GRK1 (G protein-coupled receptor kinase 1) - Rat Genome Database

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Gene: GRK1 (G protein-coupled receptor kinase 1) Homo sapiens
Analyze
Symbol: GRK1
Name: G protein-coupled receptor kinase 1
RGD ID: 1345543
HGNC Page HGNC:10013
Description: Enables rhodopsin kinase activity. Involved in protein autophosphorylation and regulation of opsin-mediated signaling pathway. Located in cytoplasm. Implicated in Oguchi disease-2 and night blindness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GPRK1; rhodopsin kinase; rhodopsin kinase GRK1; RHOK; RK
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
NCBI Annotation Information: Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5' end of this gene was annotated on NT_027140.7 and the 3' end was annotated on NT_024498.13 in NCBI s Homo sapiens Annotation Release 106. [17 Jun 2014]; Annotation category: suggests misassembly
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,648,199 - 113,737,736 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,667,219 - 113,737,736 (+)EnsemblGRCh38hg38GRCh38
GRCh3713114,321,534 - 114,440,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613113,369,595 - 113,373,975 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413113,369,597 - 113,373,973NCBI
Celera1395,148,890 - 95,166,521 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,993,393 - 94,997,833 (-)NCBIHuRef
HuRef1394,760,843 - 94,763,381 (+)NCBIHuRef
CHM1_113114,395,320 - 114,407,284 (+)NCBICHM1_1
CHM1_113114,290,923 - 114,295,255 (+)NCBICHM1_1
T2T-CHM13v2.013112,903,498 - 112,947,029 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. G protein-coupled receptor kinases: more than just kinases and not only for GPCRs. Gurevich EV, etal., Pharmacol Ther. 2012 Jan;133(1):40-69. Epub 2011 Aug 26.
3. The rho/rho-kinase pathway is involved in the progression of testicular germ cell tumour. Kamai T, etal., BJU Int. 2002 Mar;89(4):449-53.
4. Changes in rhodopsin kinase and transducin in the rat retina in early-stage diabetes. Kim YH, etal., Exp Eye Res. 2005 Jun;80(6):753-60.
5. Ventricular hypertrophy plus neurohumoral activation is necessary to alter the cardiac beta-adrenoceptor system in experimental heart failure. Leineweber K, etal., Circ Res. 2002 Nov 29;91(11):1056-62.
6. Low expression of alphaA-crystallins and rhodopsin kinase of photoreceptors in retinal dystrophy rat. Maeda A, etal., Invest Ophthalmol Vis Sci. 1999 Nov;40(12):2788-94.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Effects of a Rho kinase inhibitor on pressure overload induced cardiac hypertrophy and associated diastolic dysfunction. Phrommintikul A, etal., Am J Physiol Heart Circ Physiol. 2008 Apr;294(4):H1804-14. Epub 2008 Feb 1.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG 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. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Yamamoto S, etal., Nat Genet. 1997 Feb;15(2):175-8.
Additional References at PubMed
PMID:1527025   PMID:1656454   PMID:8617805   PMID:8672451   PMID:8812493   PMID:8889548   PMID:9099669   PMID:9147475   PMID:9268593   PMID:9419375   PMID:9478965   PMID:9501174  
PMID:9753452   PMID:10085129   PMID:10852916   PMID:11394879   PMID:11498053   PMID:11717351   PMID:11910029   PMID:12477932   PMID:12939331   PMID:15057823   PMID:15946941   PMID:16319817  
PMID:16407241   PMID:16473576   PMID:16478881   PMID:17070587   PMID:17524610   PMID:17765441   PMID:18266817   PMID:19753316   PMID:21873635   PMID:21922265   PMID:22183412   PMID:22623531  
PMID:22959359   PMID:24670923   PMID:25852190   PMID:25979333   PMID:26349155   PMID:26350504   PMID:27511724   PMID:28511019   PMID:32146548   PMID:33252155   PMID:34528284   PMID:34830487  
PMID:34857952   PMID:35013218  


Genomics

Comparative Map Data
GRK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3813113,648,199 - 113,737,736 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl13113,667,219 - 113,737,736 (+)EnsemblGRCh38hg38GRCh38
GRCh3713114,321,534 - 114,440,709 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3613113,369,595 - 113,373,975 (+)NCBINCBI36Build 36hg18NCBI36
Build 3413113,369,597 - 113,373,973NCBI
Celera1395,148,890 - 95,166,521 (+)NCBICelera
Cytogenetic Map13q34NCBI
HuRef1394,993,393 - 94,997,833 (-)NCBIHuRef
HuRef1394,760,843 - 94,763,381 (+)NCBIHuRef
CHM1_113114,395,320 - 114,407,284 (+)NCBICHM1_1
CHM1_113114,290,923 - 114,295,255 (+)NCBICHM1_1
T2T-CHM13v2.013112,903,498 - 112,947,029 (+)NCBIT2T-CHM13v2.0
Grk1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39813,455,081 - 13,471,951 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl813,455,081 - 13,471,951 (+)EnsemblGRCm39 Ensembl
GRCm38813,405,081 - 13,421,951 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl813,405,081 - 13,421,951 (+)EnsemblGRCm38mm10GRCm38
MGSCv37813,405,081 - 13,421,951 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36813,405,058 - 13,417,557 (+)NCBIMGSCv36mm8
Celera813,573,519 - 13,590,102 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map85.93NCBI
Grk1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81682,821,184 - 82,837,971 (-)NCBIGRCr8
mRatBN7.21676,122,501 - 76,135,792 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1676,123,842 - 76,135,792 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1681,404,428 - 81,416,381 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01684,857,390 - 84,869,343 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01680,106,227 - 80,118,183 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01681,153,489 - 81,165,442 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1681,153,489 - 81,165,442 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01680,641,991 - 80,657,693 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41680,979,323 - 80,991,796 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11680,979,589 - 80,992,061 (-)NCBI
Celera1673,931,302 - 73,943,259 (-)NCBICelera
Cytogenetic Map16q12.5NCBI
Grk1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955404343,009 - 353,683 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955404343,009 - 353,683 (-)NCBIChiLan1.0ChiLan1.0
GRK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v214115,179,766 - 115,204,613 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan113113,871,114 - 113,897,632 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01394,816,045 - 94,838,509 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.113113,867,002 - 113,885,610 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl13113,867,002 - 113,885,610 (+)Ensemblpanpan1.1panPan2
GRK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12260,911,953 - 60,929,330 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2260,911,953 - 60,926,146 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2260,622,827 - 60,638,762 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02261,596,581 - 61,612,683 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2261,596,581 - 61,609,597 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12261,035,074 - 61,051,125 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02261,037,157 - 61,053,062 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02261,068,208 - 61,084,263 (+)NCBIUU_Cfam_GSD_1.0
Grk1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945195,787,031 - 195,800,023 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936472151,854 - 165,281 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936472152,202 - 165,134 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1178,793,777 - 78,804,262 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11178,793,670 - 78,803,291 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21186,527,109 - 86,537,944 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1391,633,902 - 91,655,989 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl391,636,813 - 91,653,521 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604648,723,661 - 48,741,396 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grk1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624793453,125 - 462,053 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624793453,125 - 462,053 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRK1
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002929.3(GRK1):c.1069+3317_1195-753del deletion Oguchi disease-2 [RCV000013883] Chr13:113726472..113732129 [GRCh38]
Chr13:114429445..114435102 [GRCh37]
Chr13:13q34		 pathogenic
GRK1, 4-BP DEL deletion Oguchi disease-2 [RCV000013885] Chr13:13q34 pathogenic
NM_002929.3(GRK1):c.1172C>A (p.Pro391His) single nucleotide variant Oguchi disease-2 [RCV000013886] Chr13:113731321 [GRCh38]
Chr13:114434294 [GRCh37]
Chr13:13q34		 pathogenic|likely pathogenic
NM_002929.2(GRK1):c.431G>A (p.Gly144Glu) single nucleotide variant Malignant melanoma [RCV000070298] Chr13:113667817 [GRCh38]
Chr13:114322132 [GRCh37]
Chr13:113370133 [NCBI36]
Chr13:13q34		 not provided
NM_002929.3(GRK1):c.1139T>A (p.Val380Asp) single nucleotide variant Oguchi disease-2 [RCV000013884]|not provided [RCV003225022] Chr13:113731288 [GRCh38]
Chr13:114434261 [GRCh37]
Chr13:13q34		 pathogenic|likely pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x3 copy number gain See cases [RCV000050921] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101868708-114293545)x3 copy number gain See cases [RCV000136805] Chr13:101868708..114293545 [GRCh38]
Chr13:102521058..115059020 [GRCh37]
Chr13:101319059..114077122 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107075477-114340331)x1 copy number loss See cases [RCV000137684] Chr13:107075477..114340331 [GRCh38]
Chr13:107727825..115085141 [GRCh37]
Chr13:106525826..114123908 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111118651-114340331)x3 copy number gain See cases [RCV000137378] Chr13:111118651..114340331 [GRCh38]
Chr13:111770998..115085141 [GRCh37]
Chr13:110568999..114123908 [NCBI36]
Chr13:13q34		 likely pathogenic
GRCh38/hg38 13q33.1-34(chr13:102883322-114340331)x1 copy number loss See cases [RCV000137823] Chr13:102883322..114340331 [GRCh38]
Chr13:103535672..115085141 [GRCh37]
Chr13:102333673..114123908 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q34(chr13:111355741-114340331)x1 copy number loss See cases [RCV000137957] Chr13:111355741..114340331 [GRCh38]
Chr13:112008088..115085141 [GRCh37]
Chr13:110806089..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3 copy number gain See cases [RCV000139160] Chr13:96745059..114327106 [GRCh38]
Chr13:97397313..115085141 [GRCh37]
Chr13:96195314..114110683 [NCBI36]
Chr13:13q32.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105861075-114342258)x1 copy number loss See cases [RCV000140449] Chr13:105861075..114342258 [GRCh38]
Chr13:106513424..115107733 [GRCh37]
Chr13:105311425..114125835 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3 copy number gain See cases [RCV000141331] Chr13:101762788..114340285 [GRCh38]
Chr13:102415138..115105760 [GRCh37]
Chr13:101213139..114123862 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q34(chr13:111200986-114340331)x1 copy number loss See cases [RCV000141232] Chr13:111200986..114340331 [GRCh38]
Chr13:111853333..115085141 [GRCh37]
Chr13:110651334..114123908 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q34(chr13:110857896-114342258)x1 copy number loss See cases [RCV000143102] Chr13:110857896..114342258 [GRCh38]
Chr13:111510243..115107733 [GRCh37]
Chr13:110308244..114125835 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104968135-114340331)x1 copy number loss See cases [RCV000143330] Chr13:104968135..114340331 [GRCh38]
Chr13:105620486..115085141 [GRCh37]
Chr13:104418487..114123908 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3 copy number gain See cases [RCV000143556] Chr13:105423935..114342258 [GRCh38]
Chr13:106076284..115107733 [GRCh37]
Chr13:104874285..114125835 [NCBI36]
Chr13:13q33.2-34		 uncertain significance
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000148262] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115085141 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:101049614-114327314)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051421]|See cases [RCV000051421] Chr13:101049614..114327314 [GRCh38]
Chr13:101587036..115085141 [GRCh37]
Chr13:100385037..114110891 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:101537045-114327173)x1 copy number loss See cases [RCV000051422] Chr13:101537045..114327173 [GRCh38]
Chr13:102189396..115085141 [GRCh37]
Chr13:100987397..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1 copy number loss See cases [RCV000051423] Chr13:102114025..114327173 [GRCh38]
Chr13:102766375..115085141 [GRCh37]
Chr13:101564376..114110750 [NCBI36]
Chr13:13q33.1-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1 copy number loss See cases [RCV000051448] Chr13:104461586..114327173 [GRCh38]
Chr13:105113936..115085141 [GRCh37]
Chr13:103911937..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1 copy number loss See cases [RCV000051449] Chr13:104698508..114327173 [GRCh38]
Chr13:105350859..115085141 [GRCh37]
Chr13:104148860..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:105571072-114327314)x1 copy number loss See cases [RCV000051450] Chr13:105571072..114327314 [GRCh38]
Chr13:106223421..115085141 [GRCh37]
Chr13:105021422..114110891 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107168805-114327314)x1 copy number loss See cases [RCV000051452] Chr13:107168805..114327314 [GRCh38]
Chr13:107821153..115085141 [GRCh37]
Chr13:106619154..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111541166-113671678)x1 copy number loss See cases [RCV000051453] Chr13:111541166..113671678 [GRCh38]
Chr13:112193513..114325993 [GRCh37]
Chr13:110991514..113648401 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q34(chr13:113084152-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051454]|See cases [RCV000051454] Chr13:113084152..114327173 [GRCh38]
Chr13:113738466..115085141 [GRCh37]
Chr13:112786467..114110750 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q33.2-34(chr13:106157165-114327173)x1 copy number loss See cases [RCV000051180] Chr13:106157165..114327173 [GRCh38]
Chr13:106809514..115085141 [GRCh37]
Chr13:105607515..114110750 [NCBI36]
Chr13:13q33.2-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:108743171-114327173)x1 copy number loss See cases [RCV000050540] Chr13:108743171..114327173 [GRCh38]
Chr13:109395519..115085141 [GRCh37]
Chr13:108193520..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1 copy number loss See cases [RCV000050922] Chr13:107918132..114327173 [GRCh38]
Chr13:108570480..115092648 [GRCh37]
Chr13:107368481..114110750 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:113328389-113671476)x3 copy number gain See cases [RCV000052034] Chr13:113328389..113671476 [GRCh38]
Chr13:113982704..114325791 [GRCh37]
Chr13:113030705..113373792 [NCBI36]
Chr13:13q34		 uncertain significance
GRCh38/hg38 13q34(chr13:113448327-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052035]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052035]|See cases [RCV000052035] Chr13:113448327..114327314 [GRCh38]
Chr13:114102642..115085141 [GRCh37]
Chr13:113150643..114110891 [NCBI36]
Chr13:13q34		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3 copy number gain See cases [RCV000053792] Chr13:99472316..114293545 [GRCh38]
Chr13:100124570..115059020 [GRCh37]
Chr13:98922571..114077122 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3 copy number gain See cases [RCV000053795] Chr13:100039860..114327173 [GRCh38]
Chr13:100692114..115085141 [GRCh37]
Chr13:99490115..114110750 [NCBI36]
Chr13:13q32.3-34		 pathogenic
GRCh38/hg38 13q33.3-34(chr13:109162657-114327314)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053797]|See cases [RCV000053797] Chr13:109162657..114327314 [GRCh38]
Chr13:109815005..115085141 [GRCh37]
Chr13:108613006..114110891 [NCBI36]
Chr13:13q33.3-34		 pathogenic
GRCh38/hg38 13q34(chr13:111439396-114327173)x3 copy number gain See cases [RCV000053798] Chr13:111439396..114327173 [GRCh38]
Chr13:112091743..115085141 [GRCh37]
Chr13:110889744..114110750 [NCBI36]
Chr13:13q34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
NM_002929.3(GRK1):c.162C>T (p.Leu54=) single nucleotide variant GRK1-related disorder [RCV003965308]|Oguchi disease-2 [RCV000625340]|not specified [RCV001700422] Chr13:113667548 [GRCh38]
Chr13:114321863 [GRCh37]
Chr13:13q34		 benign|likely benign
NM_002929.3(GRK1):c.297C>G (p.Asp99Glu) single nucleotide variant Inborn genetic diseases [RCV003286317] Chr13:113667683 [GRCh38]
Chr13:114321998 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.430G>T (p.Gly144Trp) single nucleotide variant Inborn genetic diseases [RCV003299154] Chr13:113667816 [GRCh38]
Chr13:114322131 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.464C>T (p.Ala155Val) single nucleotide variant Inborn genetic diseases [RCV003291840] Chr13:113667850 [GRCh38]
Chr13:114322165 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.892A>G (p.Thr298Ala) single nucleotide variant not provided [RCV000761862] Chr13:113671563 [GRCh38]
Chr13:114325878 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_002929.3(GRK1):c.1313G>A (p.Arg438His) single nucleotide variant not provided [RCV000761863] Chr13:113733002 [GRCh38]
Chr13:114435975 [GRCh37]
Chr13:13q34		 likely benign|uncertain significance
NM_000705.4(ATP4B):c.769G>A (p.Ala257Thr) single nucleotide variant not specified [RCV004315027] Chr13:113649481 [GRCh38]
Chr13:114303796 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1384C>T (p.Gln462Ter) single nucleotide variant Congenital stationary night blindness [RCV000787607]|Oguchi disease-2 [RCV001175404] Chr13:113733073 [GRCh38]
Chr13:114436046 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.92G>A (p.Arg31Gln) single nucleotide variant Oguchi disease [RCV000790922] Chr13:113667478 [GRCh38]
Chr13:114321793 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.1220G>A (p.Arg407Gln) single nucleotide variant not provided [RCV001091748] Chr13:113732909 [GRCh38]
Chr13:114435882 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.827+625_883del deletion Oguchi disease-2 [RCV001175393] Chr13:113670439..113671554 [GRCh38]
Chr13:114324754..114325869 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1411_1412del (p.Pro471fs) deletion Oguchi disease-2 [RCV001175400] Chr13:113735079..113735080 [GRCh38]
Chr13:114438052..114438053 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.595G>C (p.Gly199Arg) single nucleotide variant Oguchi disease-2 [RCV001175391] Chr13:113667981 [GRCh38]
Chr13:114322296 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.55C>T (p.Arg19Ter) single nucleotide variant Oguchi disease-2 [RCV001175403] Chr13:113667441 [GRCh38]
Chr13:114321756 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000705.4(ATP4B):c.424T>G (p.Phe142Val) single nucleotide variant not specified [RCV004318782] Chr13:113653004 [GRCh38]
Chr13:114307319 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.700-113C>T single nucleotide variant not provided [RCV001707341] Chr13:113669574 [GRCh38]
Chr13:114323889 [GRCh37]
Chr13:13q34		 benign
NM_002929.3(GRK1):c.470T>C (p.Leu157Pro) single nucleotide variant Oguchi disease-2 [RCV001175390] Chr13:113667856 [GRCh38]
Chr13:114322171 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1129G>C (p.Ala377Pro) single nucleotide variant Oguchi disease-2 [RCV001175397] Chr13:113731278 [GRCh38]
Chr13:114434251 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1397-44C>G single nucleotide variant not provided [RCV001658663] Chr13:113735024 [GRCh38]
Chr13:114437997 [GRCh37]
Chr13:13q34		 benign
NM_002929.3(GRK1):c.614C>A (p.Ser205Ter) single nucleotide variant Oguchi disease-2 [RCV001175392] Chr13:113668000 [GRCh38]
Chr13:114322315 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.923T>C (p.Leu308Pro) single nucleotide variant Oguchi disease-2 [RCV001175394] Chr13:113671594 [GRCh38]
Chr13:114325909 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1084G>A (p.Glu362Lys) single nucleotide variant Oguchi disease-2 [RCV001175396] Chr13:113731233 [GRCh38]
Chr13:114434206 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) deletion Oguchi disease-2 [RCV001175402]|not provided [RCV003334033] Chr13:113735278..113735281 [GRCh38]
Chr13:114438251..114438254 [GRCh37]
Chr13:13q34		 pathogenic|likely pathogenic
NM_002929.3(GRK1):c.971del (p.Leu324fs) deletion Oguchi disease-2 [RCV001175395] Chr13:113671642 [GRCh38]
Chr13:114325957 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1312C>T (p.Arg438Cys) single nucleotide variant Oguchi disease-2 [RCV001175405] Chr13:113733001 [GRCh38]
Chr13:114435974 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.142_145del (p.Glu48fs) deletion Oguchi disease-2 [RCV001175389] Chr13:113667526..113667529 [GRCh38]
Chr13:114321841..114321844 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1138G>T (p.Val380Phe) single nucleotide variant Oguchi disease-2 [RCV001175398] Chr13:113731287 [GRCh38]
Chr13:114434260 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1549_1559del (p.Pro517fs) deletion Oguchi disease-2 [RCV001175401] Chr13:113735220..113735230 [GRCh38]
Chr13:114438193..114438203 [GRCh37]
Chr13:13q34		 likely pathogenic
NC_000013.11:g.113667152G>A single nucleotide variant not provided [RCV001645757] Chr13:113667152 [GRCh38]
Chr13:114321467 [GRCh37]
Chr13:13q34		 benign
NM_002929.3(GRK1):c.700-5T>C single nucleotide variant not provided [RCV001650580] Chr13:113669682 [GRCh38]
Chr13:114323997 [GRCh37]
Chr13:13q34		 benign
NM_002929.3(GRK1):c.986-13A>G single nucleotide variant not provided [RCV001651699] Chr13:113723061 [GRCh38]
Chr13:114426034 [GRCh37]
Chr13:13q34		 benign
NM_002929.3(GRK1):c.1177C>T (p.Arg393Ter) single nucleotide variant Oguchi disease-2 [RCV001175399] Chr13:113731326 [GRCh38]
Chr13:114434299 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_002929.3(GRK1):c.1195-50A>G single nucleotide variant not provided [RCV001693713] Chr13:113732834 [GRCh38]
Chr13:114435807 [GRCh37]
Chr13:13q34		 benign
NC_000013.11:g.109179481_114327244del deletion Factor X deficiency [RCV001818108] Chr13:109179481..114327244 [GRCh38]
Chr13:13q33.3-34		 pathogenic
NM_002929.3(GRK1):c.572T>A (p.Leu191Gln) single nucleotide variant Inborn genetic diseases [RCV003279819] Chr13:113667958 [GRCh38]
Chr13:114322273 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.604G>A (p.Ala202Thr) single nucleotide variant not specified [RCV004083887] Chr13:113651679 [GRCh38]
Chr13:114305994 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.412C>A (p.Pro138Thr) single nucleotide variant Inborn genetic diseases [RCV002686964] Chr13:113667798 [GRCh38]
Chr13:114322113 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.621C>G (p.Cys207Trp) single nucleotide variant Inborn genetic diseases [RCV002991145] Chr13:113668007 [GRCh38]
Chr13:114322322 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.368G>A (p.Cys123Tyr) single nucleotide variant Inborn genetic diseases [RCV002969689] Chr13:113667754 [GRCh38]
Chr13:114322069 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.178T>C (p.Tyr60His) single nucleotide variant not specified [RCV004156817] Chr13:113654877 [GRCh38]
Chr13:114309192 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.77C>T (p.Thr26Met) single nucleotide variant not specified [RCV004120327] Chr13:113658068 [GRCh38]
Chr13:114312383 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.151C>T (p.Arg51Cys) single nucleotide variant Inborn genetic diseases [RCV002977628] Chr13:113667537 [GRCh38]
Chr13:114321852 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.289A>C (p.Thr97Pro) single nucleotide variant Inborn genetic diseases [RCV002762105] Chr13:113667675 [GRCh38]
Chr13:114321990 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.37C>A (p.Arg13Ser) single nucleotide variant not specified [RCV004155742] Chr13:113658108 [GRCh38]
Chr13:114312423 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.767C>T (p.Ala256Val) single nucleotide variant Inborn genetic diseases [RCV002980908] Chr13:113669754 [GRCh38]
Chr13:114324069 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.808G>A (p.Val270Met) single nucleotide variant not specified [RCV004131417] Chr13:113649442 [GRCh38]
Chr13:114303757 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.467A>T (p.His156Leu) single nucleotide variant Inborn genetic diseases [RCV002760056] Chr13:113667853 [GRCh38]
Chr13:114322168 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.178A>C (p.Ser60Arg) single nucleotide variant Inborn genetic diseases [RCV002702254] Chr13:113667564 [GRCh38]
Chr13:114321879 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.865A>T (p.Ile289Phe) single nucleotide variant not specified [RCV004218381] Chr13:113649385 [GRCh38]
Chr13:114303700 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.463G>T (p.Ala155Ser) single nucleotide variant Inborn genetic diseases [RCV003003516] Chr13:113667849 [GRCh38]
Chr13:114322164 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.220C>G (p.Gln74Glu) single nucleotide variant not specified [RCV004074737] Chr13:113654835 [GRCh38]
Chr13:114309150 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.395C>T (p.Ala132Val) single nucleotide variant Inborn genetic diseases [RCV002712240] Chr13:113667781 [GRCh38]
Chr13:114322096 [GRCh37]
Chr13:13q34		 likely benign
NM_000705.4(ATP4B):c.778G>A (p.Ala260Thr) single nucleotide variant not specified [RCV004198639] Chr13:113649472 [GRCh38]
Chr13:114303787 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.362T>C (p.Leu121Pro) single nucleotide variant Inborn genetic diseases [RCV002717973] Chr13:113667748 [GRCh38]
Chr13:114322063 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.662C>G (p.Pro221Arg) single nucleotide variant not specified [RCV004189043] Chr13:113650458 [GRCh38]
Chr13:114304773 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.623G>A (p.Arg208His) single nucleotide variant not specified [RCV004289584] Chr13:113650497 [GRCh38]
Chr13:114304812 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.464C>T (p.Thr155Met) single nucleotide variant not specified [RCV004252775] Chr13:113652964 [GRCh38]
Chr13:114307279 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.508_516del (p.Tyr170_Leu172del) deletion Oguchi disease-2 [RCV003164470] Chr13:113667890..113667898 [GRCh38]
Chr13:114322205..114322213 [GRCh37]
Chr13:13q34		 likely pathogenic
NM_000705.4(ATP4B):c.638C>T (p.Pro213Leu) single nucleotide variant not specified [RCV004260506] Chr13:113650482 [GRCh38]
Chr13:114304797 [GRCh37]
Chr13:13q34		 uncertain significance
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 copy number loss Chromosome 13q33-q34 deletion syndrome [RCV003327641] Chr13:106425676..114326445 [GRCh38]
Chr13:13q33.3-34		 pathogenic
NM_002929.3(GRK1):c.655A>C (p.Lys219Gln) single nucleotide variant not provided [RCV003334158] Chr13:113668041 [GRCh38]
Chr13:114322356 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.746T>C (p.Phe249Ser) single nucleotide variant Inborn genetic diseases [RCV003341173] Chr13:113669733 [GRCh38]
Chr13:114324048 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.497C>A (p.Ala166Glu) single nucleotide variant not specified [RCV004358844] Chr13:113652931 [GRCh38]
Chr13:114307246 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.139T>C (p.Phe47Leu) single nucleotide variant not specified [RCV004346917] Chr13:113654916 [GRCh38]
Chr13:114309231 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004418505] Chr13:113658140 [GRCh38]
Chr13:114312455 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.807C>A (p.His269Gln) single nucleotide variant not specified [RCV004418506] Chr13:113649443 [GRCh38]
Chr13:114303758 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.179A>G (p.Tyr60Cys) single nucleotide variant not specified [RCV004418502] Chr13:113654876 [GRCh38]
Chr13:114309191 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.857A>G (p.Lys286Arg) single nucleotide variant not specified [RCV004418507] Chr13:113649393 [GRCh38]
Chr13:114303708 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.234G>A (p.Ser78=) single nucleotide variant GRK1-related disorder [RCV003906892] Chr13:113667620 [GRCh38]
Chr13:114321935 [GRCh37]
Chr13:13q34		 likely benign
NM_000705.4(ATP4B):c.232C>T (p.Arg78Trp) single nucleotide variant not specified [RCV004418503] Chr13:113654823 [GRCh38]
Chr13:114309138 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV004418504] Chr13:113652931 [GRCh38]
Chr13:114307246 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1098C>G (p.Gly366=) single nucleotide variant GRK1-related disorder [RCV003963901] Chr13:113731247 [GRCh38]
Chr13:114434220 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.264C>T (p.Leu88=) single nucleotide variant GRK1-related disorder [RCV003977189] Chr13:113667650 [GRCh38]
Chr13:114321965 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.*2T>C single nucleotide variant GRK1-related disorder [RCV003966905] Chr13:113735365 [GRCh38]
Chr13:114438338 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1161G>A (p.Ala387=) single nucleotide variant GRK1-related disorder [RCV003971526] Chr13:113731310 [GRCh38]
Chr13:114434283 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1194+7G>A single nucleotide variant GRK1-related disorder [RCV003937244] Chr13:113731350 [GRCh38]
Chr13:114434323 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1407G>A (p.Met469Ile) single nucleotide variant GRK1-related disorder [RCV003934286] Chr13:113735078 [GRCh38]
Chr13:114438051 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1575G>A (p.Thr525=) single nucleotide variant GRK1-related disorder [RCV003911879] Chr13:113735246 [GRCh38]
Chr13:114438219 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.1050G>A (p.Lys350=) single nucleotide variant GRK1-related disorder [RCV003897398] Chr13:113723138 [GRCh38]
Chr13:114426111 [GRCh37]
Chr13:13q34		 likely benign
NM_002929.3(GRK1):c.431G>C (p.Gly144Ala) single nucleotide variant Inborn genetic diseases [RCV004395978] Chr13:113667817 [GRCh38]
Chr13:114322132 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.142G>C (p.Glu48Gln) single nucleotide variant Inborn genetic diseases [RCV004395976] Chr13:113667528 [GRCh38]
Chr13:114321843 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.806T>C (p.Ile269Thr) single nucleotide variant Inborn genetic diseases [RCV004395980] Chr13:113669793 [GRCh38]
Chr13:114324108 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.814G>A (p.Gly272Arg) single nucleotide variant Inborn genetic diseases [RCV004395981] Chr13:113669801 [GRCh38]
Chr13:114324116 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.556G>C (p.Gly186Arg) single nucleotide variant Inborn genetic diseases [RCV004624047] Chr13:113667942 [GRCh38]
Chr13:114322257 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.218A>T (p.Gln73Leu) single nucleotide variant Inborn genetic diseases [RCV004634874] Chr13:113667604 [GRCh38]
Chr13:114321919 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.362C>T (p.Ser121Phe) single nucleotide variant not specified [RCV004687731] Chr13:113653066 [GRCh38]
Chr13:114307381 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.712C>G (p.Gln238Glu) single nucleotide variant not specified [RCV004680093] Chr13:113650408 [GRCh38]
Chr13:114304723 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.248C>A (p.Thr83Asn) single nucleotide variant not specified [RCV004680094] Chr13:113653428 [GRCh38]
Chr13:114307743 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.50T>C (p.Phe17Ser) single nucleotide variant not specified [RCV004680096] Chr13:113658095 [GRCh38]
Chr13:114312410 [GRCh37]
Chr13:13q34		 uncertain significance
NM_002929.3(GRK1):c.254C>T (p.Ala85Val) single nucleotide variant Inborn genetic diseases [RCV004634875] Chr13:113667640 [GRCh38]
Chr13:114321955 [GRCh37]
Chr13:13q34		 uncertain significance
NM_000705.4(ATP4B):c.667G>A (p.Gly223Ser) single nucleotide variant not specified [RCV004680088] Chr13:113650453 [GRCh38]
Chr13:114304768 [GRCh37]
Chr13:13q34		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1515
Count of miRNA genes:752
Interacting mature miRNAs:880
Transcripts:ENST00000335678, ENST00000545304, ENST00000606140
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
406912847GWAS561823_Hphotoreceptor cell layer thickness measurement QTL GWAS561823 (human)5e-18photoreceptor cell layer thickness measurement13113669682113669683Human

Markers in Region
G46170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37375,429,510 - 75,429,759UniSTSGRCh37
Build 36375,512,200 - 75,512,449RGDNCBI36
Celera375,367,158 - 75,367,407RGD
HuRef1394,995,191 - 94,995,390UniSTS
HuRef375,434,048 - 75,434,297UniSTS
HuRef5134,327,580 - 134,327,710UniSTS
HuRef1394,995,191 - 94,995,462UniSTS
HuRef5134,327,582 - 134,327,710UniSTS
RH47014  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3713114,438,225 - 114,438,385UniSTSGRCh37
Celera1395,166,109 - 95,166,269RGD
Cytogenetic Map13q34UniSTS
HuRef1394,993,645 - 94,993,805UniSTS
GeneMap99-GB4 RH Map13320.77UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_002929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC187648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH013781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL442125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY327580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM702747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FP565177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FP565577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L77503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LJII02000116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335678   ⟹   ENSP00000334876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,667,219 - 113,737,736 (+)Ensembl
Ensembl Acc Id: ENST00000545304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,726,486 - 113,735,236 (+)Ensembl
Ensembl Acc Id: ENST00000606140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl13113,734,475 - 113,737,735 (+)Ensembl
RefSeq Acc Id: NM_002929   ⟹   NP_002920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,667,219 - 113,737,736 (+)NCBI
GRCh3713114,426,046 - 114,438,637 (+)ENTREZGENE
GRCh3713114,321,594 - 114,325,974 (+)NCBI
Build 3613113,369,595 - 113,373,975 (+)NCBI Archive
HuRef1394,993,393 - 94,997,833 (-)ENTREZGENE
HuRef1394,760,843 - 94,763,381 (+)NCBI
CHM1_113114,290,923 - 114,407,284 (+)NCBI
T2T-CHM13v2.013112,926,288 - 112,947,029 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430493   ⟹   XP_047286449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3813113,648,199 - 113,737,736 (+)NCBI
RefSeq Acc Id: XM_054374786   ⟹   XP_054230761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.013112,903,498 - 112,947,029 (+)NCBI
RefSeq Acc Id: NP_002920   ⟸   NM_002929
- UniProtKB: Q53X14 (UniProtKB/Swiss-Prot),   Q15835 (UniProtKB/Swiss-Prot),   B9EIS4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000334876   ⟸   ENST00000335678
RefSeq Acc Id: XP_047286449   ⟸   XM_047430493
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230761   ⟸   XM_054374786
- Peptide Label: isoform X1
Protein Domains
AGC-kinase C-terminal   Protein kinase   RGS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15835-F1-model_v2 AlphaFold Q15835 1-563 view protein structure

Promoters
RGD ID:7226915
Promoter ID:EPDNEW_H19204
Type:initiation region
Name:GRK1_1
Description:G protein-coupled receptor kinase 1
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
GRCh3813113,667,252 - 113,667,312EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10013 AgrOrtholog
COSMIC GRK1 COSMIC
Ensembl Genes ENSG00000185974 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000281988 UniProtKB/TrEMBL
  ENSG00000288263 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000335678 ENTREZGENE
  ENST00000335678.7 UniProtKB/Swiss-Prot
  ENST00000631997.1 UniProtKB/TrEMBL
  ENST00000672946.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.167.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185974 GTEx
  ENSG00000281988 GTEx
  ENSG00000288263 GTEx
HGNC ID HGNC:10013 ENTREZGENE
Human Proteome Map GRK1 Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRK1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdomain_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6011 UniProtKB/Swiss-Prot
NCBI Gene 6011 ENTREZGENE
OMIM 180381 OMIM
PANTHER G PROTEIN-COUPLED RECEPTOR KINASE/RIBOSOMAL PROTEIN S6 KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24355:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34391 PharmGKB
PRINTS GPCRKINASE 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
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TK_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YXB6_HUMAN UniProtKB/TrEMBL
  B9EIS4 ENTREZGENE, UniProtKB/TrEMBL
  O95098_HUMAN UniProtKB/TrEMBL
  Q15835 ENTREZGENE
  Q53X14 ENTREZGENE
  Q71VB6_HUMAN UniProtKB/TrEMBL
  RK_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53X14 UniProtKB/Swiss-Prot