PRKCG (protein kinase C gamma) - Rat Genome Database

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Gene: PRKCG (protein kinase C gamma) Homo sapiens
Analyze
Symbol: PRKCG
Name: protein kinase C gamma
RGD ID: 732858
HGNC Page HGNC:9402
Description: Enables protein serine/threonine/tyrosine kinase activity. Involved in negative regulation of protein metabolic process; phosphorylation; and positive regulation of mismatch repair. Predicted to be located in several cellular components, including dendrite; perinuclear region of cytoplasm; and presynapse. Predicted to be active in calyx of Held; postsynaptic cytosol; and presynaptic cytosol. Implicated in spinocerebellar ataxia type 14. Biomarker of middle cerebral artery infarction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC57564; PKC-gamma; PKCC; PKCG; PKCgamma; PKCI(3); protein kinase C gamma type; SCA14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381953,881,094 - 53,907,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1953,879,190 - 53,907,652 (+)EnsemblGRCh38hg38GRCh38
GRCh371954,385,451 - 54,410,906 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361959,077,279 - 59,102,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 341959,077,278 - 59,102,713NCBI
Celera1951,426,508 - 51,451,938 (+)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1950,704,660 - 50,730,288 (+)NCBIHuRef
CHM1_11954,386,673 - 54,412,682 (+)NCBICHM1_1
T2T-CHM13v2.01956,960,799 - 56,987,358 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-alpha-methyl-4-carboxyphenylglycine  (ISO)
(S)-naringenin  (EXP)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-5-phosphonopentanoic acid  (ISO)
2-methoxyethanol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bryostatin 1  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
Calphostin C  (ISO)
celecoxib  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
daidzein  (ISO)
deoxynivalenol  (ISO)
dimethylarsinic acid  (ISO)
dizocilpine maleate  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenamidone  (ISO)
fluoxetine  (ISO)
FR900359  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lidocaine  (ISO)
lithium atom  (EXP)
lithium hydride  (EXP)
memantine  (ISO)
mercury atom  (ISO)
mercury(0)  (ISO)
methoxyacetic acid  (ISO)
Mezerein  (EXP)
morphine  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-methyl-D-aspartic acid  (ISO)
ozone  (ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phencyclidine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pioglitazone  (EXP)
quercetin  (ISO)
Rebamipide  (ISO)
remifentanil  (ISO)
resveratrol  (ISO)
Ro 31-8220  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP)
thiram  (EXP)
triclosan  (EXP)
trimethylarsine oxide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Segregation of a PRKCG mutation in two RP11 families. Al-Maghtheh M, etal., Am J Hum Genet 1998 May;62(5):1248-52.
2. Transient translocation of protein kinase Cgamma in hippocampal long-term potentiation depends on activation of metabotropic glutamate receptors. Angenstein F, etal., Neuroscience. 1999;93(4):1289-95. doi: 10.1016/s0306-4522(99)00315-2.
3. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Chen DH, etal., Am J Hum Genet 2003 Apr;72(4):839-49. Epub 2003 Mar 17.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Protein kinase C-gamma and calcium/calmodulin-dependent protein kinase II-alpha are persistently translocated to cell membranes of the rat brain during and after middle cerebral artery occlusion. Matsumoto S, etal., J Cereb Blood Flow Metab 2004 Jan;24(1):54-61.
6. Protein kinase C: poised to signal. Newton AC Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E395-402. Epub 2009 Nov 24.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. D-2-amino-5-phosphonopentanoic acid inhibits intrathecal pertussis toxin-induced thermal hyperalgesia and protein kinase Cgamma up-regulation. Wen ZH, etal., Brain Res. 2003 Feb 14;963(1-2):1-7. doi: 10.1016/s0006-8993(02)03751-4.
14. Regulation of insulin receptor function. Youngren JF Cell Mol Life Sci. 2007 Apr;64(7-8):873-91.
Additional References at PubMed
PMID:1714454   PMID:1832084   PMID:1970444   PMID:2139676   PMID:2182321   PMID:2307474   PMID:2460293   PMID:3259291   PMID:3755548   PMID:7499337   PMID:7588787   PMID:7606770  
PMID:7642615   PMID:7850771   PMID:7876252   PMID:8080473   PMID:8206685   PMID:8375396   PMID:8432525   PMID:8473314   PMID:8599832   PMID:8627654   PMID:8631738   PMID:8662663  
PMID:8914829   PMID:8940095   PMID:8940188   PMID:9030777   PMID:9151826   PMID:9244383   PMID:9345108   PMID:9446795   PMID:9576922   PMID:9671211   PMID:9694886   PMID:9786959  
PMID:9814702   PMID:10194441   PMID:10212259   PMID:10433554   PMID:10441600   PMID:10491200   PMID:10531036   PMID:10542228   PMID:10547041   PMID:10641798   PMID:10843712   PMID:10856305  
PMID:10862698   PMID:10871288   PMID:10939565   PMID:11035810   PMID:11042191   PMID:11044099   PMID:11063746   PMID:11104762   PMID:11123317   PMID:11141237   PMID:11154208   PMID:11278415  
PMID:11306676   PMID:11325528   PMID:11502742   PMID:11504923   PMID:11700305   PMID:11749387   PMID:11833470   PMID:11884598   PMID:11919157   PMID:12054501   PMID:12091471   PMID:12093536  
PMID:12134071   PMID:12147342   PMID:12164726   PMID:12417016   PMID:12471040   PMID:12477932   PMID:12482669   PMID:12519779   PMID:12551925   PMID:12569090   PMID:12950453   PMID:12954613  
PMID:12958364   PMID:14561742   PMID:14654844   PMID:14676051   PMID:14676191   PMID:14694043   PMID:14699138   PMID:15003508   PMID:15014953   PMID:15148151   PMID:15313841   PMID:15364919  
PMID:15381704   PMID:15459208   PMID:15467523   PMID:15489334   PMID:15689238   PMID:15808853   PMID:15851033   PMID:15894802   PMID:15964845   PMID:16055064   PMID:16193476   PMID:16394101  
PMID:16713569   PMID:16828200   PMID:17203073   PMID:17233759   PMID:17343273   PMID:17508994   PMID:17562946   PMID:17659643   PMID:17708558   PMID:18499672   PMID:18503760   PMID:18577246  
PMID:18577575   PMID:18716283   PMID:19041943   PMID:19060919   PMID:19165527   PMID:19234085   PMID:19363595   PMID:19561170   PMID:19895572   PMID:19913121   PMID:20188713   PMID:20301317  
PMID:20301573   PMID:20336759   PMID:20346360   PMID:20395553   PMID:20398063   PMID:20471030   PMID:20627017   PMID:20628086   PMID:20804422   PMID:21235400   PMID:21434874   PMID:21482705  
PMID:21536681   PMID:21651489   PMID:21827914   PMID:21832049   PMID:21873635   PMID:21906004   PMID:22114277   PMID:22114345   PMID:22675081   PMID:22797923   PMID:22939624   PMID:24021284  
PMID:24117238   PMID:24134140   PMID:24937631   PMID:25217572   PMID:25252845   PMID:25639486   PMID:25663494   PMID:26112605   PMID:26921055   PMID:27503909   PMID:27531930   PMID:28162934  
PMID:28514442   PMID:28554312   PMID:28738819   PMID:29167402   PMID:29550816   PMID:29603387   PMID:30249303   PMID:31158466   PMID:31980649   PMID:32393512   PMID:32707033   PMID:32814053  
PMID:33739604   PMID:33961781   PMID:34292398   PMID:34373451   PMID:34857952   PMID:35760954   PMID:36012439   PMID:36274974   PMID:36803152   PMID:36931259  


Genomics

Comparative Map Data
PRKCG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381953,881,094 - 53,907,652 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1953,879,190 - 53,907,652 (+)EnsemblGRCh38hg38GRCh38
GRCh371954,385,451 - 54,410,906 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361959,077,279 - 59,102,713 (+)NCBINCBI36Build 36hg18NCBI36
Build 341959,077,278 - 59,102,713NCBI
Celera1951,426,508 - 51,451,938 (+)NCBICelera
Cytogenetic Map19q13.42NCBI
HuRef1950,704,660 - 50,730,288 (+)NCBIHuRef
CHM1_11954,386,673 - 54,412,682 (+)NCBICHM1_1
T2T-CHM13v2.01956,960,799 - 56,987,358 (+)NCBIT2T-CHM13v2.0
Prkcg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3973,352,038 - 3,379,615 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl73,337,704 - 3,379,615 (+)EnsemblGRCm39 Ensembl
GRCm3873,303,532 - 3,331,099 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl73,289,179 - 3,331,099 (+)EnsemblGRCm38mm10GRCm38
MGSCv3773,303,658 - 3,331,005 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3673,303,658 - 3,331,005 (+)NCBIMGSCv36mm8
Celera73,254,377 - 3,281,532 (+)NCBICelera
Cytogenetic Map7A1NCBI
cM Map71.93NCBI
Prkcg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8174,748,272 - 74,777,611 (-)NCBIGRCr8
mRatBN7.2165,832,851 - 65,860,676 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl165,832,855 - 65,859,384 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx171,281,002 - 71,307,568 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0179,703,990 - 79,730,541 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0173,037,259 - 73,063,810 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0164,407,098 - 64,433,698 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl164,407,114 - 64,433,636 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0163,399,153 - 63,425,645 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4164,145,749 - 64,172,712 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1164,223,859 - 64,250,823 (-)NCBI
Celera163,557,681 - 63,584,062 (-)NCBICelera
Cytogenetic Map1q12NCBI
Prkcg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955604262,071 - 279,259 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955604262,182 - 279,259 (-)NCBIChiLan1.0ChiLan1.0
PRKCG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22059,894,490 - 59,920,148 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11961,816,427 - 61,842,055 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01950,823,372 - 50,849,003 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11959,671,762 - 59,696,728 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1959,672,097 - 59,695,977 (+)Ensemblpanpan1.1panPan2
PRKCG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11103,295,110 - 103,312,562 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1103,361,568 - 103,378,698 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01103,950,090 - 103,967,279 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1103,950,021 - 103,967,324 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11103,582,545 - 103,599,712 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01103,344,283 - 103,361,444 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01104,063,257 - 104,080,431 (-)NCBIUU_Cfam_GSD_1.0
Prkcg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093492,832,669 - 2,850,276 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493699487,519 - 105,134 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493699487,525 - 105,125 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRKCG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl656,213,480 - 56,234,210 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1656,213,479 - 56,235,683 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2652,981,725 - 53,001,720 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRKCG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1646,574,560 - 46,600,329 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl646,575,439 - 46,600,364 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607326,653,473 - 26,678,402 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prkcg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248322,547,535 - 2,566,402 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248322,548,286 - 2,566,365 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRKCG
276 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002739.5(PRKCG):c.397+10C>G single nucleotide variant not provided [RCV003482270] Chr19:53889759 [GRCh38]
Chr19:54393013 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.415C>A (p.His139Asn) single nucleotide variant not specified [RCV000517893] Chr19:53889903 [GRCh38]
Chr19:54393157 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.530_919del deletion Spinocerebellar ataxia type 14 [RCV000022736] Chr19:19q13.4 pathogenic
NM_002739.5(PRKCG):c.866C>T (p.Pro289Leu) single nucleotide variant not provided [RCV000518101] Chr19:53893032 [GRCh38]
Chr19:54396286 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1081A>C (p.Ser361Arg) single nucleotide variant not specified [RCV000517423] Chr19:53898100 [GRCh38]
Chr19:54401354 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000022737] Chr19:53900612 [GRCh38]
Chr19:54403866 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014149]|not provided [RCV001268861] Chr19:53889653 [GRCh38]
Chr19:54392907 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014150] Chr19:53889707 [GRCh38]
Chr19:54392961 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014151] Chr19:53889735 [GRCh38]
Chr19:54392989 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014152]|not provided [RCV001698941] Chr19:53889705 [GRCh38]
Chr19:54392959 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014153]|not provided [RCV000517594] Chr19:53889732 [GRCh38]
Chr19:54392986 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014154] Chr19:53906728 [GRCh38]
Chr19:54409982 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014155]|not provided [RCV001288717] Chr19:53898100 [GRCh38]
Chr19:54401354 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000014156] Chr19:53889655 [GRCh38]
Chr19:54392909 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) deletion Spinocerebellar ataxia type 14 [RCV000014157] Chr19:53906892..53906993 [GRCh38]
Chr19:54410146..54410247 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034956] Chr19:53898097 [GRCh38]
Chr19:54401351 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034959]|not provided [RCV004700304] Chr19:53882616 [GRCh38]
Chr19:54385870 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034967]|not provided [RCV001818213] Chr19:53883180 [GRCh38]
Chr19:54386434 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034972]|not provided [RCV000766758]|not specified [RCV000516815] Chr19:53906876 [GRCh38]
Chr19:54410130 [GRCh37]
Chr19:19q13.42		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034975] Chr19:53884187 [GRCh38]
Chr19:54387441 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del) deletion Spinocerebellar ataxia type 14 [RCV000034984] Chr19:53889648..53889653 [GRCh38]
Chr19:54392902..54392907 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034988] Chr19:53889693 [GRCh38]
Chr19:54392947 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034990]|not provided [RCV000713005] Chr19:53889708 [GRCh38]
Chr19:54392962 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034991] Chr19:53889719 [GRCh38]
Chr19:54392973 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034992]|not provided [RCV003886368] Chr19:53889720 [GRCh38]
Chr19:54392974 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034993] Chr19:53889743 [GRCh38]
Chr19:54392997 [GRCh37]
Chr19:19q13.42		 pathogenic|not provided
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034994]|not provided [RCV000992817] Chr19:53889744 [GRCh38]
Chr19:54392998 [GRCh37]
Chr19:19q13.42		 pathogenic|uncertain significance|not provided
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034996]|not provided [RCV000992818] Chr19:53889901 [GRCh38]
Chr19:54393155 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe) indel Spinocerebellar ataxia type 14 [RCV000034997] Chr19:53889937..53889938 [GRCh38]
Chr19:54393191..54393192 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.417C>A (p.His139Gln) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000034998] Chr19:53889905 [GRCh38]
Chr19:54393159 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000035003] Chr19:53882570 [GRCh38]
Chr19:54385824 [GRCh37]
Chr19:19q13.42		 pathogenic|not provided
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.42(chr19:53553042-53899466)x3 copy number gain See cases [RCV000052593] Chr19:53553042..53899466 [GRCh38]
Chr19:54056296..54402720 [GRCh37]
Chr19:58748108..59094532 [NCBI36]
Chr19:19q13.42		 uncertain significance
NM_002739.3(PRKCG):c.947G>A (p.Arg316Gln) single nucleotide variant Malignant melanoma [RCV000072338] Chr19:53897966 [GRCh38]
Chr19:54401220 [GRCh37]
Chr19:59093032 [NCBI36]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.534C>T (p.Gly178=) single nucleotide variant not provided [RCV000084800] Chr19:53891678 [GRCh38]
Chr19:54394932 [GRCh37]
Chr19:19q13.42		 likely benign|not provided
NM_002739.5(PRKCG):c.613C>T (p.Arg205Trp) single nucleotide variant not provided [RCV000084801] Chr19:53891757 [GRCh38]
Chr19:54395011 [GRCh37]
Chr19:19q13.42		 uncertain significance|not provided
NM_002739.5(PRKCG):c.683T>C (p.Val228Ala) single nucleotide variant not provided [RCV000084802] Chr19:53891827 [GRCh38]
Chr19:54395081 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.714C>T (p.Arg238=) single nucleotide variant not provided [RCV000084803] Chr19:53892536 [GRCh38]
Chr19:54395790 [GRCh37]
Chr19:19q13.42		 benign|not provided
NM_002739.5(PRKCG):c.807G>A (p.Ala269=) single nucleotide variant not provided [RCV000084804] Chr19:53892629 [GRCh38]
Chr19:54395883 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.861T>C (p.Asn287=) single nucleotide variant not provided [RCV000084805] Chr19:53893027 [GRCh38]
Chr19:54396281 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.862G>A (p.Val288Met) single nucleotide variant not provided [RCV000084806] Chr19:53893028 [GRCh38]
Chr19:54396282 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.955C>A (p.Pro319Thr) single nucleotide variant not provided [RCV000084807]|not specified [RCV001814973] Chr19:53897974 [GRCh38]
Chr19:54401228 [GRCh37]
Chr19:19q13.42		 uncertain significance|not provided
NM_002739.5(PRKCG):c.1029A>G (p.Pro343=) single nucleotide variant not provided [RCV000084808] Chr19:53898048 [GRCh38]
Chr19:54401302 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.1608C>T (p.Val536=) single nucleotide variant not provided [RCV000084809] Chr19:53903105 [GRCh38]
Chr19:54406359 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.1746C>T (p.Ala582=) single nucleotide variant not provided [RCV000084810] Chr19:53904724 [GRCh38]
Chr19:54407978 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.1862G>A (p.Arg621Gln) single nucleotide variant not provided [RCV000084811] Chr19:53906414 [GRCh38]
Chr19:54409668 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.1899C>T (p.Pro633=) single nucleotide variant PRKCG-related disorder [RCV003964956]|not provided [RCV000084812] Chr19:53906451 [GRCh38]
Chr19:54409705 [GRCh37]
Chr19:19q13.42		 likely benign|not provided
NM_002739.5(PRKCG):c.1948G>T (p.Ala650Ser) single nucleotide variant not provided [RCV000084813] Chr19:53906749 [GRCh38]
Chr19:54410003 [GRCh37]
Chr19:19q13.42		 not provided
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000616613]|not provided [RCV000710208]|not specified [RCV000118062] Chr19:53891711 [GRCh38]
Chr19:54394965 [GRCh37]
Chr19:19q13.42		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000611784]|not provided [RCV000992824]|not specified [RCV000118063] Chr19:53882566 [GRCh38]
Chr19:54385820 [GRCh37]
Chr19:19q13.42		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000367304]|not provided [RCV001668333]|not specified [RCV000174736] Chr19:53900671 [GRCh38]
Chr19:54403925 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) single nucleotide variant not provided [RCV000174735]|not specified [RCV001288719] Chr19:53900698 [GRCh38]
Chr19:54403952 [GRCh37]
Chr19:19q13.42		 benign|uncertain significance
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000194843] Chr19:53882648 [GRCh38]
Chr19:54385902 [GRCh37]
Chr19:19q13.42		 likely pathogenic
GRCh37/hg19 19q13.42(chr19:54280799-54486105)x3 copy number gain See cases [RCV000240206] Chr19:54280799..54486105 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42(chr19:54082353-54486105)x3 copy number gain See cases [RCV000240228] Chr19:54082353..54486105 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.412G>A (p.Val138Met) single nucleotide variant not specified [RCV000517141] Chr19:53889900 [GRCh38]
Chr19:54393154 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1 copy number loss See cases [RCV000240343] Chr19:54280799..54635178 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000625043]|not provided [RCV001660684] Chr19:53884165 [GRCh38]
Chr19:54387419 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.*48G>A single nucleotide variant Spinocerebellar ataxia type 14 [RCV000291299] Chr19:53906943 [GRCh38]
Chr19:54410197 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000259840]|not provided [RCV000886244] Chr19:53906742 [GRCh38]
Chr19:54409996 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.*670T>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV000299022] Chr19:53907565 [GRCh38]
Chr19:54410819 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) single nucleotide variant PRKCG-related disorder [RCV003940322]|Spinocerebellar ataxia type 14 [RCV000354686]|not provided [RCV000886327]|not specified [RCV001660686] Chr19:53906388 [GRCh38]
Chr19:54409642 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.2086G>A (p.Val696Ile) single nucleotide variant Inborn genetic diseases [RCV004021758]|Spinocerebellar ataxia type 14 [RCV000321761] Chr19:53906887 [GRCh38]
Chr19:54410141 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1960C>T (p.Leu654=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000324443] Chr19:53906761 [GRCh38]
Chr19:54410015 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.686+14G>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000604103]|not provided [RCV001597092] Chr19:53891844 [GRCh38]
Chr19:54395098 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.-169G>C single nucleotide variant Autosomal dominant cerebellar ataxia [RCV000315860] Chr19:53882326 [GRCh38]
Chr19:54385580 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.-233C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000279458] Chr19:53882262 [GRCh38]
Chr19:54385516 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) single nucleotide variant PRKCG-related disorder [RCV003940321]|Spinocerebellar ataxia type 14 [RCV000306606]|not provided [RCV000992821] Chr19:53891786 [GRCh38]
Chr19:54395040 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000283144]|not provided [RCV000962758] Chr19:53906860 [GRCh38]
Chr19:54410114 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.1962G>C (p.Leu654=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000379051] Chr19:53906763 [GRCh38]
Chr19:54410017 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*550C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000355282] Chr19:53907445 [GRCh38]
Chr19:54410699 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.441C>T (p.Pro147=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000291055]|not provided [RCV003311760] Chr19:53889929 [GRCh38]
Chr19:54393183 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000625044]|not provided [RCV001527940]|not specified [RCV001660685] Chr19:53900449 [GRCh38]
Chr19:54403703 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.*39C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000383319] Chr19:53906934 [GRCh38]
Chr19:54410188 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*199C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000407608]|not provided [RCV002285315] Chr19:53907094 [GRCh38]
Chr19:54410348 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000576531]|not provided [RCV000514790]|not specified [RCV001643027] Chr19:53884243 [GRCh38]
Chr19:54387497 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000263306]|not provided [RCV000713002] Chr19:53904700 [GRCh38]
Chr19:54407954 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.*596C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000403367] Chr19:53907491 [GRCh38]
Chr19:54410745 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.712C>T (p.Arg238Cys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000405542] Chr19:53892534 [GRCh38]
Chr19:54395788 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*428C>G single nucleotide variant Spinocerebellar ataxia type 14 [RCV000407607]|not provided [RCV004717314] Chr19:53907323 [GRCh38]
Chr19:54410577 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.286-12C>A single nucleotide variant Spinocerebellar ataxia type 14 [RCV000407373] Chr19:53889626 [GRCh38]
Chr19:54392880 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) single nucleotide variant Inborn genetic diseases [RCV002521249]|Spinocerebellar ataxia type 14 [RCV000318440] Chr19:53904708 [GRCh38]
Chr19:54407962 [GRCh37]
Chr19:19q13.42		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV002272258]|not provided [RCV000490213] Chr19:53889963 [GRCh38]
Chr19:54393217 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.2004del (p.Asp669fs) deletion not provided [RCV002221549]|not specified [RCV000518722] Chr19:53906804 [GRCh38]
Chr19:54410058 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.343G>T (p.Asp115Tyr) single nucleotide variant not provided [RCV000487805] Chr19:53889695 [GRCh38]
Chr19:54392949 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.518T>G (p.Ile173Ser) single nucleotide variant not specified [RCV002283385] Chr19:53890006 [GRCh38]
Chr19:54393260 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1595A>G (p.Tyr532Cys) single nucleotide variant not provided [RCV003321275] Chr19:53903092 [GRCh38]
Chr19:54406346 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.529+11G>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV000346000] Chr19:53890028 [GRCh38]
Chr19:54393282 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1281+9G>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131454]|not provided [RCV004704040]|not specified [RCV000516586] Chr19:53898637 [GRCh38]
Chr19:54401891 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.745C>T (p.Arg249Trp) single nucleotide variant not specified [RCV000517026] Chr19:53892567 [GRCh38]
Chr19:54395821 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*360G>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV000294739] Chr19:53907255 [GRCh38]
Chr19:54410509 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*427T>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV000351941] Chr19:53907322 [GRCh38]
Chr19:54410576 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*481T>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV000312117] Chr19:53907376 [GRCh38]
Chr19:54410630 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*59dup duplication Autosomal dominant cerebellar ataxia [RCV000343813] Chr19:53906950..53906951 [GRCh38]
Chr19:54410204..54410205 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1985T>C (p.Leu662Pro) single nucleotide variant not specified [RCV000517660] Chr19:53906786 [GRCh38]
Chr19:54410040 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000611141]|not provided [RCV001724087] Chr19:53892537 [GRCh38]
Chr19:54395791 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.173G>A (p.Gly58Asp) single nucleotide variant not provided [RCV000415865] Chr19:53883165 [GRCh38]
Chr19:54386419 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
NM_002739.5(PRKCG):c.910-12_910-9del microsatellite not specified [RCV000482200] Chr19:53893345..53893348 [GRCh38]
Chr19:54396599..54396602 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000501395] Chr19:53883189 [GRCh38]
Chr19:54386443 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu) single nucleotide variant not provided [RCV000713008]|not specified [RCV000503811] Chr19:53889967 [GRCh38]
Chr19:54393221 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1858G>A (p.Glu620Lys) single nucleotide variant not specified [RCV000499835] Chr19:53906410 [GRCh38]
Chr19:54409664 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1706A>G (p.Glu569Gly) single nucleotide variant Inborn genetic diseases [RCV000624501]|not provided [RCV000992813] Chr19:53904684 [GRCh38]
Chr19:54407938 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1192G>T (p.Val398Leu) single nucleotide variant not provided [RCV001755769]|not specified [RCV000518497] Chr19:53898539 [GRCh38]
Chr19:54401793 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000600767]|not provided [RCV001288723] Chr19:53904725 [GRCh38]
Chr19:54407979 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.1843C>T (p.Arg615Cys) single nucleotide variant Inborn genetic diseases [RCV000624917] Chr19:53906395 [GRCh38]
Chr19:54409649 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_002739.5(PRKCG):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000658854] Chr19:53882495 [GRCh38]
Chr19:54385749 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42(chr19:54082504-54417191)x3 copy number gain not provided [RCV000684078] Chr19:54082504..54417191 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3 copy number gain not provided [RCV000684091] Chr19:53867570..55833460 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
NM_002739.5(PRKCG):c.221A>G (p.His74Arg) single nucleotide variant not provided [RCV000713003] Chr19:53884179 [GRCh38]
Chr19:54387433 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.362T>C (p.Leu121Pro) single nucleotide variant not provided [RCV000713006] Chr19:53889714 [GRCh38]
Chr19:54392968 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg) single nucleotide variant not provided [RCV000713007]|not specified [RCV003323698] Chr19:53889734 [GRCh38]
Chr19:54392988 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.495C>G (p.Ile165Met) single nucleotide variant not provided [RCV000713009] Chr19:53889983 [GRCh38]
Chr19:54393237 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.530-6G>A single nucleotide variant not provided [RCV000713010] Chr19:53891668 [GRCh38]
Chr19:54394922 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.229T>C (p.Cys77Arg) single nucleotide variant not provided [RCV000713004] Chr19:53884187 [GRCh38]
Chr19:54387441 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.638G>A (p.Arg213Gln) single nucleotide variant not provided [RCV000713011] Chr19:53891782 [GRCh38]
Chr19:54395036 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1284C>T (p.Asp428=) single nucleotide variant not provided [RCV001573547] Chr19:53900235 [GRCh38]
Chr19:54403489 [GRCh37]
Chr19:19q13.42		 likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647202]|not provided [RCV001664829] Chr19:53889954 [GRCh38]
Chr19:54393208 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647201] Chr19:53900426 [GRCh38]
Chr19:54403680 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1576-136T>C single nucleotide variant not provided [RCV001708745] Chr19:53902937 [GRCh38]
Chr19:54406191 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001542611] Chr19:53889675 [GRCh38]
Chr19:54392929 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1103C>T (p.Ala368Val) single nucleotide variant not provided [RCV003238940] Chr19:53898450 [GRCh38]
Chr19:54401704 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1622T>G (p.Phe541Cys) single nucleotide variant not provided [RCV001551289] Chr19:53903119 [GRCh38]
Chr19:54406373 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*84C>A single nucleotide variant Spinocerebellar ataxia type 14 [RCV001135906] Chr19:53906979 [GRCh38]
Chr19:54410233 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1362G>A (p.Glu454=) single nucleotide variant not provided [RCV000924227] Chr19:53900313 [GRCh38]
Chr19:54403567 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.891C>T (p.Ser297=) single nucleotide variant not provided [RCV000907151] Chr19:53893057 [GRCh38]
Chr19:54396311 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.2043G>C (p.Val681=) single nucleotide variant PRKCG-related disorder [RCV003933204]|not provided [RCV000939493] Chr19:53906844 [GRCh38]
Chr19:54410098 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1789C>T (p.Arg597Cys) single nucleotide variant not provided [RCV003314855] Chr19:53906341 [GRCh38]
Chr19:54409595 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln) single nucleotide variant Inborn genetic diseases [RCV002544532]|not provided [RCV000937814]|not specified [RCV001288724] Chr19:53906423 [GRCh38]
Chr19:54409677 [GRCh37]
Chr19:19q13.42		 benign|likely benign|uncertain significance
NM_002739.5(PRKCG):c.1055G>A (p.Ser352Asn) single nucleotide variant not provided [RCV000992810] Chr19:53898074 [GRCh38]
Chr19:54401328 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1225G>C (p.Gly409Arg) single nucleotide variant not provided [RCV000992811] Chr19:53898572 [GRCh38]
Chr19:54401826 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1668T>G (p.Asp556Glu) single nucleotide variant not provided [RCV000992812] Chr19:53904646 [GRCh38]
Chr19:54407900 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.707T>C (p.Val236Ala) single nucleotide variant not provided [RCV000992823] Chr19:53892529 [GRCh38]
Chr19:54395783 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.811G>A (p.Val271Met) single nucleotide variant not provided [RCV000992825] Chr19:53892633 [GRCh38]
Chr19:54395887 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1764+1G>A single nucleotide variant not provided [RCV000997007] Chr19:53904743 [GRCh38]
Chr19:54407997 [GRCh37]
Chr19:19q13.42		 likely pathogenic|conflicting interpretations of pathogenicity
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000991053]|not provided [RCV001288726] Chr19:53889719 [GRCh38]
Chr19:54392973 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NM_002739.5(PRKCG):c.736G>C (p.Asp246His) single nucleotide variant not provided [RCV000997006] Chr19:53892558 [GRCh38]
Chr19:54395812 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.234C>T (p.His78=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001135789] Chr19:53884192 [GRCh38]
Chr19:54387446 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000786070] Chr19:53906435 [GRCh38]
Chr19:54409689 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NC_000019.10:g.53536530_53981185dup duplication Silver Russell Syndrome-related disorder [RCV000785667] Chr19:53536530..53981185 [GRCh38]
Chr19:54039784..54484439 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1739G>A (p.Arg580Gln) single nucleotide variant not provided [RCV001091271] Chr19:53904717 [GRCh38]
Chr19:54407971 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1764+8C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV001134434] Chr19:53904750 [GRCh38]
Chr19:54408004 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.409A>T (p.Asn137Tyr) single nucleotide variant not provided [RCV001091269] Chr19:53889897 [GRCh38]
Chr19:54393151 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.208_231del (p.Ser70_Cys77del) deletion not provided [RCV000992814] Chr19:53884163..53884186 [GRCh38]
Chr19:54387417..54387440 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.254G>T (p.Cys85Phe) single nucleotide variant not provided [RCV000992816] Chr19:53884212 [GRCh38]
Chr19:54387466 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg) single nucleotide variant not provided [RCV000992819] Chr19:53889936 [GRCh38]
Chr19:54393190 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu) single nucleotide variant not provided [RCV000992822] Chr19:53882562 [GRCh38]
Chr19:54385816 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.940-3C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131453] Chr19:53897956 [GRCh38]
Chr19:54401210 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000991047]|not provided [RCV003480895] Chr19:53889731 [GRCh38]
Chr19:54392985 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV000991052]|not provided [RCV000992815] Chr19:53884188 [GRCh38]
Chr19:54387442 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu) single nucleotide variant not provided [RCV000992820] Chr19:53889964 [GRCh38]
Chr19:54393218 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*184C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV001135907] Chr19:53907079 [GRCh38]
Chr19:54410333 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001175615] Chr19:53889654 [GRCh38]
Chr19:54392908 [GRCh37]
Chr19:19q13.42		 pathogenic|likely pathogenic|not provided
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001175616] Chr19:53884243 [GRCh38]
Chr19:54387497 [GRCh37]
Chr19:19q13.42		 benign|not provided
NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn) single nucleotide variant Inborn genetic diseases [RCV002560273]|not provided [RCV001200248] Chr19:53884241 [GRCh38]
Chr19:54387495 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1232G>C (p.Gly411Ala) single nucleotide variant Spinocerebellar ataxia type 14 [RCV003127186] Chr19:53898579 [GRCh38]
Chr19:54401833 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.529+29G>A single nucleotide variant not provided [RCV001650650] Chr19:53890046 [GRCh38]
Chr19:54393300 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1281+161_1281+164del deletion not provided [RCV001673945] Chr19:53898789..53898792 [GRCh38]
Chr19:54402043..54402046 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+130_821+131insGC insertion not provided [RCV001722956] Chr19:53892772..53892773 [GRCh38]
Chr19:54396026..54396027 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+150CA[5] microsatellite not provided [RCV001722958] Chr19:53892792..53892793 [GRCh38]
Chr19:54396046..54396047 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+139G>A single nucleotide variant not provided [RCV001722959] Chr19:53892782 [GRCh38]
Chr19:54396036 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+110CA[12] microsatellite not provided [RCV001723109] Chr19:53892753..53892756 [GRCh38]
Chr19:54396007..54396010 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1905+72G>C single nucleotide variant not provided [RCV001661003] Chr19:53906529 [GRCh38]
Chr19:54409783 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1576-161A>C single nucleotide variant not provided [RCV001651413] Chr19:53902912 [GRCh38]
Chr19:54406166 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.687-147G>C single nucleotide variant not provided [RCV001671538] Chr19:53892362 [GRCh38]
Chr19:54395616 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+107GC[3] microsatellite not provided [RCV001669776] Chr19:53892749..53892750 [GRCh38]
Chr19:54396003..54396004 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.171-192G>T single nucleotide variant not provided [RCV001642161] Chr19:53882971 [GRCh38]
Chr19:54386225 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.286-203dup duplication not provided [RCV001614877] Chr19:53889424..53889425 [GRCh38]
Chr19:54392678..54392679 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1926C>G (p.Asn642Lys) single nucleotide variant Hereditary ataxia [RCV001696755]|not provided [RCV003883699] Chr19:53906727 [GRCh38]
Chr19:54409981 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.810C>T (p.Pro270=) single nucleotide variant not provided [RCV000931012] Chr19:53892632 [GRCh38]
Chr19:54395886 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.530-7C>T single nucleotide variant not provided [RCV000910142] Chr19:53891667 [GRCh38]
Chr19:54394921 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1794G>A (p.Leu598=) single nucleotide variant not provided [RCV000885698] Chr19:53906346 [GRCh38]
Chr19:54409600 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001175614] Chr19:53892589 [GRCh38]
Chr19:54395843 [GRCh37]
Chr19:19q13.42		 pathogenic|not provided
NM_002739.5(PRKCG):c.*622C>G single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131574] Chr19:53907517 [GRCh38]
Chr19:54410771 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42		 not provided
NM_002739.5(PRKCG):c.1906-10T>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV001134436] Chr19:53906697 [GRCh38]
Chr19:54409951 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*426C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV001128906] Chr19:53907321 [GRCh38]
Chr19:54410575 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) single nucleotide variant PRKCG-related disorder [RCV003963073]|Spinocerebellar ataxia type 14 [RCV001135790] Chr19:53889986 [GRCh38]
Chr19:54393240 [GRCh37]
Chr19:19q13.42		 benign|likely benign
NM_002739.5(PRKCG):c.708G>A (p.Val236=) single nucleotide variant not provided [RCV000913894] Chr19:53892530 [GRCh38]
Chr19:54395784 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.940-211del deletion not provided [RCV001657005] Chr19:53897742 [GRCh38]
Chr19:54400996 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.878C>G (p.Ala293Gly) single nucleotide variant not provided [RCV001562762] Chr19:53893044 [GRCh38]
Chr19:54396298 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.821+110CA[15] microsatellite not provided [RCV001721695] Chr19:53892752..53892753 [GRCh38]
Chr19:54396006..54396007 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1728G>C (p.Lys576Asn) single nucleotide variant Inborn genetic diseases [RCV003264070]|not provided [RCV001596659] Chr19:53904706 [GRCh38]
Chr19:54407960 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1764+39_1764+40insT insertion not provided [RCV001675440] Chr19:53904781..53904782 [GRCh38]
Chr19:54408035..54408036 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.286-66A>C single nucleotide variant not provided [RCV001719341] Chr19:53889572 [GRCh38]
Chr19:54392826 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1656+191A>T single nucleotide variant not provided [RCV001674963] Chr19:53903344 [GRCh38]
Chr19:54406598 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.530-216dup duplication not provided [RCV001719204] Chr19:53891443..53891444 [GRCh38]
Chr19:54394697..54394698 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.866C>A (p.Pro289Gln) single nucleotide variant not provided [RCV001663447] Chr19:53893032 [GRCh38]
Chr19:54396286 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.909+76_909+77del deletion not provided [RCV001674128] Chr19:53893151..53893152 [GRCh38]
Chr19:54396405..54396406 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.203-202G>T single nucleotide variant not provided [RCV001677113] Chr19:53883959 [GRCh38]
Chr19:54387213 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1575+133T>G single nucleotide variant not provided [RCV001654666] Chr19:53900882 [GRCh38]
Chr19:54404136 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+149_821+154del deletion not provided [RCV001722694] Chr19:53892787..53892792 [GRCh38]
Chr19:54396041..54396046 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.822-14C>T single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131452]|not provided [RCV004704437] Chr19:53892974 [GRCh38]
Chr19:54396228 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1665C>T (p.Phe555=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131456] Chr19:53904643 [GRCh38]
Chr19:54407897 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.520C>G (p.His174Asp) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001128797] Chr19:53890008 [GRCh38]
Chr19:54393262 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.286-311G>A single nucleotide variant not provided [RCV001616638] Chr19:53889327 [GRCh38]
Chr19:54392581 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1281+236A>T single nucleotide variant not provided [RCV001665678] Chr19:53898864 [GRCh38]
Chr19:54402118 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.263C>T (p.Ala88Val) single nucleotide variant not specified [RCV001174598] Chr19:53884221 [GRCh38]
Chr19:54387475 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001542613] Chr19:53889746 [GRCh38]
Chr19:54393000 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647200] Chr19:53906729 [GRCh38]
Chr19:54409983 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1308C>G (p.Tyr436Ter) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647203] Chr19:53900259 [GRCh38]
Chr19:54403513 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.1281+26T>G single nucleotide variant not provided [RCV001669266] Chr19:53898654 [GRCh38]
Chr19:54401908 [GRCh37]
Chr19:19q13.42		 benign
NC_000019.10:g.53882183A>C single nucleotide variant not provided [RCV001669281] Chr19:53882183 [GRCh38]
Chr19:54385437 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647231] Chr19:53889732 [GRCh38]
Chr19:54392986 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.203-102A>T single nucleotide variant not provided [RCV001648521] Chr19:53884059 [GRCh38]
Chr19:54387313 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.821+115A>G single nucleotide variant not provided [RCV001645273] Chr19:53892758 [GRCh38]
Chr19:54396012 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1281+135T>G single nucleotide variant not provided [RCV001643757] Chr19:53898763 [GRCh38]
Chr19:54402017 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.286-144C>G single nucleotide variant not provided [RCV001645461] Chr19:53889494 [GRCh38]
Chr19:54392748 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1282-14G>A single nucleotide variant Spinocerebellar ataxia type 14 [RCV001131455] Chr19:53900219 [GRCh38]
Chr19:54403473 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp) single nucleotide variant Cerebellar ataxia [RCV001543622]|not specified [RCV004526130] Chr19:53889938 [GRCh38]
Chr19:54393192 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NM_002739.5:c.530_919del deletion Spinocerebellar ataxia type 14 [RCV001199969] Chr19:19q13.42 pathogenic
NC_000019.10:g.(?_53873530)_(53893391_?)dup duplication not provided [RCV001032352] Chr19:54376784..54396645 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1904C>T (p.Pro635Leu) single nucleotide variant PRKCG-related disorder [RCV003953511]|Spinocerebellar ataxia type 14 [RCV001134435] Chr19:53906456 [GRCh38]
Chr19:54409710 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001175613] Chr19:53884184 [GRCh38]
Chr19:54387438 [GRCh37]
Chr19:19q13.42		 pathogenic|not provided
NM_002739.5(PRKCG):c.1382C>T (p.Ala461Val) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001196826]|not provided [RCV001091270] Chr19:53900427 [GRCh38]
Chr19:54403681 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.637C>A (p.Arg213=) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001128798] Chr19:53891781 [GRCh38]
Chr19:54395035 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.711G>T (p.Glu237Asp) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001128799] Chr19:53892533 [GRCh38]
Chr19:54395787 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.*415G>C single nucleotide variant Spinocerebellar ataxia type 14 [RCV001128905] Chr19:53907310 [GRCh38]
Chr19:54410564 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 copy number gain not provided [RCV001259948] Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
NM_002739.5(PRKCG):c.1764+1G>T single nucleotide variant not provided [RCV001663446] Chr19:53904743 [GRCh38]
Chr19:54407997 [GRCh37]
Chr19:19q13.42		 likely pathogenic|conflicting interpretations of pathogenicity
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001256678]|Spinocerebellar ataxia type 14 [RCV002464429] Chr19:53889699 [GRCh38]
Chr19:54392953 [GRCh37]
Chr19:19q13.42		 likely pathogenic|uncertain significance
NM_002739.5(PRKCG):c.1082G>A (p.Ser361Asn) single nucleotide variant not provided [RCV001268877] Chr19:53898101 [GRCh38]
Chr19:54401355 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1553C>T (p.Thr518Ile) single nucleotide variant not provided [RCV001288721] Chr19:53900727 [GRCh38]
Chr19:54403981 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_002739.5(PRKCG):c.1349G>A (p.Gly450Asp) single nucleotide variant not provided [RCV001663445] Chr19:53900300 [GRCh38]
Chr19:54403554 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.77G>A (p.Arg26Lys) single nucleotide variant not provided [RCV001350384] Chr19:53882571 [GRCh38]
Chr19:54385825 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.974C>T (p.Pro325Leu) single nucleotide variant not provided [RCV001288729] Chr19:53897993 [GRCh38]
Chr19:54401247 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys) single nucleotide variant Autosomal dominant cerebellar ataxia [RCV003994254]|Inborn genetic diseases [RCV002537978]|not specified [RCV001644975] Chr19:53900703 [GRCh38]
Chr19:54403957 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.1195G>C (p.Glu399Gln) single nucleotide variant not provided [RCV001288718] Chr19:53898542 [GRCh38]
Chr19:54401796 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.522C>T (p.His174=) single nucleotide variant not provided [RCV001288728] Chr19:53890010 [GRCh38]
Chr19:54393264 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp) single nucleotide variant Inborn genetic diseases [RCV002541793]|not provided [RCV001288722]|not specified [RCV004699272] Chr19:53904716 [GRCh38]
Chr19:54407970 [GRCh37]
Chr19:19q13.42		 likely benign|uncertain significance
NM_002739.5(PRKCG):c.362_379dup (p.Leu121_His126dup) duplication not provided [RCV001288725] Chr19:53889711..53889712 [GRCh38]
Chr19:54392965..54392966 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.401_402delinsTT (p.Cys134Phe) indel not provided [RCV001288727] Chr19:53889889..53889890 [GRCh38]
Chr19:54393143..54393144 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NC_000019.10:g.53880653_53880654insAAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACACAGAGAGATTCAGAGTCAGAGAAACATAGAGATTCATAGAGCCAGAGACA insertion not provided [RCV001358110] Chr19:53880584..53880585 [GRCh38]
Chr19:54383838..54383839 [GRCh37]
Chr19:19q13.42		 uncertain significance
NC_000019.9:g.(?_54297303)_(54410149_?)dup duplication Familial cold autoinflammatory syndrome 2 [RCV001296829] Chr19:54297303..54410149 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1210G>A (p.Ala404Thr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001328984] Chr19:53898557 [GRCh38]
Chr19:54401811 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.381G>T (p.Gln127His) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001542612] Chr19:53889733 [GRCh38]
Chr19:54392987 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1437-64T>C single nucleotide variant not provided [RCV001684190] Chr19:53900547 [GRCh38]
Chr19:54403801 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1657-279T>C single nucleotide variant not provided [RCV001643326] Chr19:53904356 [GRCh38]
Chr19:54407610 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647199] Chr19:53889710 [GRCh38]
Chr19:54392964 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001647232] Chr19:53889907 [GRCh38]
Chr19:54393161 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.821+145A>G single nucleotide variant not provided [RCV001616459] Chr19:53892788 [GRCh38]
Chr19:54396042 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1765-206_1765-192del deletion not provided [RCV001732706] Chr19:53906110..53906124 [GRCh38]
Chr19:54409364..54409378 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.940-180C>T single nucleotide variant not provided [RCV002255024] Chr19:53897779 [GRCh38]
Chr19:54401033 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.374T>A (p.Val125Glu) single nucleotide variant PRKCG-related disorder [RCV004754785]|not provided [RCV001766936] Chr19:53889726 [GRCh38]
Chr19:54392980 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.821+139_821+140del deletion not provided [RCV001786188] Chr19:53892781..53892782 [GRCh38]
Chr19:54396035..54396036 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.821+110_821+111insGCACACACAC insertion not provided [RCV001786225] Chr19:53892752..53892753 [GRCh38]
Chr19:54396006..54396007 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1093-92G>C single nucleotide variant not provided [RCV001787635] Chr19:53898348 [GRCh38]
Chr19:54401602 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1201C>T (p.Arg401Cys) single nucleotide variant Inborn genetic diseases [RCV003355538]|not provided [RCV001773245] Chr19:53898548 [GRCh38]
Chr19:54401802 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.341_356del (p.Cys114fs) deletion not provided [RCV001765899] Chr19:53889693..53889708 [GRCh38]
Chr19:54392947..54392962 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1765-214del deletion not provided [RCV001733076] Chr19:53906103 [GRCh38]
Chr19:54409357 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1092+129C>T single nucleotide variant not provided [RCV001787628] Chr19:53898240 [GRCh38]
Chr19:54401494 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.821+109G>A single nucleotide variant not provided [RCV001779573] Chr19:53892752 [GRCh38]
Chr19:54396006 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.686+300C>G single nucleotide variant Spinocerebellar ataxia type 14 [RCV001809071] Chr19:53892130 [GRCh38]
Chr19:54395384 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001809070]|not provided [RCV004571108] Chr19:53884178 [GRCh38]
Chr19:54387432 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.822-34C>T single nucleotide variant not provided [RCV001822019] Chr19:53892954 [GRCh38]
Chr19:54396208 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1765-59G>A single nucleotide variant not provided [RCV001806598] Chr19:53906258 [GRCh38]
Chr19:54409512 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.107A>G (p.His36Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV001849199] Chr19:53882601 [GRCh38]
Chr19:54385855 [GRCh37]
Chr19:19q13.42		 pathogenic
NM_002739.5(PRKCG):c.155G>T (p.Cys52Phe) single nucleotide variant not provided [RCV001823359] Chr19:53882649 [GRCh38]
Chr19:54385903 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.939+94A>G single nucleotide variant not provided [RCV001837640] Chr19:53893485 [GRCh38]
Chr19:54396739 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.821+110CA[13] microsatellite not provided [RCV001843612] Chr19:53892753..53892754 [GRCh38]
Chr19:54396007..54396008 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1576-116G>C single nucleotide variant not provided [RCV001837641] Chr19:53902957 [GRCh38]
Chr19:54406211 [GRCh37]
Chr19:19q13.42		 likely benign
NC_000019.9:g.(?_54297303)_(55678016_?)dup duplication not provided [RCV001981426] Chr19:54297303..55678016 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1900C>T (p.Arg634Cys) single nucleotide variant Spinocerebellar ataxia type 14 [RCV002086738] Chr19:53906452 [GRCh38]
Chr19:54409706 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1712C>G (p.Thr571Ser) single nucleotide variant Spinocerebellar ataxia type 14 [RCV003148064] Chr19:53904690 [GRCh38]
Chr19:54407944 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1397T>C (p.Ile466Thr) single nucleotide variant not provided [RCV002254117] Chr19:53900442 [GRCh38]
Chr19:54403696 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1823T>C (p.Ile608Thr) single nucleotide variant not provided [RCV003129014] Chr19:53906375 [GRCh38]
Chr19:54409629 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1913G>A (p.Arg638His) single nucleotide variant See cases [RCV002252445] Chr19:53906714 [GRCh38]
Chr19:54409968 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1693C>G (p.Gln565Glu) single nucleotide variant not provided [RCV003156688] Chr19:53904671 [GRCh38]
Chr19:54407925 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.475G>C (p.Gly159Arg) single nucleotide variant not provided [RCV002288128] Chr19:53889963 [GRCh38]
Chr19:54393217 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.223C>T (p.Arg75Ter) single nucleotide variant not provided [RCV002276311] Chr19:53884181 [GRCh38]
Chr19:54387435 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.256C>G (p.Pro86Ala) single nucleotide variant not provided [RCV002269615] Chr19:53884214 [GRCh38]
Chr19:54387468 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.556A>G (p.Met186Val) single nucleotide variant not provided [RCV002265439] Chr19:53891700 [GRCh38]
Chr19:54394954 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.821+109_821+110del microsatellite not provided [RCV002281526] Chr19:53892750..53892751 [GRCh38]
Chr19:54396004..54396005 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1790G>A (p.Arg597His) single nucleotide variant not provided [RCV002283096] Chr19:53906342 [GRCh38]
Chr19:54409596 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1905+5G>A single nucleotide variant not provided [RCV002283072] Chr19:53906462 [GRCh38]
Chr19:54409716 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1571C>G (p.Pro524Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV002283737] Chr19:53900745 [GRCh38]
Chr19:54403999 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.895C>A (p.Leu299Ile) single nucleotide variant not provided [RCV002283113] Chr19:53893061 [GRCh38]
Chr19:54396315 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.114C>T (p.Phe38=) single nucleotide variant not provided [RCV002474268] Chr19:53882608 [GRCh38]
Chr19:54385862 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.713G>A (p.Arg238His) single nucleotide variant not provided [RCV002474269] Chr19:53892535 [GRCh38]
Chr19:54395789 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.154T>C (p.Cys52Arg) single nucleotide variant not provided [RCV002300829] Chr19:53882648 [GRCh38]
Chr19:54385902 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1918G>T (p.Gly640Cys) single nucleotide variant Inborn genetic diseases [RCV002859447] Chr19:53906719 [GRCh38]
Chr19:54409973 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.143T>C (p.Phe48Ser) single nucleotide variant not provided [RCV002475518] Chr19:53882637 [GRCh38]
Chr19:54385891 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.881A>T (p.Asp294Val) single nucleotide variant not provided [RCV002475519] Chr19:53893047 [GRCh38]
Chr19:54396301 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.99C>G (p.Val33=) single nucleotide variant not provided [RCV002475520] Chr19:53882593 [GRCh38]
Chr19:54385847 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.628C>G (p.Gln210Glu) single nucleotide variant Inborn genetic diseases [RCV002839635] Chr19:53891772 [GRCh38]
Chr19:54395026 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1290G>A (p.Leu430=) single nucleotide variant not provided [RCV002475521] Chr19:53900241 [GRCh38]
Chr19:54403495 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1765-197_1765-196insC insertion not provided [RCV003036970] Chr19:53906120..53906121 [GRCh38]
Chr19:54409374..54409375 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.566A>G (p.Asn189Ser) single nucleotide variant not provided [RCV003036960] Chr19:53891710 [GRCh38]
Chr19:54394964 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1214T>G (p.Leu405Arg) single nucleotide variant Inborn genetic diseases [RCV002787258] Chr19:53898561 [GRCh38]
Chr19:54401815 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.976TCCCCT[3] (p.Pro331_Thr332insSerPro) microsatellite not provided [RCV002508433] Chr19:53897994..53897995 [GRCh38]
Chr19:54401248..54401249 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1976G>A (p.Arg659His) single nucleotide variant Inborn genetic diseases [RCV002763245] Chr19:53906777 [GRCh38]
Chr19:54410031 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.335C>T (p.Thr112Ile) single nucleotide variant Inborn genetic diseases [RCV002836445] Chr19:53889687 [GRCh38]
Chr19:54392941 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1654C>G (p.Gln552Glu) single nucleotide variant Inborn genetic diseases [RCV002898175] Chr19:53903151 [GRCh38]
Chr19:54406405 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.812T>C (p.Val271Ala) single nucleotide variant Inborn genetic diseases [RCV002939918] Chr19:53892634 [GRCh38]
Chr19:54395888 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.687-6C>T single nucleotide variant not specified [RCV003155834] Chr19:53892503 [GRCh38]
Chr19:54395757 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.41G>A (p.Gly14Glu) single nucleotide variant Inborn genetic diseases [RCV003217210] Chr19:53882535 [GRCh38]
Chr19:54385789 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1034G>T (p.Arg345Leu) single nucleotide variant Inborn genetic diseases [RCV003210562] Chr19:53898053 [GRCh38]
Chr19:54401307 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.202G>A (p.Val68Ile) single nucleotide variant not provided [RCV003319737] Chr19:53883194 [GRCh38]
Chr19:54386448 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.331C>G (p.Pro111Ala) single nucleotide variant not provided [RCV003327762] Chr19:53889683 [GRCh38]
Chr19:54392937 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.760G>A (p.Asp254Asn) single nucleotide variant not provided [RCV003328943] Chr19:53892582 [GRCh38]
Chr19:54395836 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.-192_-178del deletion not provided [RCV003328962] Chr19:53882303..53882317 [GRCh38]
Chr19:54385557..54385571 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1810G>A (p.Gly604Arg) single nucleotide variant not provided [RCV003329920] Chr19:53906362 [GRCh38]
Chr19:54409616 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val) single nucleotide variant Autosomal recessive spinocerebellar ataxia 14 [RCV003337842] Chr19:53900625 [GRCh38]
Chr19:54403879 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.2081T>C (p.Val694Ala) single nucleotide variant Inborn genetic diseases [RCV003377312] Chr19:53906882 [GRCh38]
Chr19:54410136 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro) indel not provided [RCV003482838] Chr19:53882564..53882566 [GRCh38]
Chr19:54385818..54385820 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp) single nucleotide variant not provided [RCV003482839] Chr19:53882502 [GRCh38]
Chr19:54385756 [GRCh37]
Chr19:19q13.42		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
GRCh37/hg19 19q13.42(chr19:53963333-54421591)x3 copy number gain not provided [RCV003485201] Chr19:53963333..54421591 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.425G>A (p.Cys142Tyr) single nucleotide variant not provided [RCV003482837] Chr19:53889913 [GRCh38]
Chr19:54393167 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.2020A>T (p.Thr674Ser) single nucleotide variant PRKCG-related disorder [RCV003400049] Chr19:53906821 [GRCh38]
Chr19:54410075 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.641C>T (p.Thr214Met) single nucleotide variant not provided [RCV003443247] Chr19:53891785 [GRCh38]
Chr19:54395039 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.237A>T (p.Glu79Asp) single nucleotide variant PRKCG-related disorder [RCV003397864] Chr19:53884195 [GRCh38]
Chr19:54387449 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.*432G>A single nucleotide variant not provided [RCV003407101] Chr19:53907327 [GRCh38]
Chr19:54410581 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1282-6C>T single nucleotide variant not provided [RCV003415408] Chr19:53900227 [GRCh38]
Chr19:54403481 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1403T>C (p.Leu468Pro) single nucleotide variant not provided [RCV003441212] Chr19:53900448 [GRCh38]
Chr19:54403702 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.-12G>T single nucleotide variant not specified [RCV003489558] Chr19:53882483 [GRCh38]
Chr19:54385737 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.585T>C (p.Tyr195=) single nucleotide variant not provided [RCV003993174] Chr19:53891729 [GRCh38]
Chr19:54394983 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.47G>A (p.Arg16Gln) single nucleotide variant Inborn genetic diseases [RCV004515148] Chr19:53882541 [GRCh38]
Chr19:54385795 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.879T>C (p.Ala293=) single nucleotide variant PRKCG-related disorder [RCV003901587] Chr19:53893045 [GRCh38]
Chr19:54396299 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.994A>C (p.Thr332Pro) single nucleotide variant Inborn genetic diseases [RCV004515149] Chr19:53898013 [GRCh38]
Chr19:54401267 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1063A>G (p.Met355Val) single nucleotide variant Inborn genetic diseases [RCV004515147] Chr19:53898082 [GRCh38]
Chr19:54401336 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.170+9A>T single nucleotide variant PRKCG-related disorder [RCV003919695] Chr19:53882673 [GRCh38]
Chr19:54385927 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.811G>T (p.Val271Leu) single nucleotide variant PRKCG-related disorder [RCV003924538] Chr19:53892633 [GRCh38]
Chr19:54395887 [GRCh37]
Chr19:19q13.42		 benign
NM_002739.5(PRKCG):c.1818T>A (p.Pro606=) single nucleotide variant PRKCG-related disorder [RCV003907014] Chr19:53906370 [GRCh38]
Chr19:54409624 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.1572G>A (p.Pro524=) single nucleotide variant not specified [RCV003995053] Chr19:53900746 [GRCh38]
Chr19:54404000 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.867G>A (p.Pro289=) single nucleotide variant not specified [RCV004587660] Chr19:53893033 [GRCh38]
Chr19:54396287 [GRCh37]
Chr19:19q13.42		 likely benign
NM_002739.5(PRKCG):c.506C>G (p.Thr169Arg) single nucleotide variant Inborn genetic diseases [RCV004648657] Chr19:53889994 [GRCh38]
Chr19:54393248 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.187G>C (p.Gly63Arg) single nucleotide variant Spinocerebellar ataxia type 14 [RCV004767588] Chr19:53883179 [GRCh38]
Chr19:54386433 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1900C>G (p.Arg634Gly) single nucleotide variant not provided [RCV004725976] Chr19:53906452 [GRCh38]
Chr19:54409706 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1004A>T (p.Lys335Met) single nucleotide variant not provided [RCV004726152] Chr19:53898023 [GRCh38]
Chr19:54401277 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1880T>G (p.Ile627Ser) single nucleotide variant not provided [RCV004729295] Chr19:53906432 [GRCh38]
Chr19:54409686 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.457G>C (p.Asp153His) single nucleotide variant Spinocerebellar ataxia type 14 [RCV004767589] Chr19:53889945 [GRCh38]
Chr19:54393199 [GRCh37]
Chr19:19q13.42		 likely pathogenic
NM_002739.5(PRKCG):c.1154A>G (p.Asp385Gly) single nucleotide variant not provided [RCV004770583] Chr19:53898501 [GRCh38]
Chr19:54401755 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.191T>C (p.Leu64Pro) single nucleotide variant not provided [RCV004770988] Chr19:53883183 [GRCh38]
Chr19:54386437 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.1498G>A (p.Gly500Ser) single nucleotide variant not provided [RCV004771106] Chr19:53900672 [GRCh38]
Chr19:54403926 [GRCh37]
Chr19:19q13.42		 uncertain significance
NM_002739.5(PRKCG):c.42dup (p.Pro15fs) duplication not provided [RCV004769182] Chr19:53882535..53882536 [GRCh38]
Chr19:54385789..54385790 [GRCh37]
Chr19:19q13.42		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2331
Count of miRNA genes:863
Interacting mature miRNAs:1029
Transcripts:ENST00000263431, ENST00000419486, ENST00000474397, ENST00000479081, ENST00000536044, ENST00000540413, ENST00000542049
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1559110SCL22_HSerum cholesterol level QTL 22 (human)3.590.000241Lipid levelLDL cholesterol193190759457907594Human
1331657COPD9_HChronic obstructive pulmonary disease QTL 9 (human)1.94Chronic airflow obstructionpost-bronchodilator FEV1193102176057021760Human

Markers in Region
D19S206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371952,551,347 - 52,551,471UniSTSGRCh37
Build 361957,243,159 - 57,243,283RGDNCBI36
Celera1949,600,905 - 49,601,029RGD
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1948,881,991 - 48,882,127UniSTS
Marshfield Genetic Map1985.04UniSTS
Marshfield Genetic Map1985.04RGD
D19S926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371955,488,836 - 55,488,936UniSTSGRCh37
Build 361960,180,648 - 60,180,748RGDNCBI36
Celera1952,528,336 - 52,528,436RGD
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19q13.42UniSTS
HuRef1951,810,830 - 51,810,936UniSTS
Marshfield Genetic Map1994.56UniSTS
Marshfield Genetic Map1994.56RGD
Genethon Genetic Map1999.6UniSTS
D19S605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371955,751,836 - 55,751,952UniSTSGRCh37
GRCh37999,835,044 - 99,835,606UniSTSGRCh37
Build 361960,443,648 - 60,443,764RGDNCBI36
Celera970,349,322 - 70,349,884UniSTS
Celera1952,793,357 - 52,793,473RGD
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.4UniSTS
HuRef1952,075,208 - 52,075,324UniSTS
Marshfield Genetic Map1995.26UniSTS
Marshfield Genetic Map1995.26RGD
Genethon Genetic Map1999.6UniSTS
deCODE Assembly Map19104.74UniSTS
ECD03680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,409,557 - 54,410,344UniSTSGRCh37
Build 361959,101,369 - 59,102,156RGDNCBI36
Celera1951,450,594 - 51,451,381RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,728,798 - 50,729,731UniSTS
ECD04606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,410,416 - 54,411,175UniSTSGRCh37
Build 361959,102,228 - 59,102,987RGDNCBI36
Celera1951,451,453 - 51,452,212RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,729,803 - 50,730,562UniSTS
ECD05203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,386,376 - 54,387,118UniSTSGRCh37
Build 361959,078,188 - 59,078,930RGDNCBI36
Celera1951,427,417 - 51,428,159RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,705,569 - 50,706,311UniSTS
ECD07128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,392,797 - 54,393,487UniSTSGRCh37
Build 361959,084,609 - 59,085,299RGDNCBI36
Celera1951,433,835 - 51,434,525RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,712,108 - 50,712,798UniSTS
ECD08906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,401,314 - 54,401,956UniSTSGRCh37
Build 361959,093,126 - 59,093,768RGDNCBI36
Celera1951,442,349 - 51,442,991RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,720,612 - 50,721,254UniSTS
ECD09146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,403,877 - 54,404,513UniSTSGRCh37
Build 361959,095,689 - 59,096,325RGDNCBI36
Celera1951,444,913 - 51,445,549RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,723,177 - 50,723,813UniSTS
ECD09274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,403,164 - 54,403,797UniSTSGRCh37
Build 361959,094,976 - 59,095,609RGDNCBI36
Celera1951,444,200 - 51,444,833RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,722,464 - 50,723,097UniSTS
ECD11375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,402,211 - 54,402,785UniSTSGRCh37
Build 361959,094,023 - 59,094,597RGDNCBI36
Celera1951,443,247 - 51,443,821RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,721,511 - 50,722,085UniSTS
ECD12883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,387,303 - 54,387,835UniSTSGRCh37
Build 361959,079,115 - 59,079,647RGDNCBI36
Celera1951,428,344 - 51,428,876RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,706,496 - 50,707,028UniSTS
ECD13624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,407,536 - 54,408,049UniSTSGRCh37
Build 361959,099,348 - 59,099,861RGDNCBI36
Celera1951,448,572 - 51,449,085RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,726,836 - 50,727,349UniSTS
ECD13740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,396,171 - 54,396,681UniSTSGRCh37
Build 361959,087,983 - 59,088,493RGDNCBI36
Celera1951,437,209 - 51,437,719RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,715,482 - 50,715,992UniSTS
ECD15193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,384,992 - 54,385,468UniSTSGRCh37
Build 361959,076,804 - 59,077,280RGDNCBI36
Celera1951,426,033 - 51,426,509RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,704,185 - 50,704,661UniSTS
ECD15565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,385,518 - 54,385,985UniSTSGRCh37
Build 361959,077,330 - 59,077,797RGDNCBI36
Celera1951,426,559 - 51,427,026RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,704,711 - 50,705,178UniSTS
ECD16403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,394,876 - 54,395,318UniSTSGRCh37
Build 361959,086,688 - 59,087,130RGDNCBI36
Celera1951,435,914 - 51,436,356RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,714,187 - 50,714,629UniSTS
ECD17263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,395,590 - 54,395,996UniSTSGRCh37
Build 361959,087,402 - 59,087,808RGDNCBI36
Celera1951,436,628 - 51,437,034RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,714,901 - 50,715,307UniSTS
ECD18784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,406,197 - 54,406,544UniSTSGRCh37
Build 361959,098,009 - 59,098,356RGDNCBI36
Celera1951,447,233 - 51,447,580RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,725,497 - 50,725,844UniSTS
ECD21216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,388,914 - 54,389,171UniSTSGRCh37
Build 361959,080,726 - 59,080,983RGDNCBI36
Celera1951,429,955 - 51,430,212RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,708,107 - 50,708,364UniSTS
ECD21287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,391,447 - 54,391,701UniSTSGRCh37
Build 361959,083,259 - 59,083,513RGDNCBI36
Celera1951,432,485 - 51,432,739RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,710,758 - 50,711,012UniSTS
ECD21380  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,391,870 - 54,392,121UniSTSGRCh37
Build 361959,083,682 - 59,083,933RGDNCBI36
Celera1951,432,908 - 51,433,159RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,711,181 - 50,711,432UniSTS
ECD21699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,408,426 - 54,408,668UniSTSGRCh37
Build 361959,100,238 - 59,100,480RGDNCBI36
Celera1951,449,462 - 51,449,706RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,727,726 - 50,727,970UniSTS
ECD22364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,394,306 - 54,394,527UniSTSGRCh37
Build 361959,086,118 - 59,086,339RGDNCBI36
Celera1951,435,344 - 51,435,565RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,713,617 - 50,713,838UniSTS
ECD23287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,399,345 - 54,399,538UniSTSGRCh37
Build 361959,091,157 - 59,091,350RGDNCBI36
Celera1951,440,383 - 51,440,576RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,718,656 - 50,718,849UniSTS
ECD23376  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,388,074 - 54,388,265UniSTSGRCh37
Build 361959,079,886 - 59,080,077RGDNCBI36
Celera1951,429,115 - 51,429,306RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,707,267 - 50,707,458UniSTS
ECD23790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,401,038 - 54,401,214UniSTSGRCh37
Build 361959,092,850 - 59,093,026RGDNCBI36
Celera1951,442,073 - 51,442,249RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,720,336 - 50,720,512UniSTS
stSG605621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,388,079 - 54,389,079UniSTSGRCh37
Build 361959,079,891 - 59,080,891RGDNCBI36
Celera1951,429,120 - 51,430,120RGD
HuRef1950,707,272 - 50,708,272UniSTS
stSG605622  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,389,136 - 54,390,310UniSTSGRCh37
Build 361959,080,948 - 59,082,122RGDNCBI36
Celera1951,430,177 - 51,431,351RGD
stSG605623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,390,291 - 54,391,349UniSTSGRCh37
Build 361959,082,103 - 59,083,161RGDNCBI36
Celera1951,431,332 - 51,432,387RGD
stSG605624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,391,330 - 54,392,816UniSTSGRCh37
Build 361959,083,142 - 59,084,628RGDNCBI36
Celera1951,432,368 - 51,433,854RGD
HuRef1950,710,641 - 50,712,127UniSTS
stSG605627  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,394,434 - 54,395,435UniSTSGRCh37
Build 361959,086,246 - 59,087,247RGDNCBI36
Celera1951,435,472 - 51,436,473RGD
HuRef1950,713,745 - 50,714,746UniSTS
stSG605628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,395,416 - 54,396,528UniSTSGRCh37
Build 361959,087,228 - 59,088,340RGDNCBI36
Celera1951,436,454 - 51,437,566RGD
HuRef1950,714,727 - 50,715,839UniSTS
stSG605630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,397,667 - 54,398,053UniSTSGRCh37
Build 361959,089,479 - 59,089,865RGDNCBI36
Celera1951,438,705 - 51,439,091RGD
HuRef1950,716,978 - 50,717,364UniSTS
stSG605633  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,400,631 - 54,401,956UniSTSGRCh37
Build 361959,092,443 - 59,093,768RGDNCBI36
Celera1951,441,666 - 51,442,991RGD
HuRef1950,719,929 - 50,721,254UniSTS
stSG605635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,403,279 - 54,404,423UniSTSGRCh37
Build 361959,095,091 - 59,096,235RGDNCBI36
Celera1951,444,315 - 51,445,459RGD
HuRef1950,722,579 - 50,723,723UniSTS
stSG605636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,404,494 - 54,405,756UniSTSGRCh37
Build 361959,096,306 - 59,097,568RGDNCBI36
Celera1951,445,530 - 51,446,792RGD
HuRef1950,723,794 - 50,725,056UniSTS
stSG605637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,405,748 - 54,406,799UniSTSGRCh37
Build 361959,097,560 - 59,098,611RGDNCBI36
Celera1951,446,784 - 51,447,835RGD
HuRef1950,725,048 - 50,726,099UniSTS
stSG605639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,408,177 - 54,409,495UniSTSGRCh37
Build 361959,099,989 - 59,101,307RGDNCBI36
Celera1951,449,213 - 51,450,532RGD
HuRef1950,727,477 - 50,728,736UniSTS
stSG605640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,409,485 - 54,410,690UniSTSGRCh37
Build 361959,101,297 - 59,102,502RGDNCBI36
Celera1951,450,522 - 51,451,727RGD
HuRef1950,728,726 - 50,730,077UniSTS
PRKCG_2490.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,410,320 - 54,410,924UniSTSGRCh37
Build 361959,102,132 - 59,102,736RGDNCBI36
Celera1951,451,357 - 51,451,961RGD
HuRef1950,729,707 - 50,730,311UniSTS
WI-20598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,410,578 - 54,410,835UniSTSGRCh37
Build 361959,102,390 - 59,102,647RGDNCBI36
Celera1951,451,615 - 51,451,872RGD
Cytogenetic Map19q13.4UniSTS
HuRef1950,729,965 - 50,730,222UniSTS
GeneMap99-GB4 RH Map19306.04UniSTS
Whitehead-RH Map19384.6UniSTS
PRKCG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371954,394,938 - 54,395,070UniSTSGRCh37
Build 361959,086,750 - 59,086,882RGDNCBI36
Celera1951,435,976 - 51,436,108RGD
HuRef1950,714,249 - 50,714,381UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1103 2371 2350 2040 4684 1344 1915 1 388 1404 233 2005 5755 5490 46 3631 601 1641 1435 166 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001316329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF345987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI757265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z15114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000263431   ⟹   ENSP00000263431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,197 - 53,907,652 (+)Ensembl
Ensembl Acc Id: ENST00000419486   ⟹   ENSP00000387919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,229 - 53,889,979 (+)Ensembl
Ensembl Acc Id: ENST00000474397   ⟹   ENSP00000471271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,881,784 - 53,891,827 (+)Ensembl
Ensembl Acc Id: ENST00000479081   ⟹   ENSP00000471544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,879,190 - 53,889,930 (+)Ensembl
Ensembl Acc Id: ENST00000682028   ⟹   ENSP00000507230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,189 - 53,907,594 (+)Ensembl
Ensembl Acc Id: ENST00000682268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,197 - 53,903,441 (+)Ensembl
Ensembl Acc Id: ENST00000682676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,894,626 - 53,907,646 (+)Ensembl
Ensembl Acc Id: ENST00000682902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,193 - 53,904,878 (+)Ensembl
Ensembl Acc Id: ENST00000683513   ⟹   ENSP00000506809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1953,882,197 - 53,906,915 (+)Ensembl
RefSeq Acc Id: NM_001316329   ⟹   NP_001303258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381953,882,197 - 53,907,652 (+)NCBI
CHM1_11954,386,644 - 54,412,682 (+)NCBI
T2T-CHM13v2.01956,961,902 - 56,987,358 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002739   ⟹   NP_002730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381953,882,197 - 53,907,652 (+)NCBI
GRCh371954,385,467 - 54,410,906 (+)NCBI
Build 361959,077,279 - 59,102,713 (+)NCBI Archive
HuRef1950,704,660 - 50,730,288 (+)ENTREZGENE
CHM1_11954,386,644 - 54,412,682 (+)NCBI
T2T-CHM13v2.01956,961,902 - 56,987,358 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439092   ⟹   XP_047295048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381953,881,094 - 53,907,652 (+)NCBI
RefSeq Acc Id: XM_054321438   ⟹   XP_054177413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01956,960,799 - 56,987,358 (+)NCBI
RefSeq Acc Id: NP_002730   ⟸   NM_002739
- Peptide Label: isoform 2
- UniProtKB: B7Z8Q0 (UniProtKB/Swiss-Prot),   P05129 (UniProtKB/Swiss-Prot),   B2R5T1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001303258   ⟸   NM_001316329
- Peptide Label: isoform 1
- UniProtKB: B7Z3W6 (UniProtKB/TrEMBL),   A0A804HIU5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000471544   ⟸   ENST00000479081
Ensembl Acc Id: ENSP00000387919   ⟸   ENST00000419486
Ensembl Acc Id: ENSP00000263431   ⟸   ENST00000263431
Ensembl Acc Id: ENSP00000471271   ⟸   ENST00000474397
Ensembl Acc Id: ENSP00000506809   ⟸   ENST00000683513
Ensembl Acc Id: ENSP00000507230   ⟸   ENST00000682028
RefSeq Acc Id: XP_047295048   ⟸   XM_047439092
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054177413   ⟸   XM_054321438
- Peptide Label: isoform X1
Protein Domains
AGC-kinase C-terminal   C2   Phorbol-ester/DAG-type   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05129-F1-model_v2 AlphaFold P05129 1-697 view protein structure

Promoters
RGD ID:13205545
Promoter ID:EPDNEW_H26353
Type:initiation region
Name:PRKCG_1
Description:protein kinase C gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381953,882,199 - 53,882,259EPDNEW
RGD ID:6795937
Promoter ID:HG_KWN:30891
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313714
Position:
Human AssemblyChrPosition (strand)Source
Build 361959,074,241 - 59,074,741 (+)MPROMDB
RGD ID:6814653
Promoter ID:HG_XEF:4251
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001168870
Position:
Human AssemblyChrPosition (strand)Source
Build 361959,084,686 - 59,085,186 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9402 AgrOrtholog
COSMIC PRKCG COSMIC
Ensembl Genes ENSG00000126583 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000263431 ENTREZGENE
  ENST00000263431.4 UniProtKB/Swiss-Prot
  ENST00000419486.1 UniProtKB/TrEMBL
  ENST00000474397.5 UniProtKB/TrEMBL
  ENST00000479081.5 UniProtKB/TrEMBL
  ENST00000682028 ENTREZGENE
  ENST00000682028.1 UniProtKB/TrEMBL
  ENST00000683513.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126583 GTEx
HGNC ID HGNC:9402 ENTREZGENE
Human Proteome Map PRKCG Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAG/PE-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_C_a/b/g UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rabphilin/DOC2/Noc2 UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5582 UniProtKB/Swiss-Prot
NCBI Gene 5582 ENTREZGENE
OMIM 176980 OMIM
PANTHER PROTEIN KINASE C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN KINASE C, MU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RABPHILIN, ISOFORM A UniProtKB/TrEMBL
  RABPHILIN-1 UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33766 PharmGKB
PIRSF PKC_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGPEDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE AGC_KINASE_CTER 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
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HHY0_HUMAN UniProtKB/TrEMBL
  A0A804HIU5 ENTREZGENE, UniProtKB/TrEMBL
  B2R5T1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z3W6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8Q0 ENTREZGENE
  H7BZ60_HUMAN UniProtKB/TrEMBL
  KPCG_HUMAN UniProtKB/Swiss-Prot
  M0R0I9_HUMAN UniProtKB/TrEMBL
  M0R0Z4_HUMAN UniProtKB/TrEMBL
  P05129 ENTREZGENE
UniProt Secondary B7Z8Q0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 PRKCG  protein kinase C gamma  PRKCG  protein kinase C, gamma  Symbol and/or name change 5135510 APPROVED