (ISO)
lanthanum atom  (EXP)
lithocholic acid  (EXP,ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
mercaptopurine  (ISO)
methimazole  (ISO)
methotrexate  (EXP)
methylarsonic acid  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
potassium dichromate  (ISO)
progesterone  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
strontium atom  (EXP)
tamoxifen  (EXP)
tebuconazole  (EXP)
testosterone  (EXP,ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic acid  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
calcium channel complex  (IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,ISS,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Disrupted placental vitamin D metabolism and calcium signaling in gestational diabetes and pre-eclampsia patients. Varshney S, etal., Endocrine. 2023 Apr;80(1):191-200. doi: 10.1007/s12020-022-03272-9. Epub 2022 Dec 8.
5. International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family. Wu LJ, etal., Pharmacol Rev. 2010 Sep;62(3):381-404. doi: 10.1124/pr.110.002725.
Additional References at PubMed
PMID:11097838   PMID:11208552   PMID:11248124   PMID:11278579   PMID:11401523   PMID:11545681   PMID:11549322   PMID:11719848   PMID:11744752   PMID:11846401   PMID:12011062   PMID:12138163  
PMID:12361955   PMID:12390878   PMID:12477932   PMID:12584203   PMID:12601087   PMID:12660155   PMID:12690205   PMID:12765696   PMID:12765698   PMID:12869611   PMID:14534305   PMID:14604453  
PMID:14736889   PMID:15020691   PMID:15184369   PMID:15192090   PMID:15582993   PMID:15647288   PMID:15894168   PMID:16189514   PMID:16210335   PMID:16356545   PMID:16382100   PMID:16529812  
PMID:16564089   PMID:16574738   PMID:16717058   PMID:16763551   PMID:17002582   PMID:17197020   PMID:17217060   PMID:17233615   PMID:17550901   PMID:17587679   PMID:18245667   PMID:18276610  
PMID:18301763   PMID:18392847   PMID:18395250   PMID:18445599   PMID:18976975   PMID:19056662   PMID:19140341   PMID:19169858   PMID:19295174   PMID:19779013   PMID:19857260   PMID:20041238  
PMID:20178461   PMID:20405023   PMID:20684323   PMID:20730379   PMID:20843805   PMID:20948163   PMID:21146870   PMID:21228504   PMID:21290300   PMID:21349844   PMID:21400627   PMID:21732366  
PMID:21810903   PMID:21873635   PMID:22163264   PMID:22331416   PMID:22354706   PMID:22378746   PMID:22589201   PMID:22807578   PMID:22932896   PMID:23140583   PMID:23300090   PMID:23373973  
PMID:23376485   PMID:23612980   PMID:23968883   PMID:24592736   PMID:24624459   PMID:24761864   PMID:25164318   PMID:25172921   PMID:25372600   PMID:25416956   PMID:25477137   PMID:25559186  
PMID:26283571   PMID:26449889   PMID:26563429   PMID:26818094   PMID:27197753   PMID:27291418   PMID:27450545   PMID:28063212   PMID:28501141   PMID:28578001   PMID:29258289   PMID:29344675  
PMID:29632318   PMID:29758225   PMID:29861107   PMID:30144375   PMID:31519324   PMID:31526479   PMID:31930989   PMID:32383311   PMID:32646367   PMID:32795530   PMID:32895467   PMID:33069057  
PMID:33115253   PMID:33334793   PMID:33579815   PMID:33610740   PMID:34085788   PMID:34265397   PMID:34538581   PMID:34725357   PMID:34884497   PMID:34923708   PMID:35031425   PMID:35181592  
PMID:35705057   PMID:35740929   PMID:36162385   PMID:36599151   PMID:36688959   PMID:36858649   PMID:37098383  


Genomics

Comparative Map Data
TRPV6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,871,208 - 142,885,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,871,208 - 142,885,745 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,568,961 - 142,583,490 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,279,082 - 142,293,599 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,085,796 - 142,100,314NCBI
Celera7137,406,262 - 137,420,596 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,907,167 - 136,921,549 (-)NCBIHuRef
CHM1_17142,505,175 - 142,519,717 (-)NCBICHM1_1
T2T-CHM13v2.07144,227,023 - 144,241,552 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27141,970,820 - 141,985,355 (-)NCBI
Trpv6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39641,597,553 - 41,613,339 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl641,597,558 - 41,613,339 (-)EnsemblGRCm39 Ensembl
GRCm38641,620,619 - 41,636,405 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl641,620,624 - 41,636,405 (-)EnsemblGRCm38mm10GRCm38
MGSCv37641,570,618 - 41,586,404 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36641,550,232 - 41,565,942 (-)NCBIMGSCv36mm8
Celera641,573,210 - 41,588,993 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map619.79NCBI
Trpv6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8471,474,006 - 71,489,667 (-)NCBIGRCr8
mRatBN7.2470,507,347 - 70,523,013 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl470,507,348 - 70,523,017 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx475,424,871 - 75,440,482 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0471,338,124 - 71,353,735 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0469,746,459 - 69,762,055 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0470,918,631 - 70,934,291 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl470,918,632 - 70,934,295 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04135,705,692 - 135,721,356 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4469,331,973 - 69,347,633 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1469,608,103 - 69,623,760 (-)NCBI
Celera465,472,398 - 65,488,058 (-)NCBICelera
Cytogenetic Map4q23NCBI
Trpv6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955494818,643 - 836,126 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955494820,801 - 835,931 (-)NCBIChiLan1.0ChiLan1.0
LOC100990398
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26179,719,619 - 179,734,609 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1731,729,875 - 31,744,866 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07134,862,223 - 134,877,051 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17147,353,684 - 147,368,475 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,353,684 - 147,368,475 (-)Ensemblpanpan1.1panPan2
TRPV6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,691,521 - 6,706,205 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,691,254 - 6,706,207 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0166,602,597 - 6,617,275 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,602,330 - 6,617,284 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,555,020 - 6,570,553 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0166,407,357 - 6,422,030 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,466,102 - 6,480,792 (+)NCBIUU_Cfam_GSD_1.0
Trpv6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511812,543,552 - 12,558,192 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936527345,626 - 359,942 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936527345,237 - 359,877 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPV6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121111,750,821 - 111,766,274 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21111,750,945 - 111,765,450 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660728,474,129 - 8,489,168 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpv6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480012,074,999 - 12,090,049 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480012,074,997 - 12,090,141 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPV6
142 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_018646.5(TRPV6):c.1983G>A (p.Arg?=) single nucleotide variant Malignant melanoma [RCV000067705] Chr7:142872404 [GRCh38]
Chr7:142570157 [GRCh37]
Chr7:142280279 [NCBI36]
Chr7:7q34
not provided
NM_018646.5(TRPV6):c.1595G>A (p.Arg?Gln) single nucleotide variant Malignant melanoma [RCV000067706] Chr7:142874120 [GRCh38]
Chr7:142571873 [GRCh37]
Chr7:142281995 [NCBI36]
Chr7:7q34
not provided
NM_018646.5(TRPV6):c.852C>T (p.Phe?=) single nucleotide variant Malignant melanoma [RCV000067707] Chr7:142876438 [GRCh38]
Chr7:142574191 [GRCh37]
Chr7:142284313 [NCBI36]
Chr7:7q34
not provided
NM_018646.6(TRPV6):c.1463G>A (p.Ser488Asn) single nucleotide variant not provided [RCV000054751] Chr7:142874600 [GRCh38]
Chr7:142572353 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1558A>C (p.Ile520Leu) single nucleotide variant not provided [RCV000054752] Chr7:142874505 [GRCh38]
Chr7:142572258 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1904C>A (p.Ala635Asp) single nucleotide variant not provided [RCV000054753] Chr7:142873452 [GRCh38]
Chr7:142571205 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.402C>T (p.Ala134=) single nucleotide variant not provided [RCV000054754] Chr7:142877718 [GRCh38]
Chr7:142575471 [GRCh37]
Chr7:7q34
likely benign|uncertain significance
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
NM_018646.6(TRPV6):c.1765G>A (p.Val589Met) single nucleotide variant not provided [RCV001804186] Chr7:142873591 [GRCh38]
Chr7:142571344 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_018646.6(TRPV6):c.197G>A (p.Arg66Gln) single nucleotide variant Inborn genetic diseases [RCV003295019] Chr7:142885440 [GRCh38]
Chr7:142583185 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.2124G>C (p.Glu708Asp) single nucleotide variant Inborn genetic diseases [RCV003287636] Chr7:142871881 [GRCh38]
Chr7:142569634 [GRCh37]
Chr7:7q34
uncertain significance
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3
likely pathogenic
NM_018646.6(TRPV6):c.1963C>T (p.Arg655Cys) single nucleotide variant Inborn genetic diseases [RCV003269910] Chr7:142872424 [GRCh38]
Chr7:142570177 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.607+5G>A single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000721918] Chr7:142877137 [GRCh38]
Chr7:142574890 [GRCh37]
Chr7:7q34
pathogenic
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) duplication Hyperparathyroidism, transient neonatal [RCV000721913]|not provided [RCV001008769] Chr7:142877215..142877216 [GRCh38]
Chr7:142574968..142574969 [GRCh37]
Chr7:7q34
pathogenic
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000721914]|not provided [RCV003546592] Chr7:142876777 [GRCh38]
Chr7:142574530 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic|uncertain significance
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000721915] Chr7:142875133 [GRCh38]
Chr7:142572886 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000721916] Chr7:142874958 [GRCh38]
Chr7:142572711 [GRCh37]
Chr7:7q34
pathogenic|likely pathogenic
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) deletion Hyperparathyroidism, transient neonatal [RCV000721917] Chr7:142875808..142875809 [GRCh38]
Chr7:142573561..142573562 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000853473] Chr7:142876810 [GRCh38]
Chr7:142574563 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000853475] Chr7:142874616 [GRCh38]
Chr7:142572369 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.715_724del (p.Val239fs) deletion Hyperparathyroidism, transient neonatal [RCV003314503] Chr7:142876566..142876575 [GRCh38]
Chr7:142574319..142574328 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV002502907]|TRPV6-related disorder [RCV003933247]|not provided [RCV000947077] Chr7:142875618 [GRCh38]
Chr7:142573371 [GRCh37]
Chr7:7q34
benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NM_018646.6(TRPV6):c.969C>T (p.Ile323=) single nucleotide variant TRPV6-related disorder [RCV003968388]|not provided [RCV000910206] Chr7:142875818 [GRCh38]
Chr7:142573571 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.52= (p.Ala18=) variation not provided [RCV000947078] Chr7:142885585 [GRCh38]
Chr7:142583330 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.52G>T (p.Ala18Ser) single nucleotide variant not provided [RCV000954439] Chr7:142885585 [GRCh38]
Chr7:142583330 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q34(chr7:142565890-142706787)x3 copy number gain not provided [RCV000849722] Chr7:142565890..142706787 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34(chr7:142568958-142706787)x3 copy number gain not provided [RCV000848853] Chr7:142568958..142706787 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
NM_018646.6(TRPV6):c.1672G>A (p.Glu558Lys) single nucleotide variant Inborn genetic diseases [RCV003272521] Chr7:142873684 [GRCh38]
Chr7:142571437 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) single nucleotide variant Slender long bone [RCV001009621] Chr7:142872409 [GRCh38]
Chr7:142570162 [GRCh37]
Chr7:7q34
likely pathogenic
GRCh37/hg19 7q34(chr7:141937588-142716850)x3 copy number gain Newborn respiratory distress syndrome [RCV002284310] Chr7:141937588..142716850 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV000853474] Chr7:142875125 [GRCh38]
Chr7:142572878 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.1764C>T (p.Asn588=) single nucleotide variant TRPV6-related disorder [RCV003958217]|not provided [RCV000905394] Chr7:142873592 [GRCh38]
Chr7:142571345 [GRCh37]
Chr7:7q34
benign|likely benign
NM_018646.6(TRPV6):c.927G>A (p.Thr309=) single nucleotide variant not provided [RCV000956538] Chr7:142875860 [GRCh38]
Chr7:142573613 [GRCh37]
Chr7:7q34
benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV001200883] Chr7:142873710 [GRCh38]
Chr7:142571463 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV001329686] Chr7:142876577 [GRCh38]
Chr7:142574330 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV001280805] Chr7:142873612 [GRCh38]
Chr7:142571365 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV001329685] Chr7:142877225 [GRCh38]
Chr7:142574978 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1329+1G>A single nucleotide variant Hyperparathyroidism, transient neonatal [RCV001783916] Chr7:142875077 [GRCh38]
Chr7:142572830 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.830A>G (p.Asn277Ser) single nucleotide variant not provided [RCV001767449] Chr7:142876460 [GRCh38]
Chr7:142574213 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_018646.6(TRPV6):c.1338C>T (p.Asp446=) single nucleotide variant not provided [RCV002293178] Chr7:142874972 [GRCh38]
Chr7:142572725 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1922C>T (p.Thr641Ile) single nucleotide variant Inborn genetic diseases [RCV002859110] Chr7:142872465 [GRCh38]
Chr7:142570218 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_018646.6(TRPV6):c.1031C>T (p.Ala344Val) single nucleotide variant Inborn genetic diseases [RCV002817090] Chr7:142875679 [GRCh38]
Chr7:142573432 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1936C>T (p.Arg646Trp) single nucleotide variant Inborn genetic diseases [RCV002749209]|not provided [RCV003548968] Chr7:142872451 [GRCh38]
Chr7:142570204 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.765G>A (p.Met255Ile) single nucleotide variant Inborn genetic diseases [RCV002732877] Chr7:142876525 [GRCh38]
Chr7:142574278 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2080C>T (p.Arg694Trp) single nucleotide variant Inborn genetic diseases [RCV002703834] Chr7:142871925 [GRCh38]
Chr7:142569678 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.209C>T (p.Ala70Val) single nucleotide variant Inborn genetic diseases [RCV002757239] Chr7:142885428 [GRCh38]
Chr7:142583173 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.428C>T (p.Pro143Leu) single nucleotide variant Inborn genetic diseases [RCV002783944] Chr7:142877692 [GRCh38]
Chr7:142575445 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1195C>T (p.Arg399Cys) single nucleotide variant Inborn genetic diseases [RCV002759472] Chr7:142875515 [GRCh38]
Chr7:142573268 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.947C>G (p.Thr316Ser) single nucleotide variant Inborn genetic diseases [RCV002976763] Chr7:142875840 [GRCh38]
Chr7:142573593 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2041C>T (p.Arg681Trp) single nucleotide variant Inborn genetic diseases [RCV002925224] Chr7:142871964 [GRCh38]
Chr7:142569717 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1513G>A (p.Val505Ile) single nucleotide variant Inborn genetic diseases [RCV002738634] Chr7:142874550 [GRCh38]
Chr7:142572303 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2057G>A (p.Arg686His) single nucleotide variant Inborn genetic diseases [RCV002910481] Chr7:142871948 [GRCh38]
Chr7:142569701 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.614A>G (p.His205Arg) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV003989816]|Inborn genetic diseases [RCV002708587]|not provided [RCV003548959] Chr7:142876831 [GRCh38]
Chr7:142574584 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.124G>A (p.Gly42Ser) single nucleotide variant Inborn genetic diseases [RCV002699092] Chr7:142885513 [GRCh38]
Chr7:142583258 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1970G>T (p.Gly657Val) single nucleotide variant Inborn genetic diseases [RCV002891818] Chr7:142872417 [GRCh38]
Chr7:142570170 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1492C>T (p.Leu498Phe) single nucleotide variant Inborn genetic diseases [RCV002874492] Chr7:142874571 [GRCh38]
Chr7:142572324 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2177G>A (p.Arg726Gln) single nucleotide variant Inborn genetic diseases [RCV002832286] Chr7:142871828 [GRCh38]
Chr7:142569581 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.787G>A (p.Asp263Asn) single nucleotide variant Inborn genetic diseases [RCV002963632]|not provided [RCV003561132] Chr7:142876503 [GRCh38]
Chr7:142574256 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1258C>G (p.Pro420Ala) single nucleotide variant Inborn genetic diseases [RCV002668373]|not provided [RCV003777581] Chr7:142875149 [GRCh38]
Chr7:142572902 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1780A>G (p.Met594Val) single nucleotide variant Inborn genetic diseases [RCV002652706] Chr7:142873576 [GRCh38]
Chr7:142571329 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2243G>A (p.Arg748His) single nucleotide variant Inborn genetic diseases [RCV003255018] Chr7:142871762 [GRCh38]
Chr7:142569515 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2035C>A (p.Leu679Ile) single nucleotide variant Inborn genetic diseases [RCV003220617] Chr7:142871970 [GRCh38]
Chr7:142569723 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV003142852] Chr7:142875817 [GRCh38]
Chr7:142573570 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1
pathogenic
NM_018646.6(TRPV6):c.218G>A (p.Arg73Gln) single nucleotide variant Inborn genetic diseases [RCV003374042] Chr7:142885419 [GRCh38]
Chr7:142583164 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1525G>A (p.Ala509Thr) single nucleotide variant Inborn genetic diseases [RCV003385691] Chr7:142874538 [GRCh38]
Chr7:142572291 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.513C>G (p.Asn171Lys) single nucleotide variant Inborn genetic diseases [RCV003352666] Chr7:142877236 [GRCh38]
Chr7:142574989 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.634T>C (p.Cys212Arg) single nucleotide variant not provided [RCV003570015] Chr7:142876811 [GRCh38]
Chr7:142574564 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.67C>A (p.Pro23Thr) single nucleotide variant not provided [RCV003569062] Chr7:142885570 [GRCh38]
Chr7:142583315 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1067T>C (p.Leu356Pro) single nucleotide variant not provided [RCV003434205] Chr7:142875643 [GRCh38]
Chr7:142573396 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_018646.6(TRPV6):c.896T>A (p.Leu299Gln) single nucleotide variant not provided [RCV003434206] Chr7:142875891 [GRCh38]
Chr7:142573644 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.2227C>T (p.Leu743=) single nucleotide variant not provided [RCV003696698] Chr7:142871778 [GRCh38]
Chr7:142569531 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1572+17A>G single nucleotide variant not provided [RCV003882550] Chr7:142874474 [GRCh38]
Chr7:142572227 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.237G>T (p.Leu79=) single nucleotide variant not provided [RCV003696699] Chr7:142885400 [GRCh38]
Chr7:142583145 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.347-6T>C single nucleotide variant not provided [RCV003572447] Chr7:142877779 [GRCh38]
Chr7:142575532 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.707-13G>C single nucleotide variant not provided [RCV003848898] Chr7:142876596 [GRCh38]
Chr7:142574349 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1216A>G (p.Thr406Ala) single nucleotide variant not provided [RCV003577333] Chr7:142875494 [GRCh38]
Chr7:142573247 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1253T>C (p.Met418Thr) single nucleotide variant not provided [RCV003546221] Chr7:142875154 [GRCh38]
Chr7:142572907 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.919C>T (p.Gln307Ter) single nucleotide variant not provided [RCV003547602] Chr7:142875868 [GRCh38]
Chr7:142573621 [GRCh37]
Chr7:7q34
pathogenic
NM_018646.6(TRPV6):c.654C>T (p.Ile218=) single nucleotide variant TRPV6-related disorder [RCV003929211]|not provided [RCV003573186] Chr7:142876791 [GRCh38]
Chr7:142574544 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV003494602]|Inborn genetic diseases [RCV004364910] Chr7:142872418 [GRCh38]
Chr7:142570171 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1110C>T (p.Cys370=) single nucleotide variant TRPV6-related disorder [RCV003954251]|not provided [RCV003546123] Chr7:142875600 [GRCh38]
Chr7:142573353 [GRCh37]
Chr7:7q34
benign|likely benign
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter) single nucleotide variant Hyperparathyroidism, transient neonatal [RCV003494601] Chr7:142878021 [GRCh38]
Chr7:142575774 [GRCh37]
Chr7:7q34
likely pathogenic
NM_018646.6(TRPV6):c.469+13G>A single nucleotide variant not provided [RCV003830190] Chr7:142877638 [GRCh38]
Chr7:142575391 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.465T>C (p.Tyr155=) single nucleotide variant not provided [RCV003830290] Chr7:142877655 [GRCh38]
Chr7:142575408 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1908+16G>A single nucleotide variant not provided [RCV003877505] Chr7:142873432 [GRCh38]
Chr7:142571185 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.86G>A (p.Arg29Gln) single nucleotide variant not provided [RCV003690749] Chr7:142885551 [GRCh38]
Chr7:142583296 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1131G>A (p.Leu377=) single nucleotide variant not provided [RCV003690748] Chr7:142875579 [GRCh38]
Chr7:142573332 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1030-19T>C single nucleotide variant not provided [RCV003882127] Chr7:142875699 [GRCh38]
Chr7:142573452 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1909-12T>A single nucleotide variant not provided [RCV003544831] Chr7:142872490 [GRCh38]
Chr7:142570243 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1025G>A (p.Arg342Gln) single nucleotide variant not provided [RCV003852649] Chr7:142875762 [GRCh38]
Chr7:142573515 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1029+14C>G single nucleotide variant not provided [RCV003840447] Chr7:142875744 [GRCh38]
Chr7:142573497 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.119_120delinsTT (p.Pro40Leu) indel not provided [RCV003717034] Chr7:142885517..142885518 [GRCh38]
Chr7:142583262..142583263 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2202T>C (p.Asn734=) single nucleotide variant TRPV6-related disorder [RCV003981039]|not provided [RCV003673821] Chr7:142871803 [GRCh38]
Chr7:142569556 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1101G>A (p.Pro367=) single nucleotide variant not provided [RCV003559198] Chr7:142875609 [GRCh38]
Chr7:142573362 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.347-18C>T single nucleotide variant not provided [RCV003833914] Chr7:142877791 [GRCh38]
Chr7:142575544 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1998A>G (p.Gly666=) single nucleotide variant TRPV6-related disorder [RCV003966547]|not provided [RCV003666600] Chr7:142872389 [GRCh38]
Chr7:142570142 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1406+8T>C single nucleotide variant TRPV6-related disorder [RCV003981024]|not provided [RCV003666601] Chr7:142874896 [GRCh38]
Chr7:142572649 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.2016-18T>A single nucleotide variant not provided [RCV003815917] Chr7:142872007 [GRCh38]
Chr7:142569760 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.996G>A (p.Leu332=) single nucleotide variant TRPV6-related disorder [RCV003948929]|not provided [RCV003700110] Chr7:142875791 [GRCh38]
Chr7:142573544 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.589T>C (p.Cys197Arg) single nucleotide variant TRPV6-related disorder [RCV003981027]|not provided [RCV003666605] Chr7:142877160 [GRCh38]
Chr7:142574913 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.2168C>T (p.Ser723Leu) single nucleotide variant not provided [RCV003839208] Chr7:142871837 [GRCh38]
Chr7:142569590 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1512C>T (p.Asn504=) single nucleotide variant TRPV6-related disorder [RCV003981038]|not provided [RCV003671213] Chr7:142874551 [GRCh38]
Chr7:142572304 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.469+12C>T single nucleotide variant not provided [RCV003837643] Chr7:142877639 [GRCh38]
Chr7:142575392 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1407-5C>T single nucleotide variant TRPV6-related disorder [RCV003939149]|not provided [RCV003702242] Chr7:142874661 [GRCh38]
Chr7:142572414 [GRCh37]
Chr7:7q34
benign|likely benign
NM_018646.6(TRPV6):c.2015+17G>A single nucleotide variant not provided [RCV003816139] Chr7:142872355 [GRCh38]
Chr7:142570108 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1920C>T (p.Thr640=) single nucleotide variant TRPV6-related disorder [RCV003919320]|not provided [RCV003701469] Chr7:142872467 [GRCh38]
Chr7:142570220 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.608-6C>T single nucleotide variant not provided [RCV003724698] Chr7:142876843 [GRCh38]
Chr7:142574596 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1602C>T (p.Cys534=) single nucleotide variant not provided [RCV003559348] Chr7:142874113 [GRCh38]
Chr7:142571866 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.2153C>T (p.Ser718Phe) single nucleotide variant not provided [RCV003724660] Chr7:142871852 [GRCh38]
Chr7:142569605 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2162T>C (p.Met721Thr) single nucleotide variant TRPV6-related disorder [RCV003981023]|not provided [RCV003666599] Chr7:142871843 [GRCh38]
Chr7:142569596 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1200G>A (p.Thr400=) single nucleotide variant TRPV6-related disorder [RCV003981026]|not provided [RCV003666604] Chr7:142875510 [GRCh38]
Chr7:142573263 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1252A>G (p.Met418Val) single nucleotide variant TRPV6-related disorder [RCV003981025]|not provided [RCV003666602] Chr7:142875155 [GRCh38]
Chr7:142572908 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.38G>C (p.Gly13Ala) single nucleotide variant not provided [RCV003554124] Chr7:142885599 [GRCh38]
Chr7:142583344 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1056G>A (p.Pro352=) single nucleotide variant not provided [RCV003564988] Chr7:142875654 [GRCh38]
Chr7:142573407 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1923= (p.Thr641=) variation TRPV6-related disorder [RCV003981037]|not provided [RCV003675974] Chr7:142872464 [GRCh38]
Chr7:142570217 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.441T>C (p.Phe147=) single nucleotide variant not provided [RCV003843612] Chr7:142877679 [GRCh38]
Chr7:142575432 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1909-5C>T single nucleotide variant not provided [RCV003552363] Chr7:142872483 [GRCh38]
Chr7:142570236 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1572+14C>T single nucleotide variant not provided [RCV003818871] Chr7:142874477 [GRCh38]
Chr7:142572230 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.2177G>C (p.Arg726Pro) single nucleotide variant not provided [RCV003726782] Chr7:142871828 [GRCh38]
Chr7:142569581 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.603C>T (p.Tyr201=) single nucleotide variant not provided [RCV003733316] Chr7:142877146 [GRCh38]
Chr7:142574899 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.29C>T (p.Pro10Leu) single nucleotide variant not provided [RCV003557160] Chr7:142885608 [GRCh38]
Chr7:142583353 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2016-11G>A single nucleotide variant not provided [RCV003872365] Chr7:142872000 [GRCh38]
Chr7:142569753 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1141A>G (p.Ile381Val) single nucleotide variant not provided [RCV003566500] Chr7:142875569 [GRCh38]
Chr7:142573322 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.535C>T (p.Arg179Cys) single nucleotide variant not provided [RCV003565041] Chr7:142877214 [GRCh38]
Chr7:142574967 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1448G>A (p.Arg483Gln) single nucleotide variant not provided [RCV003842921] Chr7:142874615 [GRCh38]
Chr7:142572368 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.90T>C (p.Pro30=) single nucleotide variant not provided [RCV003721794] Chr7:142885547 [GRCh38]
Chr7:142583292 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_018646.6(TRPV6):c.1024C>T (p.Arg342Trp) single nucleotide variant not provided [RCV003557323] Chr7:142875763 [GRCh38]
Chr7:142573516 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2035C>G (p.Leu679Val) single nucleotide variant not provided [RCV003870196] Chr7:142871970 [GRCh38]
Chr7:142569723 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.706+18G>A single nucleotide variant not provided [RCV003552353] Chr7:142876721 [GRCh38]
Chr7:142574474 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1825C>T (p.Leu609Phe) single nucleotide variant not provided [RCV003842920] Chr7:142873531 [GRCh38]
Chr7:142571284 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1909A>G (p.Ile637Val) single nucleotide variant not provided [RCV003556950] Chr7:142872478 [GRCh38]
Chr7:142570231 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1030-5T>C single nucleotide variant not provided [RCV003681195] Chr7:142875685 [GRCh38]
Chr7:142573438 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1242+10T>C single nucleotide variant not provided [RCV003710965] Chr7:142875458 [GRCh38]
Chr7:142573211 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1050G>A (p.Gln350=) single nucleotide variant not provided [RCV003730007] Chr7:142875660 [GRCh38]
Chr7:142573413 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1168C>T (p.Arg390Cys) single nucleotide variant Hereditary pancreatitis [RCV003983781] Chr7:142875542 [GRCh38]
Chr7:142573295 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_018646.6(TRPV6):c.470-8dup duplication TRPV6-related disorder [RCV003969097] Chr7:142877286..142877287 [GRCh38]
Chr7:142575039..142575040 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.1248C>A (p.Ala416=) single nucleotide variant TRPV6-related disorder [RCV003929805] Chr7:142875159 [GRCh38]
Chr7:142572912 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1815C>T (p.Ile605=) single nucleotide variant TRPV6-related disorder [RCV003936817] Chr7:142873541 [GRCh38]
Chr7:142571294 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1981C>T (p.Arg661Trp) single nucleotide variant TRPV6-related disorder [RCV003924700] Chr7:142872406 [GRCh38]
Chr7:142570159 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.78C>T (p.Val26=) single nucleotide variant TRPV6-related disorder [RCV003951958] Chr7:142885559 [GRCh38]
Chr7:142583304 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.*5G>A single nucleotide variant TRPV6-related disorder [RCV003969213] Chr7:142871702 [GRCh38]
Chr7:142569455 [GRCh37]
Chr7:7q34
benign
NM_018646.6(TRPV6):c.840T>C (p.Gly280=) single nucleotide variant TRPV6-related disorder [RCV003959378] Chr7:142876450 [GRCh38]
Chr7:142574203 [GRCh37]
Chr7:7q34
likely benign
NM_018646.6(TRPV6):c.1360C>T (p.Arg454Cys) single nucleotide variant Inborn genetic diseases [RCV004471372] Chr7:142874950 [GRCh38]
Chr7:142572703 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2212C>T (p.Leu738Phe) single nucleotide variant Inborn genetic diseases [RCV004471378] Chr7:142871793 [GRCh38]
Chr7:142569546 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1611G>A (p.Met537Ile) single nucleotide variant Inborn genetic diseases [RCV004471374] Chr7:142874104 [GRCh38]
Chr7:142571857 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.324G>T (p.Glu108Asp) single nucleotide variant Inborn genetic diseases [RCV004471377] Chr7:142877951 [GRCh38]
Chr7:142575704 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.358G>A (p.Glu120Lys) single nucleotide variant Inborn genetic diseases [RCV004471381] Chr7:142877762 [GRCh38]
Chr7:142575515 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1587C>A (p.Asp529Glu) single nucleotide variant Inborn genetic diseases [RCV004471373] Chr7:142874128 [GRCh38]
Chr7:142571881 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1754C>T (p.Ala585Val) single nucleotide variant Inborn genetic diseases [RCV004471375] Chr7:142873602 [GRCh38]
Chr7:142571355 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2249T>C (p.Ile750Thr) single nucleotide variant Inborn genetic diseases [RCV004471379] Chr7:142871756 [GRCh38]
Chr7:142569509 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2278A>T (p.Ser760Cys) single nucleotide variant Inborn genetic diseases [RCV004471380] Chr7:142871727 [GRCh38]
Chr7:142569480 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.2143C>T (p.Pro715Ser) single nucleotide variant Inborn genetic diseases [RCV004680205] Chr7:142871862 [GRCh38]
Chr7:142569615 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.176T>G (p.Phe59Cys) single nucleotide variant Inborn genetic diseases [RCV004680207] Chr7:142885461 [GRCh38]
Chr7:142583206 [GRCh37]
Chr7:7q34
uncertain significance
NM_018646.6(TRPV6):c.1055C>T (p.Pro352Leu) single nucleotide variant Inborn genetic diseases [RCV004680206] Chr7:142875655 [GRCh38]
Chr7:142573408 [GRCh37]
Chr7:7q34
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2594
Count of miRNA genes:886
Interacting mature miRNAs:1088
Transcripts:ENST00000359396, ENST00000431833, ENST00000436401, ENST00000463646, ENST00000474388, ENST00000485138, ENST00000487077, ENST00000489123
Prediction methods: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
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
407131918GWAS780894_HMastocytosis QTL GWAS780894 (human)0.000001Mastocytosis7142874896142874897Human
406913050GWAS562026_Halcoholic pancreatitis QTL GWAS562026 (human)0.000002alcoholic pancreatitis7142874551142874552Human
407075788GWAS724764_Hhemoglobin A1 measurement QTL GWAS724764 (human)2e-09hemoglobin A1 measurement7142874710142874711Human

Markers in Region
RH71266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,569,068 - 142,569,196UniSTSGRCh37
Build 367142,279,190 - 142,279,318RGDNCBI36
Celera7137,406,370 - 137,406,498RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q33-q35UniSTS
HuRef7136,907,279 - 136,907,407UniSTS
CRA_TCAGchr7v27141,970,932 - 141,971,060UniSTS
GeneMap99-GB4 RH Map7654.89UniSTS
G31055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,571,955 - 142,572,085UniSTSGRCh37
Build 367142,282,077 - 142,282,207RGDNCBI36
Celera7137,409,257 - 137,409,387RGD
Cytogenetic Map7q34UniSTS
HuRef7136,910,166 - 136,910,296UniSTS
CRA_TCAGchr7v27141,973,819 - 141,973,949UniSTS
GDB:4585747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,575,785 - 142,575,861UniSTSGRCh37
Build 367142,285,907 - 142,285,983RGDNCBI36
Celera7137,413,087 - 137,413,163RGD
Cytogenetic Map7q34UniSTS
HuRef7136,913,996 - 136,914,072UniSTS
CRA_TCAGchr7v27141,977,649 - 141,977,725UniSTS
IB201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,568,644 - 142,568,749UniSTSGRCh37
Build 367142,278,766 - 142,278,871RGDNCBI36
Celera7137,405,946 - 137,406,051RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q33-q35UniSTS
HuRef7136,906,855 - 136,906,960UniSTS
CRA_TCAGchr7v27141,970,508 - 141,970,613UniSTS
GeneMap99-GB4 RH Map7653.5UniSTS
Whitehead-RH Map7628.6UniSTS
SHGC-52550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,569,068 - 142,569,208UniSTSGRCh37
Build 367142,279,190 - 142,279,330RGDNCBI36
Celera7137,406,370 - 137,406,510RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q33-q35UniSTS
HuRef7136,907,279 - 136,907,419UniSTS
CRA_TCAGchr7v27141,970,932 - 141,971,072UniSTS
TNG Radiation Hybrid Map764424.0UniSTS
GeneMap99-G3 RH Map76006.0UniSTS
GDB:1318282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,576,233 - 142,576,363UniSTSGRCh37
Build 367142,286,355 - 142,286,485RGDNCBI36
Celera7137,413,535 - 137,413,665RGD
Cytogenetic Map7q34UniSTS
HuRef7136,914,444 - 136,914,574UniSTS
CRA_TCAGchr7v27141,978,097 - 141,978,227UniSTS


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
1181 2340 2725 2137 4769 1608 2113 5 546 1317 387 2169 6248 5676 10 3631 743 1668 1459 168

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_050669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC239618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF365927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF365928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ243501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY203947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF534785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT135151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000359396   ⟹   ENSP00000352358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,871,208 - 142,885,745 (-)Ensembl
Ensembl Acc Id: ENST00000431833   ⟹   ENSP00000415917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,877,240 - 142,877,979 (-)Ensembl
Ensembl Acc Id: ENST00000436401   ⟹   ENSP00000411100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,874,098 - 142,885,745 (-)Ensembl
Ensembl Acc Id: ENST00000474388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,876,114 - 142,876,808 (-)Ensembl
Ensembl Acc Id: ENST00000485138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,871,209 - 142,876,540 (-)Ensembl
Ensembl Acc Id: ENST00000489123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,876,824 - 142,877,955 (-)Ensembl
Ensembl Acc Id: ENST00000615386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,871,213 - 142,885,389 (-)Ensembl
Ensembl Acc Id: ENST00000619250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,873,814 - 142,876,444 (-)Ensembl
RefSeq Acc Id: NM_018646   ⟹   NP_061116
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,871,208 - 142,885,745 (-)NCBI
GRCh377142,568,956 - 142,583,490 (-)NCBI
Build 367142,279,082 - 142,293,599 (-)NCBI Archive
HuRef7136,907,167 - 136,921,549 (-)NCBI
CHM1_17142,505,175 - 142,519,717 (-)NCBI
T2T-CHM13v2.07144,227,023 - 144,241,552 (-)NCBI
CRA_TCAGchr7v27141,970,820 - 141,985,355 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_061116 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB40152 (Get FASTA)   NCBI Sequence Viewer  
  AAG41951 (Get FASTA)   NCBI Sequence Viewer  
  AAH34814 (Get FASTA)   NCBI Sequence Viewer  
  AAK50426 (Get FASTA)   NCBI Sequence Viewer  
  AAL40230 (Get FASTA)   NCBI Sequence Viewer  
  AAM00356 (Get FASTA)   NCBI Sequence Viewer  
  AAO38052 (Get FASTA)   NCBI Sequence Viewer  
  AAP34470 (Get FASTA)   NCBI Sequence Viewer  
  AHA85010 (Get FASTA)   NCBI Sequence Viewer  
  BAC11402 (Get FASTA)   NCBI Sequence Viewer  
  BAC11471 (Get FASTA)   NCBI Sequence Viewer  
  BAF84396 (Get FASTA)   NCBI Sequence Viewer  
  CAA58757 (Get FASTA)   NCBI Sequence Viewer  
  CAB92352 (Get FASTA)   NCBI Sequence Viewer  
  CAC20416 (Get FASTA)   NCBI Sequence Viewer  
  CAC20417 (Get FASTA)   NCBI Sequence Viewer  
  CAD32311 (Get FASTA)   NCBI Sequence Viewer  
  EAL23776 (Get FASTA)   NCBI Sequence Viewer  
  EAW51897 (Get FASTA)   NCBI Sequence Viewer  
  EAW51898 (Get FASTA)   NCBI Sequence Viewer  
  EAW51899 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000352358
  ENSP00000352358.5
  ENSP00000411100.1
  ENSP00000415917.1
  ENSP00000479828.1
  ENSP00000487762.1
  ENSP00000488490.1
GenBank Protein Q9H1D0 (Get FASTA)   NCBI Sequence Viewer  
  UVI11505 (Get FASTA)   NCBI Sequence Viewer  
  UVI11506 (Get FASTA)   NCBI Sequence Viewer  
  UVI11507 (Get FASTA)   NCBI Sequence Viewer  
  UVI11508 (Get FASTA)   NCBI Sequence Viewer  
  UVI11509 (Get FASTA)   NCBI Sequence Viewer  
  UVI11510 (Get FASTA)   NCBI Sequence Viewer  
  UVI11511 (Get FASTA)   NCBI Sequence Viewer  
  UVI11512 (Get FASTA)   NCBI Sequence Viewer  
  UVI11513 (Get FASTA)   NCBI Sequence Viewer  
  UVI11514 (Get FASTA)   NCBI Sequence Viewer  
  UVI11515 (Get FASTA)   NCBI Sequence Viewer  
  UVI11516 (Get FASTA)   NCBI Sequence Viewer  
  UVI11517 (Get FASTA)   NCBI Sequence Viewer  
  UVI11518 (Get FASTA)   NCBI Sequence Viewer  
  UVI11519 (Get FASTA)   NCBI Sequence Viewer  
  UVI11520 (Get FASTA)   NCBI Sequence Viewer  
  UVI11521 (Get FASTA)   NCBI Sequence Viewer  
  UVI11522 (Get FASTA)   NCBI Sequence Viewer  
  UVI11523 (Get FASTA)   NCBI Sequence Viewer  
  UVI11524 (Get FASTA)   NCBI Sequence Viewer  
  UVI11525 (Get FASTA)   NCBI Sequence Viewer  
  UVI11526 (Get FASTA)   NCBI Sequence Viewer  
  UVI11527 (Get FASTA)   NCBI Sequence Viewer  
  UVI11528 (Get FASTA)   NCBI Sequence Viewer  
  UVI11529 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_061116   ⟸   NM_018646
- UniProtKB: Q9H1D1 (UniProtKB/Swiss-Prot),   Q96LC5 (UniProtKB/Swiss-Prot),   Q8WXR8 (UniProtKB/Swiss-Prot),   Q8TDL3 (UniProtKB/Swiss-Prot),   A4D2I8 (UniProtKB/Swiss-Prot),   Q9H296 (UniProtKB/Swiss-Prot),   Q9H1D0 (UniProtKB/Swiss-Prot),   A0A1X7SBT1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352358   ⟸   ENST00000359396
Ensembl Acc Id: ENSP00000415917   ⟸   ENST00000431833
Ensembl Acc Id: ENSP00000411100   ⟸   ENST00000436401
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H1D0-F1-model_v2 AlphaFold Q9H1D0 1-765 view protein structure

Promoters
RGD ID:7212143
Promoter ID:EPDNEW_H11818
Type:initiation region
Name:TRPV6_1
Description:transient receptor potential cation channel subfamily V member6
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
GRCh387142,885,745 - 142,885,805EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14006 AgrOrtholog
COSMIC TRPV6 COSMIC
Ensembl Genes ENSG00000165125 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276971 UniProtKB/TrEMBL
Ensembl Transcript ENST00000359396 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000359396.9 UniProtKB/Swiss-Prot
  ENST00000431833.1 UniProtKB/TrEMBL
  ENST00000436401.1 UniProtKB/TrEMBL
  ENST00000611485.2 UniProtKB/TrEMBL
  ENST00000633318.1 UniProtKB/TrEMBL
  ENST00000633826.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165125 GTEx
  ENSG00000276971 GTEx
HGNC ID HGNC:14006 ENTREZGENE
Human Proteome Map TRPV6 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV5/TRPV6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV6_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55503 UniProtKB/Swiss-Prot
NCBI Gene 55503 ENTREZGENE
OMIM 606680 OMIM
PANTHER PTHR10582 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY V MEMBER 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37832 PharmGKB
PRINTS ANKYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECACCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ECACCHANNEL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JMR5_HUMAN UniProtKB/TrEMBL
  A0A0J9YW11_HUMAN UniProtKB/TrEMBL
  A0A0J9YXP5_HUMAN UniProtKB/TrEMBL
  A0A1X7SBT1 ENTREZGENE, UniProtKB/TrEMBL
  A4D2I8 ENTREZGENE
  C9J9W0_HUMAN UniProtKB/TrEMBL
  C9JHY1_HUMAN UniProtKB/TrEMBL
  Q8TDL3 ENTREZGENE
  Q8WXR8 ENTREZGENE
  Q96LC5 ENTREZGENE
  Q9H1D0 ENTREZGENE
  Q9H1D1 ENTREZGENE
  Q9H296 ENTREZGENE
  TRPV6_HUMAN UniProtKB/Swiss-Prot
  V5NAT2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A4D2I8 UniProtKB/Swiss-Prot
  Q8TDL3 UniProtKB/Swiss-Prot
  Q8WXR8 UniProtKB/Swiss-Prot
  Q96LC5 UniProtKB/Swiss-Prot
  Q9H1D1 UniProtKB/Swiss-Prot
  Q9H296 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPV6  transient receptor potential cation channel subfamily V member 6    transient receptor potential cation channel, subfamily V, member 6  Symbol and/or name change 5135510 APPROVED