PRKG1 (protein kinase cGMP-dependent 1) - Rat Genome Database

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Gene: PRKG1 (protein kinase cGMP-dependent 1) Homo sapiens
Analyze
Symbol: PRKG1
Name: protein kinase cGMP-dependent 1
RGD ID: 1322442
HGNC Page HGNC
Description: Enables cGMP-dependent protein kinase activity; calcium channel regulator activity; and identical protein binding activity. Involved in several processes, including negative regulation of platelet aggregation; negative regulation of vascular associated smooth muscle cell migration; and negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoplasm and plasma membrane. Implicated in thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1; AAT8; cGK; cGK 1; cGK1; CGKI; cGKI-alpha; cGKI-BETA; cGMP-dependent protein kinase 1; cGMP-dependent protein kinase I; DKFZp686K042; FLJ36117; MGC71944; PGK; PKG; PKG1; PRKG1B; PRKGR1B; protein kinase, cGMP-dependent, regulatory, type I, beta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1050,990,888 - 52,298,423 (+)EnsemblGRCh38hg38GRCh38
GRCh381050,990,888 - 52,298,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371052,750,648 - 54,058,110 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361052,420,951 - 53,725,280 (+)NCBINCBI36hg18NCBI36
Build 341052,504,298 - 53,725,280NCBI
Celera1046,013,603 - 47,318,321 (+)NCBI
Cytogenetic Map10q11.23-q21.1NCBI
HuRef1046,729,527 - 48,036,312 (+)NCBIHuRef
CHM1_11053,032,644 - 54,339,928 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
7-NITROINDAZOLE  (ISO)
8-(4-chlorophenylthio)-cGMP  (EXP,ISO)
8-bromo-3',5'-cyclic GMP  (EXP,ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aldehydo-D-glucose  (ISO)
ammonia  (ISO)
apocynin  (ISO)
arsenite(3-)  (ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
calyculin a  (EXP)
captan  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (EXP)
cyclosporin A  (ISO)
D-glucose  (ISO)
dexamethasone  (EXP)
dibenziodolium  (ISO)
diethyl malate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ellagic acid  (EXP)
fluoxetine  (ISO)
folpet  (ISO)
formaldehyde  (ISO)
geldanamycin  (EXP)
glucose  (ISO)
hydralazine  (EXP)
indometacin  (EXP)
KT 5823  (EXP)
lead diacetate  (ISO)
menadione  (ISO)
methamphetamine  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mevinphos  (ISO)
monocrotaline  (ISO)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
nitroglycerin  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
O-methyleugenol  (EXP)
okadaic acid  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
SB 431542  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
sucrose  (ISO)
sulindac sulfone  (EXP)
tadalafil  (ISO)
tamoxifen  (ISO)
testosterone enanthate  (EXP,ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptorelin  (ISO)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vorinostat  (EXP)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Andric SA, etal., Biol Reprod. 2010 Sep;83(3):434-42. doi: 10.1095/biolreprod.110.083626. Epub 2010 May 12.
2. Bivalacqua TJ, etal., BJU Int. 2007 Jun;99(6):1488-94. Epub 2007 Mar 12.
3. Gerzanich V, etal., Circ Res. 2003 Oct 31;93(9):805-12. Epub 2003 Sep 25.
4. Giricz Z, etal., Br J Pharmacol. 2009 Nov;158(6):1495-502. doi: 10.1111/j.1476-5381.2009.00424.x. Epub 2009 Oct 20.
5. GOA_HUMAN data from the GO Consortium
6. Jaumann M, etal., Nat Med. 2012 Jan 22;18(2):252-9. doi: 10.1038/nm.2634.
7. Maas O, etal., Br J Pharmacol. 2008 May;154(1):25-31. doi: 10.1038/bjp.2008.71. Epub 2008 Mar 10.
8. OMIM Disease Annotation Pipeline
9. Pipeline to import KEGG annotations from KEGG into RGD
10. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
11. Piwkowska A, etal., Biochim Biophys Acta. 2013 Jun;1832(6):791-804. doi: 10.1016/j.bbadis.2013.02.011. Epub 2013 Feb 21.
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Sakai H, etal., Microvasc Res. 2013 Nov;90:150-3. doi: 10.1016/j.mvr.2013.08.009. Epub 2013 Sep 5.
16. Soro-Paavonen A, etal., J Hypertens. 2010 Apr;28(4):780-8. doi: 10.1097/HJH.0b013e328335043e.
17. Tegeder I, etal., Neurosci Lett. 2002 Oct 31;332(2):146-50.
18. Tegeder I, etal., Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):3253-7. Epub 2004 Feb 18.
19. Zanetti M, etal., Atherosclerosis. 2005 Jul;181(1):69-73. Epub 2005 Feb 12.
Additional References at PubMed
PMID:1377674   PMID:1544322   PMID:2168396   PMID:2792381   PMID:7589584   PMID:8132598   PMID:8182057   PMID:8380342   PMID:8613202   PMID:8663267   PMID:8688081   PMID:9192852  
PMID:9687510   PMID:9829964   PMID:10051666   PMID:10449420   PMID:10567269   PMID:10601315   PMID:10671526   PMID:10681529   PMID:10724174   PMID:10851246   PMID:10922374   PMID:11175347  
PMID:11278298   PMID:11278415   PMID:11309393   PMID:11884369   PMID:12082086   PMID:12082111   PMID:12119292   PMID:12175859   PMID:12237340   PMID:12477932   PMID:12480535   PMID:12571245  
PMID:12574812   PMID:12609995   PMID:12855709   PMID:12933804   PMID:14532276   PMID:14608379   PMID:14679200   PMID:14702039   PMID:14983059   PMID:15051728   PMID:15107017   PMID:15164054  
PMID:15192100   PMID:15280395   PMID:15489334   PMID:15556942   PMID:15632203   PMID:15711749   PMID:15851553   PMID:15905169   PMID:15917860   PMID:16131665   PMID:16166082   PMID:16249377  
PMID:16331690   PMID:16344560   PMID:16385451   PMID:16407222   PMID:16632465   PMID:16990611   PMID:17601797   PMID:17904578   PMID:17975119   PMID:18029348   PMID:18194177   PMID:18496125  
PMID:18519826   PMID:18593937   PMID:18617565   PMID:18757735   PMID:18782776   PMID:18945831   PMID:18983522   PMID:19023099   PMID:19023132   PMID:19424179   PMID:19487814   PMID:19656393  
PMID:19851296   PMID:19913121   PMID:19961855   PMID:19996273   PMID:20006992   PMID:20043968   PMID:20068229   PMID:20182759   PMID:20198315   PMID:20301299   PMID:20348951   PMID:20371672  
PMID:20379614   PMID:20567233   PMID:20600009   PMID:20628086   PMID:20732627   PMID:20826808   PMID:21160032   PMID:21402151   PMID:21414799   PMID:21451103   PMID:21479273   PMID:21526164  
PMID:21563174   PMID:21697861   PMID:21873635   PMID:21907864   PMID:22020285   PMID:22095901   PMID:22293199   PMID:22580283   PMID:22791569   PMID:22806632   PMID:23066013   PMID:23195829  
PMID:23251661   PMID:23382691   PMID:23404188   PMID:23416533   PMID:23418348   PMID:23686857   PMID:23755100   PMID:23770744   PMID:23793025   PMID:23814119   PMID:23831687   PMID:23876037  
PMID:23910461   PMID:24060892   PMID:24060898   PMID:24163370   PMID:24239458   PMID:24469460   PMID:24666322   PMID:24826884   PMID:25271401   PMID:25273530   PMID:25338677   PMID:25342443  
PMID:25416956   PMID:25447536   PMID:25855081   PMID:25900831   PMID:26132214   PMID:26370085   PMID:27009048   PMID:27381222   PMID:27442293   PMID:27564115   PMID:27729549   PMID:27782102  
PMID:27978504   PMID:28265120   PMID:28514442   PMID:28793191   PMID:30195474   PMID:30376604   PMID:30700906   PMID:30782798   PMID:30871887   PMID:31186362   PMID:31391242   PMID:31515488  
PMID:31911580   PMID:32096871   PMID:32296183   PMID:32460013   PMID:32506052   PMID:32773598  


Genomics

Comparative Map Data
PRKG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1050,990,888 - 52,298,423 (+)EnsemblGRCh38hg38GRCh38
GRCh381050,990,888 - 52,298,350 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371052,750,648 - 54,058,110 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361052,420,951 - 53,725,280 (+)NCBINCBI36hg18NCBI36
Build 341052,504,298 - 53,725,280NCBI
Celera1046,013,603 - 47,318,321 (+)NCBI
Cytogenetic Map10q11.23-q21.1NCBI
HuRef1046,729,527 - 48,036,312 (+)NCBIHuRef
CHM1_11053,032,644 - 54,339,928 (+)NCBICHM1_1
Prkg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391930,541,887 - 31,742,667 (-)NCBIGRCm39mm39
GRCm39 Ensembl1930,541,889 - 31,742,433 (-)Ensembl
GRCm381930,564,487 - 31,765,268 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1930,564,489 - 31,765,033 (-)EnsemblGRCm38mm10GRCm38
MGSCv371930,642,041 - 31,839,523 (-)NCBIGRCm37mm9NCBIm37
MGSCv361930,633,548 - 31,831,030 (-)NCBImm8
Celera1931,351,778 - 32,553,439 (-)NCBICelera
Cytogenetic Map19C1NCBI
Prkg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21228,409,883 - 229,638,794 (-)NCBI
Rnor_6.01248,982,039 - 250,300,952 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01256,221,067 - 257,537,289 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41234,420,597 - 235,765,375 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11235,515,049 - 235,845,833 (-)NCBI
Celera1225,545,145 - 226,760,176 (-)NCBICelera
Cytogenetic Map1q52NCBI
Prkg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554256,176,432 - 7,331,446 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554256,176,335 - 7,335,867 (+)NCBIChiLan1.0ChiLan1.0
PRKG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11049,778,821 - 51,069,314 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1049,779,211 - 51,064,882 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01047,642,312 - 48,935,188 (+)NCBIMhudiblu_PPA_v0panPan3
PRKG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12635,732,974 - 36,932,744 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2635,737,242 - 36,932,729 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2635,620,229 - 36,818,502 (-)NCBI
ROS_Cfam_1.02637,271,288 - 38,465,630 (-)NCBI
UMICH_Zoey_3.12635,169,158 - 36,367,548 (-)NCBI
UNSW_CanFamBas_1.02634,756,074 - 35,955,695 (-)NCBI
UU_Cfam_GSD_1.02635,996,645 - 37,196,072 (-)NCBI
Prkg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721375,309,475 - 76,469,932 (-)NCBI
SpeTri2.0NW_004936787330,390 - 1,491,994 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1497,560,785 - 98,793,318 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11497,558,531 - 98,793,080 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214106,256,149 - 107,028,245 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.214107,499,623 - 107,663,552 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PRKG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1978,858,269 - 80,188,163 (-)NCBI
Vero_WHO_p1.0NW_02366604839,812,502 - 40,750,048 (-)NCBI
Prkg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479111,334,146 - 12,656,480 (-)NCBI

Position Markers
D10S567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,915,422 - 53,915,613UniSTSGRCh37
GRCh371053,915,563 - 53,915,657UniSTSGRCh37
Build 361053,585,428 - 53,585,619RGDNCBI36
Celera1047,178,264 - 47,178,358UniSTS
Celera1047,178,112 - 47,178,314RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,893,709 - 47,893,803UniSTS
HuRef1047,893,554 - 47,893,759UniSTS
Marshfield Genetic Map1071.83UniSTS
Marshfield Genetic Map1071.83RGD
Genethon Genetic Map1074.2UniSTS
TNG Radiation Hybrid Map1023899.0UniSTS
deCODE Assembly Map1071.05UniSTS
Stanford-G3 RH Map102586.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map102562.0UniSTS
D10S568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,729,732 - 53,729,898UniSTSGRCh37
GRCh371053,729,738 - 53,729,893UniSTSGRCh37
Build 361053,399,738 - 53,399,904RGDNCBI36
Celera1046,992,499 - 46,992,647RGD
Celera1046,992,505 - 46,992,642UniSTS
Cytogenetic Map10q11.2UniSTS
HuRef1047,707,921 - 47,708,069UniSTS
HuRef1047,707,927 - 47,708,064UniSTS
Marshfield Genetic Map1071.83UniSTS
Marshfield Genetic Map1071.83RGD
Genethon Genetic Map1074.2UniSTS
Stanford-G3 RH Map102569.0UniSTS
GeneMap99-GB4 RH Map10322.64UniSTS
Whitehead-RH Map10400.7UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map102545.0UniSTS
STS-H97927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371052,749,755 - 52,749,957UniSTSGRCh37
Build 361052,419,761 - 52,419,963RGDNCBI36
Celera1046,012,409 - 46,012,615RGD
Cytogenetic Map10q11.2UniSTS
HuRef1046,728,367 - 46,728,573UniSTS
GeneMap99-GB4 RH Map10313.21UniSTS
G10176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,812,143 - 53,812,349UniSTSGRCh37
Build 361053,482,149 - 53,482,355RGDNCBI36
Celera1047,074,834 - 47,075,040RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,790,288 - 47,790,494UniSTS
STS-H95817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371052,981,278 - 52,981,429UniSTSGRCh37
Build 361052,651,284 - 52,651,435RGDNCBI36
Celera1046,243,964 - 46,244,115RGD
Cytogenetic Map10q11.2UniSTS
HuRef1046,960,203 - 46,960,354UniSTS
GeneMap99-GB4 RH Map10317.26UniSTS
WI-15606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,455,264 - 53,455,394UniSTSGRCh37
Build 361053,125,270 - 53,125,400RGDNCBI36
Celera1046,718,026 - 46,718,156RGD
Cytogenetic Map10q11UniSTS
Cytogenetic Map10q11.2UniSTS
HuRef1047,433,345 - 47,433,475UniSTS
GeneMap99-GB4 RH Map10322.72UniSTS
Whitehead-RH Map10401.1UniSTS
D10S1195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,696,209 - 53,696,361UniSTSGRCh37
Build 361053,366,215 - 53,366,367RGDNCBI36
Celera1046,958,977 - 46,959,129RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,674,404 - 47,674,556UniSTS
Stanford-G3 RH Map102558.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10635.9UniSTS
SHGC-80830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,228,359 - 53,228,660UniSTSGRCh37
Build 361052,898,365 - 52,898,666RGDNCBI36
Celera1046,491,089 - 46,491,390RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,206,393 - 47,206,694UniSTS
TNG Radiation Hybrid Map1023469.0UniSTS
SHGC-84604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,309,284 - 53,309,613UniSTSGRCh37
Build 361052,979,290 - 52,979,619RGDNCBI36
Celera1046,572,013 - 46,572,342RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,287,442 - 47,287,771UniSTS
TNG Radiation Hybrid Map1023497.0UniSTS
SHGC-81463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,455,174 - 53,455,444UniSTSGRCh37
Build 361053,125,180 - 53,125,450RGDNCBI36
Celera1046,717,936 - 46,718,206RGD
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map10q11UniSTS
HuRef1047,433,255 - 47,433,525UniSTS
TNG Radiation Hybrid Map1023564.0UniSTS
TNG Radiation Hybrid Map1023589.0UniSTS
RH118458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,244,608 - 53,244,915UniSTSGRCh37
Build 361052,914,614 - 52,914,921RGDNCBI36
Celera1046,507,335 - 46,507,642RGD
Cytogenetic Map10q11.2UniSTS
TNG Radiation Hybrid Map1023472.0UniSTS
RH120304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,105,341 - 53,105,666UniSTSGRCh37
Build 361052,775,347 - 52,775,672RGDNCBI36
Celera1046,368,026 - 46,368,351RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,083,979 - 47,084,304UniSTS
TNG Radiation Hybrid Map1023444.0UniSTS
RH119946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,587,457 - 53,587,759UniSTSGRCh37
Build 361053,257,463 - 53,257,765RGDNCBI36
Celera1046,850,219 - 46,850,521RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,565,534 - 47,565,836UniSTS
TNG Radiation Hybrid Map1023673.0UniSTS
RH121149  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,467,210 - 53,467,508UniSTSGRCh37
Build 361053,137,216 - 53,137,514RGDNCBI36
Celera1046,729,972 - 46,730,270RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,445,291 - 47,445,589UniSTS
TNG Radiation Hybrid Map1023602.0UniSTS
RH122793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,192,488 - 53,192,810UniSTSGRCh37
Build 361052,862,494 - 52,862,816RGDNCBI36
Celera1046,455,218 - 46,455,540RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,170,522 - 47,170,844UniSTS
TNG Radiation Hybrid Map1023458.0UniSTS
GDB:193872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,054,983 - 54,055,083UniSTSGRCh37
Build 361053,724,989 - 53,725,089RGDNCBI36
Celera1047,318,030 - 47,318,130RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,033,185 - 48,033,285UniSTS
SHGC-111555  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,943,141 - 53,943,420UniSTSGRCh37
Build 361053,613,147 - 53,613,426RGDNCBI36
Celera1047,205,837 - 47,206,116RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,921,324 - 47,921,603UniSTS
TNG Radiation Hybrid Map1023913.0UniSTS
SHGC-112296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,120,377 - 53,120,661UniSTSGRCh37
Build 361052,790,383 - 52,790,667RGDNCBI36
Celera1046,383,073 - 46,383,357RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,099,030 - 47,099,314UniSTS
TNG Radiation Hybrid Map1023447.0UniSTS
SHGC-106527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,620,290 - 53,620,587UniSTSGRCh37
Build 361053,290,296 - 53,290,593RGDNCBI36
Celera1046,883,010 - 46,883,307RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,598,440 - 47,598,737UniSTS
TNG Radiation Hybrid Map1023702.0UniSTS
SHGC-106825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,628,170 - 53,628,487UniSTSGRCh37
Build 361053,298,176 - 53,298,493RGDNCBI36
Celera1046,890,903 - 46,891,220RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,606,333 - 47,606,650UniSTS
TNG Radiation Hybrid Map1023706.0UniSTS
SHGC-152619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,729,733 - 53,729,952UniSTSGRCh37
Build 361053,399,739 - 53,399,958RGDNCBI36
Celera1046,992,500 - 46,992,701RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,707,922 - 47,708,123UniSTS
G17500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,445,179 - 53,445,356UniSTSGRCh37
Build 361053,115,185 - 53,115,362RGDNCBI36
Celera1046,707,936 - 46,708,113RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,423,270 - 47,423,447UniSTS
SHGC-111919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,835,218 - 53,835,518UniSTSGRCh37
Build 361053,505,224 - 53,505,524RGDNCBI36
Celera1047,097,911 - 47,098,211RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,813,379 - 47,813,679UniSTS
TNG Radiation Hybrid Map1023801.0UniSTS
STS-H95359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,974,542 - 53,974,675UniSTSGRCh37
Build 361053,644,548 - 53,644,681RGDNCBI36
Celera1047,237,165 - 47,237,298RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,952,656 - 47,952,789UniSTS
GeneMap99-GB4 RH Map10319.75UniSTS
SHGC-36560  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371052,952,275 - 52,952,359UniSTSGRCh37
Build 361052,622,281 - 52,622,365RGDNCBI36
Celera1046,214,962 - 46,215,046RGD
Cytogenetic Map10q11.2UniSTS
HuRef1046,930,963 - 46,931,047UniSTS
Stanford-G3 RH Map102365.0UniSTS
GeneMap99-G3 RH Map102341.0UniSTS
AFM308XA9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371052,930,156 - 52,930,258UniSTSGRCh37
Build 361052,600,162 - 52,600,264RGDNCBI36
Celera1046,192,861 - 46,192,963RGD
Cytogenetic Map10q11.2UniSTS
HuRef1046,908,615 - 46,908,715UniSTS
Whitehead-YAC Contig Map10 UniSTS
G17455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,016,434 - 53,016,614UniSTSGRCh37
Build 361052,686,440 - 52,686,620RGDNCBI36
Celera1046,279,124 - 46,279,304RGD
Cytogenetic Map10q11.2UniSTS
G09557  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,742,483 - 53,742,599UniSTSGRCh37
Build 361053,412,489 - 53,412,605RGDNCBI36
Celera1047,005,233 - 47,005,349RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,720,656 - 47,720,772UniSTS
WI-11512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,080,690 - 53,080,815UniSTSGRCh37
Build 361052,750,696 - 52,750,821RGDNCBI36
Celera1046,343,380 - 46,343,505RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,059,342 - 47,059,467UniSTS
GeneMap99-GB4 RH Map10322.53UniSTS
Whitehead-RH Map10394.6UniSTS
NCBI RH Map10637.8UniSTS
D10S2283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371052,855,400 - 52,855,674UniSTSGRCh37
Build 361052,525,406 - 52,525,680RGDNCBI36
Celera1046,118,133 - 46,118,407RGD
Cytogenetic Map10q11.2UniSTS
HuRef1046,833,804 - 46,834,078UniSTS
Whitehead-RH Map10381.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH46235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,419,659 - 53,419,804UniSTSGRCh37
Build 361053,089,665 - 53,089,810RGDNCBI36
Celera1046,682,420 - 46,682,565RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,397,754 - 47,397,899UniSTS
GeneMap99-GB4 RH Map10323.37UniSTS
NCBI RH Map10637.3UniSTS
D10S1458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,668,073 - 53,668,200UniSTSGRCh37
Build 361053,338,079 - 53,338,206RGDNCBI36
Celera1046,930,822 - 46,930,949RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,646,245 - 47,646,372UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH70960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,055,001 - 54,055,238UniSTSGRCh37
Build 361053,725,007 - 53,725,244RGDNCBI36
Celera1047,318,048 - 47,318,285RGD
Cytogenetic Map10q11.2UniSTS
HuRef1048,033,203 - 48,033,440UniSTS
GeneMap99-GB4 RH Map10320.41UniSTS
NCBI RH Map10638.6UniSTS
D10S2341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371053,154,503 - 53,154,611UniSTSGRCh37
Build 361052,824,509 - 52,824,617RGDNCBI36
Celera1046,417,235 - 46,417,343RGD
Cytogenetic Map10q11.2UniSTS
HuRef1047,132,637 - 47,132,745UniSTS
PRKG1__5582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371054,054,641 - 54,055,346UniSTSGRCh37
Build 361053,724,647 - 53,725,352RGDNCBI36
Celera1047,317,688 - 47,318,393RGD
HuRef1048,032,843 - 48,033,548UniSTS
D10S568  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q11.2UniSTS
Stanford-G3 RH Map102569.0UniSTS
GeneMap99-G3 RH Map102545.0UniSTS
D10S567  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q11.2UniSTS
TNG Radiation Hybrid Map1023899.0UniSTS
Stanford-G3 RH Map102586.0UniSTS
GeneMap99-G3 RH Map102562.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3726
Count of miRNA genes:833
Interacting mature miRNAs:988
Transcripts:ENST00000373975, ENST00000373976, ENST00000373980, ENST00000373985, ENST00000401604
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1058 1391 245 1 32 2 1438 1000 30 49 278 559 292 1168 1
Low 1292 831 1272 424 541 262 2799 1166 3500 317 1074 924 170 1 912 1603 4 1
Below cutoff 49 720 194 190 909 193 111 18 181 24 74 78 4 17 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL599933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL607031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL731537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL928686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ445850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX097700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX117079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX952280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD723759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA150150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA646702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA915933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB138350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC310312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC379897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z92885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1052,046,867 - 52,294,176 (+)Ensembl
RefSeq Acc Id: ENST00000373976   ⟹   ENSP00000363087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,074,570 - 52,062,856 (+)Ensembl
RefSeq Acc Id: ENST00000373980   ⟹   ENSP00000363092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,074,487 - 52,298,350 (+)Ensembl
RefSeq Acc Id: ENST00000401604   ⟹   ENSP00000384200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1050,990,888 - 52,298,350 (+)Ensembl
RefSeq Acc Id: ENST00000643582   ⟹   ENSP00000495279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,074,510 - 51,911,205 (+)Ensembl
RefSeq Acc Id: ENST00000643704   ⟹   ENSP00000496551
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,074,510 - 51,909,460 (+)Ensembl
RefSeq Acc Id: ENST00000645324   ⟹   ENSP00000494124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,074,304 - 52,062,862 (+)Ensembl
RefSeq Acc Id: ENST00000645790
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1051,467,723 - 51,568,789 (+)Ensembl
RefSeq Acc Id: ENST00000646354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1052,046,748 - 52,185,074 (+)Ensembl
RefSeq Acc Id: ENST00000672084   ⟹   ENSP00000499822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1052,128,346 - 52,298,423 (+)Ensembl
RefSeq Acc Id: NM_001098512   ⟹   NP_001091982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,990,888 - 52,298,350 (+)NCBI
GRCh371052,750,911 - 54,058,110 (+)NCBI
Build 361052,420,951 - 53,725,280 (+)NCBI Archive
HuRef1046,729,527 - 48,036,312 (+)NCBI
CHM1_11053,032,644 - 54,339,928 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374781   ⟹   NP_001361710
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381052,046,756 - 52,298,350 (+)NCBI
RefSeq Acc Id: NM_001374782   ⟹   NP_001361711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,074,487 - 52,062,866 (+)NCBI
RefSeq Acc Id: NM_006258   ⟹   NP_006249
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,074,487 - 52,298,350 (+)NCBI
GRCh371052,750,911 - 54,058,110 (+)NCBI
Build 361052,504,240 - 53,725,280 (+)NCBI Archive
HuRef1046,729,527 - 48,036,312 (+)NCBI
CHM1_11053,116,012 - 54,339,928 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539952   ⟹   XP_011538254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,074,130 - 52,186,029 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016412   ⟹   XP_016871901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,147,284 - 52,298,350 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016413   ⟹   XP_016871902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,074,934 - 52,298,350 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001091982   ⟸   NM_001098512
- Peptide Label: isoform 1
- UniProtKB: Q13976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006249   ⟸   NM_006258
- Peptide Label: isoform 2
- UniProtKB: Q13976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538254   ⟸   XM_011539952
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871902   ⟸   XM_017016413
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016871901   ⟸   XM_017016412
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001361711   ⟸   NM_001374782
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001361710   ⟸   NM_001374781
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000363087   ⟸   ENST00000373976
RefSeq Acc Id: ENSP00000363092   ⟸   ENST00000373980
RefSeq Acc Id: ENSP00000384200   ⟸   ENST00000401604
RefSeq Acc Id: ENSP00000496551   ⟸   ENST00000643704
RefSeq Acc Id: ENSP00000495279   ⟸   ENST00000643582
RefSeq Acc Id: ENSP00000494124   ⟸   ENST00000645324
RefSeq Acc Id: ENSP00000499822   ⟸   ENST00000672084
Promoters
RGD ID:7217557
Promoter ID:EPDNEW_H14525
Type:initiation region
Name:PRKG1_3
Description:protein kinase, cGMP-dependent, type I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14521  EPDNEW_H14526  EPDNEW_H14527  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,990,891 - 50,990,951EPDNEW
RGD ID:7217561
Promoter ID:EPDNEW_H14526
Type:initiation region
Name:PRKG1_4
Description:protein kinase, cGMP-dependent, type I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14521  EPDNEW_H14525  EPDNEW_H14527  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,991,124 - 50,991,184EPDNEW
RGD ID:7217563
Promoter ID:EPDNEW_H14527
Type:initiation region
Name:PRKG1_2
Description:protein kinase, cGMP-dependent, type I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14521  EPDNEW_H14525  EPDNEW_H14526  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381051,074,487 - 51,074,547EPDNEW
RGD ID:6788015
Promoter ID:HG_KWN:9602
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000048103,   UC001JJN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361052,503,626 - 52,504,227 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006258.4(PRKG1):c.568T>C (p.Cys190Arg) single nucleotide variant not provided [RCV000520510] Chr10:51467812 [GRCh38]
Chr10:53227572 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.542T>C (p.Phe181Ser) single nucleotide variant not provided [RCV000523055] Chr10:51467786 [GRCh38]
Chr10:53227546 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.2014G>A (p.Asp672Asn) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000525690]|not provided [RCV001527314] Chr10:52293853 [GRCh38]
Chr10:54053613 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
NM_006258.4(PRKG1):c.1106A>G (p.Asn369Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001223991]|Cardiovascular phenotype [RCV000618578]|not provided [RCV000519794] Chr10:52251599 [GRCh38]
Chr10:54011359 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000055667]|Cardiovascular phenotype [RCV000248773]|not provided [RCV000494178] Chr10:51467819 [GRCh38]
Chr10:53227579 [GRCh37]
Chr10:10q21.1
pathogenic
GRCh38/hg38 10q11.23-21.1(chr10:50348996-51509503)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051626]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051626]|See cases [RCV000051626] Chr10:50348996..51509503 [GRCh38]
Chr10:52108756..53269263 [GRCh37]
Chr10:51778762..52939269 [NCBI36]
Chr10:10q11.23-21.1
uncertain significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
GRCh38/hg38 10q21.1(chr10:51986860-52975790)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053520]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053520]|See cases [RCV000053520] Chr10:51986860..52975790 [GRCh38]
Chr10:53746620..54735550 [GRCh37]
Chr10:53416626..54405556 [NCBI36]
Chr10:10q21.1
benign
NM_001098512.2(PRKG1):c.727G>A (p.Glu243Lys) single nucleotide variant Malignant melanoma [RCV000068972] Chr10:52054493 [GRCh38]
Chr10:53814253 [GRCh37]
Chr10:53484259 [NCBI36]
Chr10:10q21.1
not provided
NM_006258.4(PRKG1):c.1409C>T (p.Ser470Leu) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000458946] Chr10:52280794 [GRCh38]
Chr10:54040554 [GRCh37]
Chr10:53710560 [NCBI36]
Chr10:10q21.1
uncertain significance|not provided
NM_001098512.2(PRKG1):c.1587C>T (p.Ile529=) single nucleotide variant Malignant melanoma [RCV000068974] Chr10:52282239 [GRCh38]
Chr10:54041999 [GRCh37]
Chr10:53712005 [NCBI36]
Chr10:10q21.1
not provided
NM_001098512.2(PRKG1):c.799A>T (p.Asn267Tyr) single nucleotide variant Malignant melanoma [RCV000062042] Chr10:52062540 [GRCh38]
Chr10:53822300 [GRCh37]
Chr10:53492306 [NCBI36]
Chr10:10q21.1
not provided
NM_006258.4(PRKG1):c.298C>T (p.Pro100Ser) single nucleotide variant Connective tissue disease [RCV000660230] Chr10:51074888 [GRCh38]
Chr10:52834648 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.1749C>T (p.Asn583=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001487504]|Connective tissue disease [RCV000660234]|not provided [RCV000872787] Chr10:52288765 [GRCh38]
Chr10:54048525 [GRCh37]
Chr10:10q21.1
likely benign
NM_001098512.2(PRKG1):c.267-68061C>G single nucleotide variant Lung cancer [RCV000109067] Chr10:51085103 [GRCh38]
Chr10:52844863 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_001098512.2(PRKG1):c.267-41751A>T single nucleotide variant Lung cancer [RCV000109068] Chr10:51111413 [GRCh38]
Chr10:52871173 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.433+8048T>A single nucleotide variant Lung cancer [RCV000109069] Chr10:51161378 [GRCh38]
Chr10:52921138 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.434-130192C>G single nucleotide variant Lung cancer [RCV000109070] Chr10:51337531 [GRCh38]
Chr10:53097291 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.434-19666C>T single nucleotide variant Lung cancer [RCV000109071] Chr10:51448057 [GRCh38]
Chr10:53207817 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.434-12544G>C single nucleotide variant Lung cancer [RCV000109072] Chr10:51455179 [GRCh38]
Chr10:53214939 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.547+125972T>C single nucleotide variant Lung cancer [RCV000109073] Chr10:51593808 [GRCh38]
Chr10:53353568 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-168189T>A single nucleotide variant Lung cancer [RCV000109074] Chr10:51636396 [GRCh38]
Chr10:53396156 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-149607C>A single nucleotide variant Lung cancer [RCV000109075] Chr10:51654978 [GRCh38]
Chr10:53414738 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-138542A>G single nucleotide variant Lung cancer [RCV000109076] Chr10:51666043 [GRCh38]
Chr10:53425803 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-79552A>G single nucleotide variant Lung cancer [RCV000109077] Chr10:51725033 [GRCh38]
Chr10:53484793 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-68956A>G single nucleotide variant Lung cancer [RCV000109078] Chr10:51735629 [GRCh38]
Chr10:53495389 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-48377A>T single nucleotide variant Lung cancer [RCV000109079] Chr10:51756208 [GRCh38]
Chr10:53515968 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-42456C>A single nucleotide variant Lung cancer [RCV000109080] Chr10:51762129 [GRCh38]
Chr10:53521889 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.548-36094C>G single nucleotide variant Lung cancer [RCV000109081] Chr10:51768491 [GRCh38]
Chr10:53528251 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.717+28126T>A single nucleotide variant Lung cancer [RCV000109082] Chr10:51935696 [GRCh38]
Chr10:53695456 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.890+23812C>T single nucleotide variant Lung cancer [RCV000109083] Chr10:52086443 [GRCh38]
Chr10:53846203 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.891-32914G>T single nucleotide variant Lung cancer [RCV000109084] Chr10:52100926 [GRCh38]
Chr10:53860686 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.2(PRKG1):c.1031+17407C>G single nucleotide variant Lung cancer [RCV000109085] Chr10:52179370 [GRCh38]
Chr10:53939130 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1545+17C>A single nucleotide variant Connective tissue disease [RCV000660233] Chr10:52280947 [GRCh38]
Chr10:54040707 [GRCh37]
Chr10:10q21.1
likely benign
NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001285889] Chr10:50991391 [GRCh38]
Chr10:52751151 [GRCh37]
Chr10:10q11.23
likely benign
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q21.1(chr10:52074749-52222855)x3 copy number gain See cases [RCV000135033] Chr10:52074749..52222855 [GRCh38]
Chr10:53834509..53982615 [GRCh37]
Chr10:53504515..53652621 [NCBI36]
Chr10:10q21.1
pathogenic|benign
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2
pathogenic
GRCh38/hg38 10q11.23-21.1(chr10:50967523-53709183)x1 copy number loss See cases [RCV000137735] Chr10:50967523..53709183 [GRCh38]
Chr10:52727283..55468943 [GRCh37]
Chr10:52397289..55138949 [NCBI36]
Chr10:10q11.23-21.1
uncertain significance
GRCh38/hg38 10q11.23-21.1(chr10:50453699-51121757)x3 copy number gain See cases [RCV000142261] Chr10:50453699..51121757 [GRCh38]
Chr10:52213459..52881517 [GRCh37]
Chr10:51883465..52551523 [NCBI36]
Chr10:10q11.23-21.1
uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000157424] Chr10:50991417 [GRCh38]
Chr10:52751177 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.2042G>C (p.Gly681Ala) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000191954]|not provided [RCV000522819] Chr10:52293881 [GRCh38]
Chr10:54053641 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000191955]|Cardiovascular phenotype [RCV000245336]|not provided [RCV000994398] Chr10:52280851 [GRCh38]
Chr10:54040611 [GRCh37]
Chr10:10q21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006258.4(PRKG1):c.479-19849_479-16034del deletion Gestational diabetes mellitus uncontrolled [RCV000161592] Chr10:51447874..51451689 [GRCh38]
Chr10:53207634..53211449 [GRCh37]
Chr10:10q21.1
not provided
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000205698]|Cardiovascular phenotype [RCV000620651]|not specified [RCV000419003] Chr10:51153260 [GRCh38]
Chr10:52913020 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1076A>G (p.Lys359Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000208192] Chr10:52161963 [GRCh38]
Chr10:53921723 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1423A>G (p.Thr475Ala) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001207416]|Familial thoracic aortic aneurysm and aortic dissection [RCV000208346] Chr10:52280808 [GRCh38]
Chr10:54040568 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1092G>A (p.Ala364=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001082713]|Cardiovascular phenotype [RCV000620396]|not provided [RCV000543597] Chr10:52251585 [GRCh38]
Chr10:54011345 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1174-9T>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000230575]|not specified [RCV000615052] Chr10:52271341 [GRCh38]
Chr10:54031101 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.39G>A (p.Glu13=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001442521]|not provided [RCV000234639] Chr10:51074629 [GRCh38]
Chr10:52834389 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001002192]|Cardiovascular phenotype [RCV000242345]|Connective tissue disease [RCV000660232]|not specified [RCV000417462] Chr10:52161958 [GRCh38]
Chr10:53921718 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000999783]|Cardiovascular phenotype [RCV000254085]|not specified [RCV000421910] Chr10:51153278 [GRCh38]
Chr10:52913038 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000228938]|Cardiovascular phenotype [RCV000618478]|not specified [RCV000420896] Chr10:52251573 [GRCh38]
Chr10:54011333 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000876587]|not specified [RCV000605588] Chr10:51467766 [GRCh38]
Chr10:53227526 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.2037C>T (p.Asn679=) single nucleotide variant not specified [RCV000605502] Chr10:52293876 [GRCh38]
Chr10:54053636 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1811A>C (p.Asn604Thr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001367196]|Cardiovascular phenotype [RCV000241587] Chr10:52288827 [GRCh38]
Chr10:54048587 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000528377]|not specified [RCV000601698] Chr10:51804667 [GRCh38]
Chr10:53564427 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.676G>A (p.Glu226Lys) single nucleotide variant Cardiovascular phenotype [RCV000244601] Chr10:51804668 [GRCh38]
Chr10:53564428 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001083038]|Cardiovascular phenotype [RCV000244663]|not specified [RCV000613155] Chr10:52271475 [GRCh38]
Chr10:54031235 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000464408]|Cardiovascular phenotype [RCV000242382]|not specified [RCV000420741] Chr10:52062584 [GRCh38]
Chr10:53822344 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1173+4G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001202766]|Cardiovascular phenotype [RCV000250019]|not specified [RCV000609158] Chr10:52251670 [GRCh38]
Chr10:54011430 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000465669]|Cardiovascular phenotype [RCV000250044]|not specified [RCV000441208] Chr10:52161895 [GRCh38]
Chr10:53921655 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1144G>A (p.Gly382Arg) single nucleotide variant not provided [RCV000521541] Chr10:52251637 [GRCh38]
Chr10:54011397 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1929A>G (p.Arg643=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000551765] Chr10:52290257 [GRCh38]
Chr10:54050017 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.790A>G (p.Ile264Val) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001243447]|Cardiovascular phenotype [RCV000618997]|not provided [RCV000585604] Chr10:52054511 [GRCh38]
Chr10:53814271 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.153G>C (p.Ser51=) single nucleotide variant not specified [RCV000605088] Chr10:51074743 [GRCh38]
Chr10:52834503 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1879G>T (p.Asp627Tyr) single nucleotide variant Cardiovascular phenotype [RCV000621875] Chr10:52288977 [GRCh38]
Chr10:54048737 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
NM_006258.4(PRKG1):c.395A>G (p.Asp132Gly) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000550867]|Cardiovascular phenotype [RCV000620857]|not provided [RCV000521086] Chr10:51153247 [GRCh38]
Chr10:52913007 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.-30A>G single nucleotide variant not specified [RCV000601068] Chr10:51074561 [GRCh38]
Chr10:52834321 [GRCh37]
Chr10:10q11.23
likely benign
NC_000010.11:g.(?_52054474)_(52054571_?)del deletion Aortic aneurysm, familial thoracic 8 [RCV000815922] Chr10:52054474..52054571 [GRCh38]
Chr10:53814234..53814331 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1845A>G (p.Ser615=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000536878] Chr10:52288943 [GRCh38]
Chr10:54048703 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn) single nucleotide variant not provided [RCV000757686] Chr10:51074849 [GRCh38]
Chr10:52834609 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) single nucleotide variant not provided [RCV000757687] Chr10:52280913 [GRCh38]
Chr10:54040673 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001410758]|not provided [RCV000757688] Chr10:52282281 [GRCh38]
Chr10:54042041 [GRCh37]
Chr10:10q21.1
likely benign
GRCh37/hg19 10q11.23-21.1(chr10:52752503-57406199)x3 copy number gain See cases [RCV000449275] Chr10:52752503..57406199 [GRCh37]
Chr10:10q11.23-21.1
uncertain significance
NM_006258.4(PRKG1):c.893C>T (p.Thr298Ile) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000553604]|Cardiovascular phenotype [RCV000619600] Chr10:52062589 [GRCh38]
Chr10:53822349 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
GRCh37/hg19 10q21.1(chr10:53321554-53420982)x1 copy number loss See cases [RCV000449325] Chr10:53321554..53420982 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.479-9C>T single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000474076]|not specified [RCV000419010] Chr10:51467714 [GRCh38]
Chr10:53227474 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000860867]|not specified [RCV000420291] Chr10:52161913 [GRCh38]
Chr10:53921673 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001000887]|Cardiovascular phenotype [RCV000617590]|not specified [RCV000424838] Chr10:52062602 [GRCh38]
Chr10:53822362 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000473146]|Cardiovascular phenotype [RCV000619922]|not specified [RCV000426670] Chr10:52062541 [GRCh38]
Chr10:53822301 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1936A>G (p.Thr646Ala) single nucleotide variant not provided [RCV000431214] Chr10:52290264 [GRCh38]
Chr10:54050024 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1001+12G>A single nucleotide variant not specified [RCV000433771] Chr10:52133917 [GRCh38]
Chr10:53893677 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.763-15G>T single nucleotide variant not specified [RCV000443117] Chr10:52054469 [GRCh38]
Chr10:53814229 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.-31C>T single nucleotide variant not specified [RCV000422806] Chr10:51074560 [GRCh38]
Chr10:52834320 [GRCh37]
Chr10:10q11.23
benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_006258.4(PRKG1):c.585C>T (p.Thr195=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000463476] Chr10:51467829 [GRCh38]
Chr10:53227589 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1002-9G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000456162]|not specified [RCV000604336] Chr10:52161880 [GRCh38]
Chr10:53921640 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.1598T>C (p.Phe533Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000464521] Chr10:52282205 [GRCh38]
Chr10:54041965 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.30G>A (p.Ala10=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000461485]|Cardiovascular phenotype [RCV000619389]|Connective tissue disease [RCV000660229]|not specified [RCV000606437] Chr10:51074620 [GRCh38]
Chr10:52834380 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1228C>T (p.Arg410Cys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000472610] Chr10:52271404 [GRCh38]
Chr10:54031164 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.840+5G>T single nucleotide variant not provided [RCV000486551] Chr10:52054566 [GRCh38]
Chr10:53814326 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000457976]|Cardiovascular phenotype [RCV000619803] Chr10:52161904 [GRCh38]
Chr10:53921664 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.1466A>G (p.Tyr489Cys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000473353] Chr10:52280851 [GRCh38]
Chr10:54040611 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000999859]|Cardiovascular phenotype [RCV000619026]|not specified [RCV000612821] Chr10:52280910 [GRCh38]
Chr10:54040670 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.473T>C (p.Met158Thr) single nucleotide variant not provided [RCV000478849] Chr10:51153325 [GRCh38]
Chr10:52913085 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.553G>A (p.Ala185Thr) single nucleotide variant not provided [RCV000497851] Chr10:51467797 [GRCh38]
Chr10:53227557 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1963-16T>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001282291]|Connective tissue disease [RCV000680606]|not specified [RCV000508476] Chr10:52293786 [GRCh38]
Chr10:54053546 [GRCh37]
Chr10:10q21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000863803]|Connective tissue disease [RCV000680607]|not specified [RCV000506865] Chr10:52293888 [GRCh38]
Chr10:54053648 [GRCh37]
Chr10:10q21.1
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3 copy number gain See cases [RCV000510878] Chr10:52085343..53314592 [GRCh37]
Chr10:10q11.23-21.1
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_006258.4(PRKG1):c.1661C>T (p.Ala554Val) single nucleotide variant Cardiovascular phenotype [RCV000617297] Chr10:52282268 [GRCh38]
Chr10:54042028 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.882C>A (p.Val294=) single nucleotide variant Cardiovascular phenotype [RCV000617393] Chr10:52062578 [GRCh38]
Chr10:53822338 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.980C>A (p.Thr327Asn) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001303878]|Cardiovascular phenotype [RCV000618638] Chr10:52133884 [GRCh38]
Chr10:53893644 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1229G>A (p.Arg410His) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000823217]|Cardiovascular phenotype [RCV000619909] Chr10:52271405 [GRCh38]
Chr10:54031165 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1315C>T (p.Leu439=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000862663]|Cardiovascular phenotype [RCV000622098] Chr10:52272393 [GRCh38]
Chr10:54032153 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1988A>G (p.Asn663Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001339090]|not provided [RCV000519832] Chr10:52293827 [GRCh38]
Chr10:54053587 [GRCh37]
Chr10:10q21.1
uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_006258.4(PRKG1):c.421A>C (p.Lys141Gln) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000524770]|Cardiovascular phenotype [RCV000620356] Chr10:51153273 [GRCh38]
Chr10:52913033 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
NM_006258.4(PRKG1):c.1002-10C>T single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001517446]|not specified [RCV000606804] Chr10:52161879 [GRCh38]
Chr10:53921639 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.337A>G (p.Ile113Val) single nucleotide variant Cardiovascular phenotype [RCV000617255] Chr10:51153189 [GRCh38]
Chr10:52912949 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.321T>C (p.Asp107=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000866892]|Cardiovascular phenotype [RCV000621961] Chr10:51153173 [GRCh38]
Chr10:52912933 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.63G>A (p.Arg21=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655079]|Cardiovascular phenotype [RCV000617559] Chr10:51074653 [GRCh38]
Chr10:52834413 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.958G>A (p.Val320Ile) single nucleotide variant Cardiovascular phenotype [RCV000618111] Chr10:52133862 [GRCh38]
Chr10:53893622 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655074]|Cardiovascular phenotype [RCV000619556] Chr10:52290256 [GRCh38]
Chr10:54050016 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1891C>T (p.His631Tyr) single nucleotide variant Cardiovascular phenotype [RCV000620816] Chr10:52288989 [GRCh38]
Chr10:54048749 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1518C>A (p.Ile506=) single nucleotide variant Cardiovascular phenotype [RCV000621072] Chr10:52280903 [GRCh38]
Chr10:54040663 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1710-20C>T single nucleotide variant not specified [RCV000600500] Chr10:52288706 [GRCh38]
Chr10:54048466 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.693A>G (p.Leu231=) single nucleotide variant Cardiovascular phenotype [RCV000621206] Chr10:51804685 [GRCh38]
Chr10:53564445 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.2016T>C (p.Asp672=) single nucleotide variant Cardiovascular phenotype [RCV000621585] Chr10:52293855 [GRCh38]
Chr10:54053615 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1491C>T (p.Tyr497=) single nucleotide variant Cardiovascular phenotype [RCV000622228] Chr10:52280876 [GRCh38]
Chr10:54040636 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.866C>T (p.Pro289Leu) single nucleotide variant Cardiovascular phenotype [RCV000618282] Chr10:52062562 [GRCh38]
Chr10:53822322 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1428C>T (p.Thr476=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001501401]|Cardiovascular phenotype [RCV000618831]|not provided [RCV000925380] Chr10:52280813 [GRCh38]
Chr10:54040573 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1726C>T (p.Pro576Ser) single nucleotide variant Cardiovascular phenotype [RCV000619723] Chr10:52288742 [GRCh38]
Chr10:54048502 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.2013C>T (p.Asn671=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001467952]|not specified [RCV000606155] Chr10:52293852 [GRCh38]
Chr10:54053612 [GRCh37]
Chr10:10q21.1
likely benign
NC_000010.11:g.(?_52161869)_(52161983_?)del deletion Aortic aneurysm, familial thoracic 8 [RCV000537779] Chr10:52161869..52161983 [GRCh38]
Chr10:53921629..53921743 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.27C>T (p.Tyr9=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000868895]|not specified [RCV000616233] Chr10:51074617 [GRCh38]
Chr10:52834377 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.312-12C>G single nucleotide variant not specified [RCV000610393] Chr10:51153152 [GRCh38]
Chr10:52912912 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1174-15C>T single nucleotide variant Connective tissue disease [RCV000680604]|not specified [RCV000616573] Chr10:52271335 [GRCh38]
Chr10:54031095 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.820T>C (p.Phe274Leu) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000538667] Chr10:52054541 [GRCh38]
Chr10:53814301 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.591G>A (p.Lys197=) single nucleotide variant not specified [RCV000608087] Chr10:51467835 [GRCh38]
Chr10:53227595 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1963-19del deletion not specified [RCV000610733] Chr10:52293776 [GRCh38]
Chr10:54053536 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.840+14G>T single nucleotide variant not specified [RCV000613945] Chr10:52054575 [GRCh38]
Chr10:53814335 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.478+10G>T single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000539607]|not provided [RCV000842511] Chr10:51153340 [GRCh38]
Chr10:52913100 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655071] Chr10:52161903 [GRCh38]
Chr10:53921663 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.630A>G (p.Gln210=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655072] Chr10:51804622 [GRCh38]
Chr10:53564382 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.449A>C (p.Asp150Ala) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655073] Chr10:51153301 [GRCh38]
Chr10:52913061 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1937C>T (p.Thr646Ile) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655075] Chr10:52290265 [GRCh38]
Chr10:54050025 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1963-19dup duplication not specified [RCV000611624] Chr10:52293775..52293776 [GRCh38]
Chr10:54053535..54053536 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1576T>C (p.Phe526Leu) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000558406] Chr10:52282183 [GRCh38]
Chr10:54041943 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.319G>C (p.Asp107His) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000535981] Chr10:51153171 [GRCh38]
Chr10:52912931 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.195G>A (p.Ala65=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655076] Chr10:51074785 [GRCh38]
Chr10:52834545 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1173+8A>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001412993]|not provided [RCV000655077] Chr10:52251674 [GRCh38]
Chr10:54011434 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.15G>T (p.Arg5=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655080] Chr10:51074605 [GRCh38]
Chr10:52834365 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.375G>A (p.Ser125=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001489176]|not provided [RCV000655081] Chr10:51153227 [GRCh38]
Chr10:52912987 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1546-7T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655082] Chr10:52282146 [GRCh38]
Chr10:54041906 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1174-7_1174-4del microsatellite Aortic aneurysm, familial thoracic 8 [RCV000655083]|Connective tissue disease [RCV000680605] Chr10:52271338..52271341 [GRCh38]
Chr10:54031098..54031101 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
NM_006258.4(PRKG1):c.1056A>G (p.Glu352=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000655084] Chr10:52161943 [GRCh38]
Chr10:53921703 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1962T>C (p.Ser654=) single nucleotide variant not specified [RCV000603445] Chr10:52290290 [GRCh38]
Chr10:54050050 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.777T>C (p.Asn259=) single nucleotide variant not provided [RCV000761718]|not specified [RCV000609369] Chr10:52054498 [GRCh38]
Chr10:53814258 [GRCh37]
Chr10:10q21.1
likely benign|uncertain significance
NM_006258.4(PRKG1):c.1896-11del deletion not specified [RCV000609373] Chr10:52290208 [GRCh38]
Chr10:54049968 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1968A>G (p.Ala656=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001479930]|not provided [RCV000868907]|not specified [RCV000605016] Chr10:52293807 [GRCh38]
Chr10:54053567 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1867A>T (p.Asn623Tyr) single nucleotide variant Cardiovascular phenotype [RCV000618234] Chr10:52288965 [GRCh38]
Chr10:54048725 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000869645]|Cardiovascular phenotype [RCV000620692] Chr10:51467790 [GRCh38]
Chr10:53227550 [GRCh37]
Chr10:10q21.1
benign|likely benign
NM_006258.4(PRKG1):c.1710C>T (p.Ser570=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001486616]|not specified [RCV000604839] Chr10:52288726 [GRCh38]
Chr10:54048486 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1963-5dup duplication not specified [RCV000604948] Chr10:52293791..52293792 [GRCh38]
Chr10:54053551..54053552 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.389T>C (p.Ile130Thr) single nucleotide variant Connective tissue disease [RCV000660231]|not provided [RCV000512679] Chr10:51153241 [GRCh38]
Chr10:52913001 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1264C>T (p.Arg422Cys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001069423]|not provided [RCV000512987] Chr10:52271440 [GRCh38]
Chr10:54031200 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.3(PRKG1):c.246G>C (p.Arg82=) single nucleotide variant not provided [RCV000513286] Chr10:50991624 [GRCh38]
Chr10:52751384 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.114G>C (p.Leu38=) single nucleotide variant not specified [RCV000606331] Chr10:51074704 [GRCh38]
Chr10:52834464 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.123G>A (p.Lys41=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001400505]|Cardiovascular phenotype [RCV000620276]|not provided [RCV000861121]|not specified [RCV000601005] Chr10:51074713 [GRCh38]
Chr10:52834473 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.930G>T (p.Leu310Phe) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000698927] Chr10:52062626 [GRCh38]
Chr10:53822386 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.314C>T (p.Ser105Phe) single nucleotide variant Connective tissue disease [RCV000680602] Chr10:51153166 [GRCh38]
Chr10:52912926 [GRCh37]
Chr10:10q21.1
uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52085343-53314592)x3 copy number gain not provided [RCV000683257] Chr10:52085343..53314592 [GRCh37]
Chr10:10q11.23-21.1
uncertain significance
NM_006258.4(PRKG1):c.951A>T (p.Thr317=) single nucleotide variant Connective tissue disease [RCV000680603]|not provided [RCV000865264] Chr10:52133855 [GRCh38]
Chr10:53893615 [GRCh37]
Chr10:10q21.1
likely benign
NC_000010.10:g.(?_53893580)_(53921743_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV000708424] Chr10:52133820..52161983 [GRCh38]
Chr10:53893580..53921743 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.470T>C (p.Val157Ala) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000704264] Chr10:51153322 [GRCh38]
Chr10:52913082 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.407C>T (p.Pro136Leu) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000699362] Chr10:51153259 [GRCh38]
Chr10:52913019 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1065A>C (p.Glu355Asp) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000693123] Chr10:52161952 [GRCh38]
Chr10:53921712 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1832+5G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000703081] Chr10:52288853 [GRCh38]
Chr10:54048613 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.2048A>T (p.Asp683Val) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000692162] Chr10:52293887 [GRCh38]
Chr10:54053647 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.586G>A (p.Val196Ile) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000689410] Chr10:51467830 [GRCh38]
Chr10:53227590 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.10:g.(?_53893590)_(53921733_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV000820585] Chr10:52133830..52161973 [GRCh38]
Chr10:53893590..53921733 [GRCh37]
Chr10:10q21.1
uncertain significance
GRCh37/hg19 10q21.1(chr10:53204509-53211991)x1 copy number loss not provided [RCV000737119] Chr10:53204509..53211991 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q21.1(chr10:53269467-53318238)x1 copy number loss not provided [RCV000749603] Chr10:53269467..53318238 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:53699753-53701052)x1 copy number loss not provided [RCV000749604] Chr10:53699753..53701052 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:53825576-53983258)x3 copy number gain not provided [RCV000749605] Chr10:53825576..53983258 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:54012974-54017651)x1 copy number loss not provided [RCV000749606] Chr10:54012974..54017651 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:54016062-54019620)x0 copy number loss not provided [RCV000749607] Chr10:54016062..54019620 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:54016062-54024195)x3 copy number gain not provided [RCV000749608] Chr10:54016062..54024195 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:54016062-54028464)x1 copy number loss not provided [RCV000749609] Chr10:54016062..54028464 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:54016099-54019620)x1 copy number loss not provided [RCV000749610] Chr10:54016099..54019620 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1
likely pathogenic
NM_006258.4(PRKG1):c.1189G>A (p.Glu397Lys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001045006] Chr10:52271365 [GRCh38]
Chr10:54031125 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.582G>A (p.Ala194=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001489565]|not provided [RCV000866636] Chr10:51467826 [GRCh38]
Chr10:53227586 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.735C>G (p.Leu245=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001434543]|not provided [RCV000921906] Chr10:51907543 [GRCh38]
Chr10:53667303 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1173+10T>C single nucleotide variant not provided [RCV000863300] Chr10:52251676 [GRCh38]
Chr10:54011436 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1233C>T (p.His411=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000866816] Chr10:52271409 [GRCh38]
Chr10:54031169 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.94T>C (p.Leu32=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001485095]|not provided [RCV000875986] Chr10:51074684 [GRCh38]
Chr10:52834444 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.171C>G (p.Thr57=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001458624]|not provided [RCV000875987] Chr10:51074761 [GRCh38]
Chr10:52834521 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1001+7A>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001491313]|not provided [RCV000863762] Chr10:52133912 [GRCh38]
Chr10:53893672 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1173+9T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001487910]|not provided [RCV000867067] Chr10:52251675 [GRCh38]
Chr10:54011435 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1102G>A (p.Ala368Thr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001059083] Chr10:52251595 [GRCh38]
Chr10:54011355 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.461T>C (p.Leu154Pro) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001042632] Chr10:51153313 [GRCh38]
Chr10:52913073 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.841-9T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000876324] Chr10:52062528 [GRCh38]
Chr10:53822288 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1896-9del deletion Aortic aneurysm, familial thoracic 8 [RCV001485280]|not provided [RCV000978764] Chr10:52290214 [GRCh38]
Chr10:54049974 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.486G>A (p.Lys162=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000866068] Chr10:51467730 [GRCh38]
Chr10:53227490 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1290G>A (p.Gly430=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000871657] Chr10:52271466 [GRCh38]
Chr10:54031226 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1314-9A>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001450710]|not provided [RCV000920570] Chr10:52272383 [GRCh38]
Chr10:54032143 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.72C>G (p.Leu24=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001498011]|not provided [RCV000918904] Chr10:51074662 [GRCh38]
Chr10:52834422 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.69T>G (p.Ala23=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001397064]|not provided [RCV000878746] Chr10:51074659 [GRCh38]
Chr10:52834419 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.36G>A (p.Gln12=) single nucleotide variant not provided [RCV000871963] Chr10:51074626 [GRCh38]
Chr10:52834386 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.593-216C>T single nucleotide variant not provided [RCV000839167] Chr10:51804369 [GRCh38]
Chr10:53564129 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.762+146G>A single nucleotide variant not provided [RCV000834036] Chr10:51907716 [GRCh38]
Chr10:53667476 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1076+31C>A single nucleotide variant not provided [RCV000834037] Chr10:52161994 [GRCh38]
Chr10:53921754 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.592+37G>A single nucleotide variant not provided [RCV000839518] Chr10:51467873 [GRCh38]
Chr10:53227633 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1962+29G>A single nucleotide variant not provided [RCV000834054] Chr10:52290319 [GRCh38]
Chr10:54050079 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1709+178G>A single nucleotide variant not provided [RCV000835776] Chr10:52282494 [GRCh38]
Chr10:54042254 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1895+170A>G single nucleotide variant not provided [RCV000835793] Chr10:52289163 [GRCh38]
Chr10:54048923 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.479-188T>C single nucleotide variant not provided [RCV000839570] Chr10:51467535 [GRCh38]
Chr10:53227295 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1173+214C>A single nucleotide variant not provided [RCV000834233] Chr10:52251880 [GRCh38]
Chr10:54011640 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1173+215T>A single nucleotide variant not provided [RCV000834234] Chr10:52251881 [GRCh38]
Chr10:54011641 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1174-146G>C single nucleotide variant not provided [RCV000834235] Chr10:52271204 [GRCh38]
Chr10:54030964 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1391T>C (p.Ile464Thr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000801240] Chr10:52272469 [GRCh38]
Chr10:54032229 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.839C>T (p.Thr280Met) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000803107] Chr10:52054560 [GRCh38]
Chr10:53814320 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT insertion not provided [RCV000839848] Chr10:52161978..52161979 [GRCh38]
Chr10:53921738..53921739 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1546-284G>C single nucleotide variant not provided [RCV000828730] Chr10:52281869 [GRCh38]
Chr10:54041629 [GRCh37]
Chr10:10q21.1
likely benign
NC_000010.11:g.51153340G>T single nucleotide variant not provided [RCV000842511] Chr10:52913100 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.957C>T (p.Asn319=) single nucleotide variant not provided [RCV000869667] Chr10:52133861 [GRCh38]
Chr10:53893621 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.165A>T (p.Pro55=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001465260]|not provided [RCV000840236] Chr10:51074755 [GRCh38]
Chr10:52834515 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1174-290C>T single nucleotide variant not provided [RCV000829105] Chr10:52271060 [GRCh38]
Chr10:54030820 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1403+285_1403+286insACAG insertion not provided [RCV000829111] Chr10:52272764..52272765 [GRCh38]
Chr10:54032524..54032525 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1714C>A (p.Pro572Thr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000801552] Chr10:52288730 [GRCh38]
Chr10:54048490 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.3(PRKG1):c.-474C>T single nucleotide variant not provided [RCV000843893] Chr10:50990905 [GRCh38]
Chr10:52750665 [GRCh37]
Chr10:10q11.23
benign
NM_006258.4(PRKG1):c.762+256C>A single nucleotide variant not provided [RCV000843894] Chr10:51907826 [GRCh38]
Chr10:53667586 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1710-252G>A single nucleotide variant not provided [RCV000843903] Chr10:52288474 [GRCh38]
Chr10:54048234 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1896-263G>A single nucleotide variant not provided [RCV000843905] Chr10:52289961 [GRCh38]
Chr10:54049721 [GRCh37]
Chr10:10q21.1
benign
NM_001098512.3(PRKG1):c.267-79022C>T single nucleotide variant not provided [RCV000843918] Chr10:51074142 [GRCh38]
Chr10:52833902 [GRCh37]
Chr10:10q11.23
benign
NM_006258.4(PRKG1):c.936-295C>A single nucleotide variant not provided [RCV000843921] Chr10:52133545 [GRCh38]
Chr10:53893305 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1404-308C>T single nucleotide variant not provided [RCV000843922] Chr10:52280481 [GRCh38]
Chr10:54040241 [GRCh37]
Chr10:10q21.1
likely benign
NM_001098512.3(PRKG1):c.-345A>G single nucleotide variant not provided [RCV000833363] Chr10:50991034 [GRCh38]
Chr10:52750794 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.478+304C>T single nucleotide variant not provided [RCV000833367] Chr10:51153634 [GRCh38]
Chr10:52913394 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1076+114G>C single nucleotide variant not provided [RCV000838709] Chr10:52162077 [GRCh38]
Chr10:53921837 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1076+125A>C single nucleotide variant not provided [RCV000838710] Chr10:52162088 [GRCh38]
Chr10:53921848 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000870003] Chr10:52282269 [GRCh38]
Chr10:54042029 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.444_449dup (p.Glu148_Gly149dup) duplication Aortic aneurysm, familial thoracic 8 [RCV000798978] Chr10:51153292..51153293 [GRCh38]
Chr10:52913052..52913053 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.3(PRKG1):c.-144C>A single nucleotide variant not provided [RCV000834062] Chr10:50991235 [GRCh38]
Chr10:52750995 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.840+62C>T single nucleotide variant not provided [RCV000834064] Chr10:52054623 [GRCh38]
Chr10:53814383 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.936-216C>T single nucleotide variant not provided [RCV000834065] Chr10:52133624 [GRCh38]
Chr10:53893384 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.936-61A>T single nucleotide variant not provided [RCV000834066] Chr10:52133779 [GRCh38]
Chr10:53893539 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1313+114C>A single nucleotide variant not provided [RCV000834236] Chr10:52271603 [GRCh38]
Chr10:54031363 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1403+28A>G single nucleotide variant not provided [RCV000834237] Chr10:52272509 [GRCh38]
Chr10:54032269 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1403+101A>C single nucleotide variant not provided [RCV000834238] Chr10:52272582 [GRCh38]
Chr10:54032342 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1404-113G>C single nucleotide variant not provided [RCV000834239] Chr10:52280676 [GRCh38]
Chr10:54040436 [GRCh37]
Chr10:10q21.1
likely benign
NM_001098512.3(PRKG1):c.-152A>G single nucleotide variant not provided [RCV000835794] Chr10:50991227 [GRCh38]
Chr10:52750987 [GRCh37]
Chr10:10q11.23
likely benign
GRCh37/hg19 10q11.23-21.1(chr10:52082714-53320354)x3 copy number gain not provided [RCV000848525] Chr10:52082714..53320354 [GRCh37]
Chr10:10q11.23-21.1
uncertain significance
NM_006258.4(PRKG1):c.1001+223G>A single nucleotide variant not provided [RCV000837661] Chr10:52134128 [GRCh38]
Chr10:53893888 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.935+262C>T single nucleotide variant not provided [RCV000830555] Chr10:52062893 [GRCh38]
Chr10:53822653 [GRCh37]
Chr10:10q21.1
benign
GRCh37/hg19 10q21.1(chr10:53815624-54483403)x3 copy number gain not provided [RCV000847340] Chr10:53815624..54483403 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.810G>C (p.Gly270=) single nucleotide variant not provided [RCV000828351] Chr10:52054531 [GRCh38]
Chr10:53814291 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.197G>T (p.Ser66Ile) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001410286]|not provided [RCV000864473] Chr10:51074787 [GRCh38]
Chr10:52834547 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1962+255A>T single nucleotide variant not provided [RCV000828771] Chr10:52290545 [GRCh38]
Chr10:54050305 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.762+113C>T single nucleotide variant not provided [RCV000834035] Chr10:51907683 [GRCh38]
Chr10:53667443 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1313+194T>C single nucleotide variant not provided [RCV000834039] Chr10:52271683 [GRCh38]
Chr10:54031443 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.226C>A (p.Arg76=) single nucleotide variant not provided [RCV000840871] Chr10:51074816 [GRCh38]
Chr10:52834576 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.762+274G>T single nucleotide variant not provided [RCV000843895] Chr10:51907844 [GRCh38]
Chr10:53667604 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.763-296A>G single nucleotide variant not provided [RCV000843896] Chr10:52054188 [GRCh38]
Chr10:53813948 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.763-291A>C single nucleotide variant not provided [RCV000843900] Chr10:52054193 [GRCh38]
Chr10:53813953 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1173+239A>G single nucleotide variant not provided [RCV000837560] Chr10:52251905 [GRCh38]
Chr10:54011665 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1002-190C>T single nucleotide variant not provided [RCV000838201] Chr10:52161699 [GRCh38]
Chr10:53921459 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.592+174A>C single nucleotide variant not provided [RCV000838232] Chr10:51468010 [GRCh38]
Chr10:53227770 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.936-70T>C single nucleotide variant not provided [RCV000838233] Chr10:52133770 [GRCh38]
Chr10:53893530 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.1963-92A>C single nucleotide variant not provided [RCV000838234] Chr10:52293710 [GRCh38]
Chr10:54053470 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.570T>C (p.Cys190=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001408120]|not provided [RCV000863807] Chr10:51467814 [GRCh38]
Chr10:53227574 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1174-217T>C single nucleotide variant not provided [RCV000839115] Chr10:52271133 [GRCh38]
Chr10:54030893 [GRCh37]
Chr10:10q21.1
benign
NM_006258.4(PRKG1):c.763-283A>G single nucleotide variant not provided [RCV000832578] Chr10:52054201 [GRCh38]
Chr10:53813961 [GRCh37]
Chr10:10q21.1
likely benign
GRCh37/hg19 10q21.1(chr10:53802602-55217542)x3 copy number gain not provided [RCV001006323] Chr10:53802602..55217542 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.11:g.(?_51074581)_(51074911_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV001032746] Chr10:52834341..52834671 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_001098512.3(PRKG1):c.141C>G (p.Leu47=) single nucleotide variant not provided [RCV000994395] Chr10:50991519 [GRCh38]
Chr10:52751279 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.935+5G>A single nucleotide variant not provided [RCV000994397] Chr10:52062636 [GRCh38]
Chr10:53822396 [GRCh37]
Chr10:10q21.1
uncertain significance
GRCh37/hg19 10q21.1(chr10:53144955-53811118)x3 copy number gain not provided [RCV001006322] Chr10:53144955..53811118 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_001098512.3(PRKG1):c.168C>A (p.Pro56=) single nucleotide variant not provided [RCV000994396] Chr10:50991546 [GRCh38]
Chr10:52751306 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.431G>A (p.Cys144Tyr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001219920] Chr10:51153283 [GRCh38]
Chr10:52913043 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1864A>C (p.Lys622Gln) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001224057] Chr10:52288962 [GRCh38]
Chr10:54048722 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.619A>G (p.Ile207Val) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001223033] Chr10:51804611 [GRCh38]
Chr10:53564371 [GRCh37]
Chr10:10q21.1
uncertain significance
GRCh37/hg19 10q11.23-21.1(chr10:52833082-52913349)x3 copy number gain Familial thoracic aortic aneurysm and aortic dissection [RCV001249295] Chr10:52833082..52913349 [GRCh37]
Chr10:10q11.23-21.1
not provided
NM_006258.4(PRKG1):c.319G>A (p.Asp107Asn) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001225941] Chr10:51153171 [GRCh38]
Chr10:52912931 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.791T>A (p.Ile264Asn) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001218993] Chr10:52054512 [GRCh38]
Chr10:53814272 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.450C>T (p.Asp150=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001439394]|not provided [RCV000869961] Chr10:51153302 [GRCh38]
Chr10:52913062 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.99T>C (p.Asp33=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001401077]|not provided [RCV000918905] Chr10:51074689 [GRCh38]
Chr10:52834449 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.642A>G (p.Thr214=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001494203]|not provided [RCV000862115] Chr10:51804634 [GRCh38]
Chr10:53564394 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1719C>T (p.Phe573=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000923231] Chr10:52288735 [GRCh38]
Chr10:54048495 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1779A>G (p.Glu593=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001433285]|not provided [RCV000979049] Chr10:52288795 [GRCh38]
Chr10:54048555 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.252C>T (p.Thr84=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000983286] Chr10:51074842 [GRCh38]
Chr10:52834602 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.478+4C>T single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001243919] Chr10:51153334 [GRCh38]
Chr10:52913094 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.11:g.(?_51907497)_(51907580_?)del deletion Aortic aneurysm, familial thoracic 8 [RCV001031582] Chr10:53667257..53667340 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1613A>G (p.Glu538Gly) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001241861] Chr10:52282220 [GRCh38]
Chr10:54041980 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.762+8T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001447500]|not provided [RCV000935666] Chr10:51907578 [GRCh38]
Chr10:53667338 [GRCh37]
Chr10:10q21.1
likely benign
NM_015235.3(CSTF2T):c.720_722del (p.Gln240del) deletion not provided [RCV000956824] Chr10:51698828..51698830 [GRCh38]
Chr10:53458588..53458590 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.867G>A (p.Pro289=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV000936019] Chr10:52062563 [GRCh38]
Chr10:53822323 [GRCh37]
Chr10:10q21.1
likely benign
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3
pathogenic
NM_006258.4(PRKG1):c.799G>A (p.Gly267Ser) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001071499] Chr10:52054520 [GRCh38]
Chr10:53814280 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.712C>A (p.Gln238Lys) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001069895] Chr10:51907520 [GRCh38]
Chr10:53667280 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.683T>C (p.Met228Thr) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001054043] Chr10:51804675 [GRCh38]
Chr10:53564435 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1023A>G (p.Gly341=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001397175] Chr10:52161910 [GRCh38]
Chr10:53921670 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.478+7T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001415470] Chr10:51153337 [GRCh38]
Chr10:52913097 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.2052A>G (p.Ile684Met) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001348907] Chr10:52293891 [GRCh38]
Chr10:54053651 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1377A>G (p.Gly459=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001392272] Chr10:52272455 [GRCh38]
Chr10:54032215 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.711C>A (p.Phe237Leu) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001371549] Chr10:51907519 [GRCh38]
Chr10:53667279 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.789T>C (p.Ile263=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001397608] Chr10:52054510 [GRCh38]
Chr10:53814270 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.2043A>T (p.Gly681=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001369035] Chr10:52293882 [GRCh38]
Chr10:54053642 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.478+5G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001345818] Chr10:51153335 [GRCh38]
Chr10:52913095 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.698+4G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001300502] Chr10:51804694 [GRCh38]
Chr10:53564454 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.10:g.(?_53564335)_(53564460_?)del deletion Aortic aneurysm, familial thoracic 8 [RCV001323421] Chr10:53564335..53564460 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.10:g.(?_54011320)_(54530789_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV001323422] Chr10:54011320..54530789 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.805A>G (p.Arg269Gly) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001323531] Chr10:52054526 [GRCh38]
Chr10:53814286 [GRCh37]
Chr10:10q21.1
uncertain significance
NC_000010.10:g.(?_52834341)_(52834671_?)dup duplication Aortic aneurysm, familial thoracic 8 [RCV001309081] Chr10:52834341..52834671 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.2054_*2dup (p.Asp685_Ter687=) duplication Aortic aneurysm, familial thoracic 8 [RCV001368079] Chr10:52293891..52293892 [GRCh38]
Chr10:54053651..54053652 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.79G>C (p.Glu27Gln) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001295179] Chr10:51074669 [GRCh38]
Chr10:52834429 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.1824A>G (p.Lys608=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001341711] Chr10:52288840 [GRCh38]
Chr10:54048600 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.165A>C (p.Pro55=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001421540] Chr10:51074755 [GRCh38]
Chr10:52834515 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.160C>G (p.Arg54Gly) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001359456] Chr10:51074750 [GRCh38]
Chr10:52834510 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_006258.4(PRKG1):c.881T>A (p.Val294Asp) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001366785] Chr10:52062577 [GRCh38]
Chr10:53822337 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.815C>A (p.Thr272Asn) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001354796] Chr10:52054536 [GRCh38]
Chr10:53814296 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1031A>G (p.Asp344Gly) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001368978] Chr10:52161918 [GRCh38]
Chr10:53921678 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.546G>T (p.Gly182=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001349377] Chr10:51467790 [GRCh38]
Chr10:53227550 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1166T>C (p.Val389Ala) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001337498] Chr10:52251659 [GRCh38]
Chr10:54011419 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.1173+3A>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001365896] Chr10:52251669 [GRCh38]
Chr10:54011429 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.162A>G (p.Arg54=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001395299] Chr10:51074752 [GRCh38]
Chr10:52834512 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.147C>T (p.Tyr49=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001483949] Chr10:51074737 [GRCh38]
Chr10:52834497 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.652A>C (p.Arg218=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001496070] Chr10:51804644 [GRCh38]
Chr10:53564404 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1519C>T (p.Leu507=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001497743] Chr10:52280904 [GRCh38]
Chr10:54040664 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1710-4G>A single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001440345] Chr10:52288722 [GRCh38]
Chr10:54048482 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.132C>T (p.Asn44=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001468927] Chr10:51074722 [GRCh38]
Chr10:52834482 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1114C>T (p.Leu372=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001393688] Chr10:52251607 [GRCh38]
Chr10:54011367 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.841-5T>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001401633] Chr10:52062532 [GRCh38]
Chr10:53822292 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.261C>T (p.Asp87=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001393719] Chr10:51074851 [GRCh38]
Chr10:52834611 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.564C>T (p.Tyr188=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001401235] Chr10:51467808 [GRCh38]
Chr10:53227568 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1002-7C>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001425369] Chr10:52161882 [GRCh38]
Chr10:53921642 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.471C>G (p.Val157=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001404295] Chr10:51153323 [GRCh38]
Chr10:52913083 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1232A>G (p.His411Arg) single nucleotide variant not provided [RCV001508659] Chr10:52271408 [GRCh38]
Chr10:54031168 [GRCh37]
Chr10:10q21.1
uncertain significance
NM_006258.4(PRKG1):c.711C>T (p.Phe237=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001495475] Chr10:51907519 [GRCh38]
Chr10:53667279 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1963-10T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001464702] Chr10:52293792 [GRCh38]
Chr10:54053552 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.13C>A (p.Arg5=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001499446] Chr10:51074603 [GRCh38]
Chr10:52834363 [GRCh37]
Chr10:10q11.23
likely benign
NM_006258.4(PRKG1):c.1128C>T (p.Asn376=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001491219] Chr10:52251621 [GRCh38]
Chr10:54011381 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.432C>T (p.Cys144=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001459327] Chr10:51153284 [GRCh38]
Chr10:52913044 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.633T>C (p.Cys211=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001487836] Chr10:51804625 [GRCh38]
Chr10:53564385 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1041T>C (p.Ser347=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001464288] Chr10:52161928 [GRCh38]
Chr10:53921688 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1317G>A (p.Leu439=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001504457] Chr10:52272395 [GRCh38]
Chr10:54032155 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1963-9T>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001450928] Chr10:52293793 [GRCh38]
Chr10:54053553 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1161A>T (p.Gly387=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001496447] Chr10:52251654 [GRCh38]
Chr10:54011414 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.375G>T (p.Ser125=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001419805] Chr10:51153227 [GRCh38]
Chr10:52912987 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1001+9A>G single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001419854] Chr10:52133914 [GRCh38]
Chr10:53893674 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1419T>C (p.Asp473=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001452024] Chr10:52280804 [GRCh38]
Chr10:54040564 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1617T>C (p.Tyr539=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001456074] Chr10:52282224 [GRCh38]
Chr10:54041984 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.675C>G (p.Thr225=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001400302] Chr10:51804667 [GRCh38]
Chr10:53564427 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.1635C>T (p.Ile545=) single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001401995] Chr10:52282242 [GRCh38]
Chr10:54042002 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.699-7T>C single nucleotide variant Aortic aneurysm, familial thoracic 8 [RCV001400385] Chr10:51907500 [GRCh38]
Chr10:53667260 [GRCh37]
Chr10:10q21.1
likely benign
NM_006258.4(PRKG1):c.2011_2013del (p.Asn671del) deletion not provided [RCV001508660] Chr10:52293848..52293850 [GRCh38]
Chr10:54053608..54053610 [GRCh37]
Chr10:10q21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9414 AgrOrtholog
COSMIC PRKG1 COSMIC
Ensembl Genes ENSG00000185532 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363087 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000363092 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384200 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000494124 UniProtKB/TrEMBL
  ENSP00000495279 UniProtKB/TrEMBL
  ENSP00000496551 UniProtKB/TrEMBL
  ENSP00000499822 UniProtKB/TrEMBL
Ensembl Transcript ENST00000373976 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000373980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000401604 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643582 UniProtKB/TrEMBL
  ENST00000643704 UniProtKB/TrEMBL
  ENST00000645324 UniProtKB/TrEMBL
  ENST00000672084 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185532 GTEx
HGNC ID HGNC:9414 ENTREZGENE
Human Proteome Map PRKG1 Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cGMP_dep_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKcGMP_CC UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STKc_cGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5592 UniProtKB/Swiss-Prot
NCBI Gene 5592 ENTREZGENE
OMIM 176894 OMIM
  615436 OMIM
Pfam cNMP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKcGMP_CC UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33777 PharmGKB
PIRSF cGMP-dep_kinase UniProtKB/Swiss-Prot
PRINTS CGMPKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y507_HUMAN UniProtKB/TrEMBL
  A0A2R8YE50_HUMAN UniProtKB/TrEMBL
  A0A2R8YH74_HUMAN UniProtKB/TrEMBL
  A0A5F9ZGW0_HUMAN UniProtKB/TrEMBL
  B1ALS0_HUMAN UniProtKB/TrEMBL
  KGP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A5YM56 UniProtKB/Swiss-Prot
  A6NFM3 UniProtKB/TrEMBL
  B3KSF3 UniProtKB/Swiss-Prot
  E2PU10 UniProtKB/Swiss-Prot
  P14619 UniProtKB/Swiss-Prot
  Q5JP05 UniProtKB/Swiss-Prot
  Q5JSJ6 UniProtKB/Swiss-Prot
  Q6P5T7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-04-24 PRKG1  protein kinase cGMP-dependent 1    protein kinase, cGMP-dependent, type I  Symbol and/or name change 5135510 APPROVED
2011-09-13 PRKG1  protein kinase, cGMP-dependent, type I  PRKG1  protein kinase, cGMP-dependent, type I  Symbol and/or name change 5135510 APPROVED