GNA11 (G protein subunit alpha 11) - Rat Genome Database

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Gene: GNA11 (G protein subunit alpha 11) Homo sapiens
Analyze
Symbol: GNA11
Name: G protein subunit alpha 11
RGD ID: 1342605
HGNC Page HGNC:4379
Description: Predicted to enable several functions, including G protein activity; G-protein beta/gamma-subunit complex binding activity; and ion channel regulator activity. Predicted to be involved in several processes, including G protein-coupled receptor signaling pathway; entrainment of circadian clock; and phototransduction, visible light. Predicted to act upstream of or within several processes, including cellular response to pH; regulation of melanocyte differentiation; and skeletal system development. Located in cytoplasm. Implicated in autosomal dominant hypocalcemia 2 and familial hypocalciuric hypercalcemia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FBH; FBH2; FHH2; g alpha-11; G-protein subunit alpha-11; GNA-11; guanine nucleotide binding protein (G protein), alpha 11 (Gq class); guanine nucleotide-binding protein G(y) subunit alpha; guanine nucleotide-binding protein subunit alpha-11; guanine nucleotide-binding protein, Gq class, GNA11; heterotrimeric guanine nucleotide-binding protein 1K; HG1K; HHC2; HYPOC2; hypocalciuric hypercalcemia 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC346329  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38193,094,362 - 3,123,999 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl193,094,362 - 3,123,999 (+)EnsemblGRCh38hg38GRCh38
GRCh37193,094,360 - 3,123,997 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,045,408 - 3,072,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 34193,045,529 - 3,072,452NCBI
Celera193,028,658 - 3,055,719 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,861,199 - 2,888,094 (+)NCBIHuRef
CHM1_1193,110,108 - 3,121,429 (+)NCBICHM1_1
T2T-CHM13v2.0193,068,114 - 3,097,735 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal visual accommodation  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the upper limb  (IAGP)
Alopecia  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arrhythmia  (IAGP)
Arterial stenosis  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Asymmetric growth  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Blue nevus  (IAGP)
Capillary hemangioma  (IAGP)
Capillary malformation  (IAGP)
Chondrocalcinosis  (IAGP)
Choroidal melanoma  (IAGP)
Ciliary body melanoma  (IAGP)
Cognitive impairment  (IAGP)
Congestive heart failure  (IAGP)
Cortical myoclonus  (IAGP)
Cutaneous melanoma  (IAGP)
Cutis marmorata  (IAGP)
Depression  (IAGP)
Displacement of the urethral meatus  (IAGP)
Dry skin  (IAGP)
Eczema  (IAGP)
EMG abnormality  (IAGP)
Emotional lability  (IAGP)
Fatigable weakness  (IAGP)
Finger syndactyly  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hypermagnesemia  (IAGP)
Hypermagnesiuria  (IAGP)
Hyperphosphatemia  (IAGP)
Hypocalcemia  (IAGP)
Hypocalciuria  (IAGP)
Hypomagnesemia  (IAGP)
Hypotension  (IAGP)
Hypothyroidism  (IAGP)
Increased intracranial pressure  (IAGP)
Inferior lens subluxation  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intrauterine growth retardation  (IAGP)
Iris melanoma  (IAGP)
Irregular hyperpigmentation  (IAGP)
Leukocoria  (IAGP)
Melanoma  (IAGP)
Metamorphopsia  (IAGP)
Micrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Multiple lipomas  (IAGP)
Muscle spasm  (IAGP)
Mydriasis  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Ocular hypertension  (IAGP)
Ocular pain  (IAGP)
Optic atrophy  (IAGP)
Oral cleft  (IAGP)
Pancreatitis  (IAGP)
Parathormone-independent increased renal tubular calcium reabsorption  (IAGP)
Paresthesia  (IAGP)
Patent ductus arteriosus  (IAGP)
Peptic ulcer  (IAGP)
Photopsia  (IAGP)
Postnatal growth retardation  (IAGP)
Primary hyperparathyroidism  (IAGP)
Purpura  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced consciousness/confusion  (IAGP)
Retinal detachment  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short lower limbs  (IAGP)
Skin erosion  (IAGP)
Telangiectasia of the skin  (IAGP)
Toe syndactyly  (IAGP)
Uveal melanoma  (IAGP)
Visual loss  (IAGP)
Vitreous hemorrhage  (IAGP)
Writer's cramp  (IAGP)
Zonular cataract  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Molecular properties of muscarinic acetylcholine receptors. Haga T Proc Jpn Acad Ser B Phys Biol Sci. 2013;89(6):226-56.
3. Science review: Vasopressin and the cardiovascular system part 1--receptor physiology. Holmes CL, etal., Crit Care. 2003 Dec;7(6):427-34. Epub 2003 Jun 26.
4. Pleiotropic AT1 receptor signaling pathways mediating physiological and pathogenic actions of angiotensin II. Hunyady L and Catt KJ, Mol Endocrinol. 2006 May;20(5):953-70. Epub 2005 Sep 1.
5. Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. Offermanns S, etal., EMBO J 1998 Aug 3;17(15):4304-12.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Regulation of phosphoinositide-specific phospholipase C. Rhee SG Annu Rev Biochem. 2001;70:281-312.
Additional References at PubMed
PMID:1302014   PMID:1322796   PMID:1902575   PMID:7492305   PMID:7797501   PMID:7937899   PMID:8317484   PMID:8530500   PMID:8552586   PMID:8621713   PMID:8836152   PMID:9152406  
PMID:9175863   PMID:9462300   PMID:9481484   PMID:9858594   PMID:10446129   PMID:10598579   PMID:10718832   PMID:10789830   PMID:11118617   PMID:11507095   PMID:11524429   PMID:11916537  
PMID:12130679   PMID:12193606   PMID:12193720   PMID:12401211   PMID:12477932   PMID:12670961   PMID:12759536   PMID:14702039   PMID:15057824   PMID:15322542   PMID:15489334   PMID:15507206  
PMID:15623527   PMID:15632174   PMID:15693018   PMID:15863506   PMID:16102047   PMID:16297597   PMID:16350855   PMID:16365309   PMID:16611642   PMID:16723377   PMID:17056873   PMID:17110338  
PMID:17535809   PMID:17552882   PMID:17603074   PMID:17897319   PMID:18240029   PMID:18632858   PMID:18703424   PMID:18713748   PMID:18936096   PMID:19056867   PMID:19199708   PMID:19322201  
PMID:20531218   PMID:21083380   PMID:21366456   PMID:21464134   PMID:21873635   PMID:21945171   PMID:22240728   PMID:22307269   PMID:22758774   PMID:22939629   PMID:22977135   PMID:23376485  
PMID:23493750   PMID:23533145   PMID:23572068   PMID:23599145   PMID:23634288   PMID:23773523   PMID:23778528   PMID:23802516   PMID:23802536   PMID:23802749   PMID:24141786   PMID:24308950  
PMID:24497640   PMID:24576953   PMID:24823460   PMID:24970262   PMID:25280020   PMID:25304237   PMID:25659154   PMID:25695059   PMID:25934394   PMID:26100877   PMID:26186194   PMID:26344197  
PMID:26368812   PMID:26399561   PMID:26462151   PMID:26496610   PMID:26645730   PMID:26729423   PMID:26778290   PMID:26818911   PMID:26994139   PMID:27089234   PMID:27334330   PMID:27432908  
PMID:27498141   PMID:27566546   PMID:27684187   PMID:27913609   PMID:28012237   PMID:28083870   PMID:28120216   PMID:28248732   PMID:28444874   PMID:28514442   PMID:28700778   PMID:28718761  
PMID:28982892   PMID:29059311   PMID:29107092   PMID:29117863   PMID:29209985   PMID:29509190   PMID:29540532   PMID:29570931   PMID:30024968   PMID:30204251   PMID:30425250   PMID:30552676  
PMID:30783010   PMID:30890659   PMID:31173078   PMID:31189994   PMID:31501420   PMID:31527615   PMID:31536960   PMID:31580399   PMID:31586073   PMID:31614358   PMID:31707589   PMID:31726051  
PMID:31838126   PMID:31871319   PMID:31887832   PMID:31992579   PMID:31995728   PMID:32064597   PMID:32687490   PMID:32771470   PMID:32780723   PMID:32958754   PMID:33003441   PMID:33639168  
PMID:33961781   PMID:34079125   PMID:34260077   PMID:34385710   PMID:35212356   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35509820   PMID:35580369   PMID:35676659   PMID:35679444  
PMID:35715928   PMID:35831314   PMID:36114006   PMID:36215168   PMID:36440997  


Genomics

Comparative Map Data
GNA11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38193,094,362 - 3,123,999 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl193,094,362 - 3,123,999 (+)EnsemblGRCh38hg38GRCh38
GRCh37193,094,360 - 3,123,997 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,045,408 - 3,072,468 (+)NCBINCBI36Build 36hg18NCBI36
Build 34193,045,529 - 3,072,452NCBI
Celera193,028,658 - 3,055,719 (+)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef192,861,199 - 2,888,094 (+)NCBIHuRef
CHM1_1193,110,108 - 3,121,429 (+)NCBICHM1_1
T2T-CHM13v2.0193,068,114 - 3,097,735 (+)NCBIT2T-CHM13v2.0
Gna11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391081,364,558 - 81,380,996 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1081,364,558 - 81,381,024 (-)EnsemblGRCm39 Ensembl
GRCm381081,528,724 - 81,545,162 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,528,724 - 81,545,190 (-)EnsemblGRCm38mm10GRCm38
MGSCv371080,991,477 - 81,007,791 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361080,931,861 - 80,948,175 (-)NCBIMGSCv36mm8
Celera1082,551,913 - 82,568,227 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Gna11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.278,163,752 - 8,177,636 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl78,162,750 - 8,179,812 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx711,049,827 - 11,063,675 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0712,925,490 - 12,939,339 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0710,792,631 - 10,806,445 (+)NCBIRnor_WKY
Rnor_6.0711,033,400 - 11,047,284 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,033,317 - 11,047,437 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,200,712 - 11,214,475 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.479,636,748 - 9,662,492 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.179,636,747 - 9,662,492 (+)NCBI
Celera76,354,654 - 6,368,340 (+)NCBICelera
Cytogenetic Map7q11NCBI
Gna11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554955,285,380 - 5,302,631 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554955,286,891 - 5,302,631 (-)NCBIChiLan1.0ChiLan1.0
GNA11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1193,074,484 - 3,102,124 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl193,074,483 - 3,102,124 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0192,120,398 - 2,149,161 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GNA11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha2055,871,216 - 55,890,787 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02056,806,259 - 56,825,830 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2056,806,259 - 56,825,830 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12055,861,412 - 55,880,956 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02056,345,542 - 56,365,145 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02056,544,290 - 56,563,840 (-)NCBIUU_Cfam_GSD_1.0
Gna11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118216,045,637 - 216,064,006 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365881,770,771 - 1,789,170 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365881,770,777 - 1,789,143 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GNA11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl275,437,201 - 75,457,092 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1275,439,405 - 75,456,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2276,071,093 - 76,088,406 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2q21-q24NCBI
GNA11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.162,858,880 - 2,887,694 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl62,858,937 - 2,887,704 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660815,694,672 - 5,723,312 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gna11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248286,077,851 - 6,093,750 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248286,078,485 - 6,093,744 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GNA11
169 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002067.5(GNA11):c.987G>A (p.Thr329=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501697]|not provided [RCV001494529]|not specified [RCV001820196] Chr19:3121086 [GRCh38]
Chr19:3121084 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.595ATC[1] (p.Ile200del) microsatellite Familial hypocalciuric hypercalcemia 2 [RCV000054474] Chr19:3115061..3115063 [GRCh38]
Chr19:3115059..3115061 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.404T>A (p.Leu135Gln) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV000054475] Chr19:3113412 [GRCh38]
Chr19:3113410 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) single nucleotide variant Autosomal dominant hypocalcemia 2 [RCV000054476]|not provided [RCV002514274] Chr19:3115009 [GRCh38]
Chr19:3115007 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|uncertain significance
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) single nucleotide variant Autosomal dominant hypocalcemia 2 [RCV000054477] Chr19:3121122 [GRCh38]
Chr19:3121120 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) single nucleotide variant Autosomal dominant hypocalcemia 2 [RCV000054478]|Familial hypocalciuric hypercalcemia 2 [RCV002504951]|not provided [RCV001853077] Chr19:3110190 [GRCh38]
Chr19:3110188 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) single nucleotide variant Autosomal dominant hypocalcemia 2 [RCV000054479] Chr19:3118950 [GRCh38]
Chr19:3118948 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) single nucleotide variant Autosomal dominant hypocalcemia 2 [RCV000144048] Chr19:3110191 [GRCh38]
Chr19:3110189 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3 copy number gain See cases [RCV000054107] Chr19:3080621..3730716 [GRCh38]
Chr19:3080619..3730714 [GRCh37]
Chr19:3031619..3681714 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.193G>A (p.Ala65Thr) single nucleotide variant not provided [RCV000889157]|not specified [RCV000121154] Chr19:3110205 [GRCh38]
Chr19:3110203 [GRCh37]
Chr19:19p13.3		 benign|not provided
NM_002067.5(GNA11):c.943G>A (p.Asp315Asn) single nucleotide variant not provided [RCV000122497] Chr19:3121042 [GRCh38]
Chr19:3121040 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:3020573-3482611)x3 copy number gain See cases [RCV000139774] Chr19:3020573..3482611 [GRCh38]
Chr19:3020571..3482609 [GRCh37]
Chr19:2971571..3433609 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:2884401-3451078)x3 copy number gain See cases [RCV000143086] Chr19:2884401..3451078 [GRCh38]
Chr19:2884399..3451076 [GRCh37]
Chr19:2835399..3402076 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3		 likely pathogenic
NM_002067.5(GNA11):c.771C>T (p.Thr257=) single nucleotide variant not provided [RCV001516626]|not specified [RCV000245998] Chr19:3119241 [GRCh38]
Chr19:3119239 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.736-20T>G single nucleotide variant not provided [RCV001618420]|not specified [RCV000254025] Chr19:3119186 [GRCh38]
Chr19:3119184 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.189C>T (p.His63=) single nucleotide variant not provided [RCV000886037]|not specified [RCV000245319] Chr19:3110201 [GRCh38]
Chr19:3110199 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+18T>G single nucleotide variant not provided [RCV002058098]|not specified [RCV000250268] Chr19:3110351 [GRCh38]
Chr19:3110349 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.889+8G>C single nucleotide variant not provided [RCV001510564]|not specified [RCV000250585] Chr19:3119367 [GRCh38]
Chr19:3119365 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) single nucleotide variant Malignant melanoma of skin [RCV000444127]|Melanoma [RCV000425425]|Uveal melanoma [RCV000437415]|not provided [RCV002254297] Chr19:3118944 [GRCh38]
Chr19:3118942 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) single nucleotide variant Melanoma [RCV000425941]|Uveal melanoma [RCV000432719] Chr19:3118944 [GRCh38]
Chr19:3118942 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.571G>A (p.Glu191Lys) single nucleotide variant not provided [RCV000518852] Chr19:3115038 [GRCh38]
Chr19:3115036 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) single nucleotide variant CLOVES syndrome [RCV001526637]|Capillary malformation [RCV001526569]|Lobular capillary hemangiomas [RCV000662311]|Segmental undergrowth associated with capillary malformation [RCV001706699]|not provided [RCV002254302] Chr19:3115014 [GRCh38]
Chr19:3115012 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_002067.5(GNA11):c.735+1_735+2insGA insertion not provided [RCV000723031] Chr19:3119054..3119055 [GRCh38]
Chr19:3119052..3119053 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.605+1_605+2insATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCT insertion not provided [RCV000723161] Chr19:3115073..3115074 [GRCh38]
Chr19:3115071..3115072 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3		 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
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
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
Single allele single nucleotide variant not provided [RCV001667668] Chr19:3094217 [GRCh38]
Chr19:3094215 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.476+95C>T single nucleotide variant not provided [RCV001535146] Chr19:3113579 [GRCh38]
Chr19:3113577 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.*70C>T single nucleotide variant not provided [RCV001568124] Chr19:3121249 [GRCh38]
Chr19:3121247 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-80_477-78del deletion not provided [RCV001547032] Chr19:3114864..3114866 [GRCh38]
Chr19:3114862..3114864 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.162G>A (p.Thr54=) single nucleotide variant not provided [RCV000920622] Chr19:3110174 [GRCh38]
Chr19:3110172 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.114C>G (p.Arg38=) single nucleotide variant not provided [RCV000975277] Chr19:3094765 [GRCh38]
Chr19:3094763 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.736-6C>T single nucleotide variant not provided [RCV000973221]|not specified [RCV002268379] Chr19:3119200 [GRCh38]
Chr19:3119198 [GRCh37]
Chr19:19p13.3		 benign|likely benign
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.321+9G>A single nucleotide variant not provided [RCV000880010]|not specified [RCV001817062] Chr19:3110342 [GRCh38]
Chr19:3110340 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.137-6C>T single nucleotide variant not provided [RCV000975460] Chr19:3110143 [GRCh38]
Chr19:3110141 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:3015481-3543109)x3 copy number gain not provided [RCV000740000] Chr19:3015481..3543109 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.889+48T>G single nucleotide variant not provided [RCV001609230] Chr19:3119407 [GRCh38]
Chr19:3119405 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.95A>G (p.Asp32Gly) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV000857316] Chr19:3094746 [GRCh38]
Chr19:3094744 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.234C>T (p.Leu78=) single nucleotide variant not provided [RCV000909524]|not specified [RCV001818818] Chr19:3110246 [GRCh38]
Chr19:3110244 [GRCh37]
Chr19:19p13.3		 benign|likely benign
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.687C>T (p.Leu229=) single nucleotide variant not provided [RCV000924083] Chr19:3119005 [GRCh38]
Chr19:3119003 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.1406030_3597207dup duplication Neurodevelopmental disorder [RCV000787423] Chr19:1406030..3597207 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.141G>A (p.Thr47=) single nucleotide variant not provided [RCV000962603]|not specified [RCV001819042] Chr19:3110153 [GRCh38]
Chr19:3110151 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.287C>T (p.Thr96Met) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002480772]|not provided [RCV001236129] Chr19:3110299 [GRCh38]
Chr19:3110297 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_2901044)_(3121449_?)del deletion not provided [RCV003105574] Chr19:2901044..3121449 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.*291dup duplication not provided [RCV001595159] Chr19:3121454..3121455 [GRCh38]
Chr19:3121452..3121453 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.477-241C>T single nucleotide variant not provided [RCV001621220] Chr19:3114703 [GRCh38]
Chr19:3114701 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+254A>G single nucleotide variant not provided [RCV001679425] Chr19:3110587 [GRCh38]
Chr19:3110585 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.322-152C>T single nucleotide variant not provided [RCV001639140] Chr19:3113178 [GRCh38]
Chr19:3113176 [GRCh37]
Chr19:19p13.3		 benign
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_3094650)_(3094805_?)dup duplication not provided [RCV003107584] Chr19:3094650..3094805 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.385G>A (p.Val129Ile) single nucleotide variant not provided [RCV003106860] Chr19:3113393 [GRCh38]
Chr19:3113391 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.476+288T>C single nucleotide variant not provided [RCV001639128] Chr19:3113772 [GRCh38]
Chr19:3113770 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.*290_*291dup duplication not provided [RCV001611307] Chr19:3121454..3121455 [GRCh38]
Chr19:3121452..3121453 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+156A>G single nucleotide variant not provided [RCV001670343] Chr19:3110489 [GRCh38]
Chr19:3110487 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.*291del deletion not provided [RCV001570809] Chr19:3121455 [GRCh38]
Chr19:3121453 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.705C>T (p.Tyr235=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501424]|not provided [RCV000886687] Chr19:3119023 [GRCh38]
Chr19:3119021 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-78C>T single nucleotide variant not provided [RCV001709188] Chr19:3114866 [GRCh38]
Chr19:3114864 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.322-23G>C single nucleotide variant not provided [RCV001688752] Chr19:3113307 [GRCh38]
Chr19:3113305 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.-43_-4del deletion not provided [RCV001587602]|not specified [RCV002268526] Chr19:3094600..3094639 [GRCh38]
Chr19:3094598..3094637 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.889+49G>T single nucleotide variant not provided [RCV001617500] Chr19:3119408 [GRCh38]
Chr19:3119406 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.885C>T (p.Phe295=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002502684]|not provided [RCV000904817] Chr19:3119355 [GRCh38]
Chr19:3119353 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.420C>A (p.Gly140=) single nucleotide variant not provided [RCV000933097] Chr19:3113428 [GRCh38]
Chr19:3113426 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.195C>T (p.Ala65=) single nucleotide variant not provided [RCV000935830] Chr19:3110207 [GRCh38]
Chr19:3110205 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.606-284C>T single nucleotide variant not provided [RCV001660937] Chr19:3118640 [GRCh38]
Chr19:3118638 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.322-87G>A single nucleotide variant not provided [RCV001559444] Chr19:3113243 [GRCh38]
Chr19:3113241 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.*133dup duplication not provided [RCV001639050] Chr19:3121301..3121302 [GRCh38]
Chr19:3121299..3121300 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.890-248T>G single nucleotide variant not provided [RCV001637235] Chr19:3120741 [GRCh38]
Chr19:3120739 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.230A>G (p.Lys77Arg) single nucleotide variant not provided [RCV001201717] Chr19:3110242 [GRCh38]
Chr19:3110240 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.476+298C>T single nucleotide variant not provided [RCV001677528] Chr19:3113782 [GRCh38]
Chr19:3113780 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+91G>A single nucleotide variant not provided [RCV001555851] Chr19:3110424 [GRCh38]
Chr19:3110422 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.605+54C>T single nucleotide variant not provided [RCV001530536] Chr19:3115126 [GRCh38]
Chr19:3115124 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.322-166G>A single nucleotide variant not provided [RCV001687934] Chr19:3113164 [GRCh38]
Chr19:3113162 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.*189C>T single nucleotide variant not provided [RCV001677563] Chr19:3121368 [GRCh38]
Chr19:3121366 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.605+312G>A single nucleotide variant not provided [RCV001619495] Chr19:3115384 [GRCh38]
Chr19:3115382 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.889+183G>A single nucleotide variant not provided [RCV001658795] Chr19:3119542 [GRCh38]
Chr19:3119540 [GRCh37]
Chr19:19p13.3		 likely benign
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.*112G>A single nucleotide variant not provided [RCV001709391] Chr19:3121291 [GRCh38]
Chr19:3121289 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.161C>T (p.Thr54Met) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV001706737] Chr19:3110173 [GRCh38]
Chr19:3110171 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.137-49G>A single nucleotide variant not provided [RCV001652086] Chr19:3110100 [GRCh38]
Chr19:3110098 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.*292_*294del deletion not provided [RCV001641101] Chr19:3121469..3121471 [GRCh38]
Chr19:3121467..3121469 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+30C>T single nucleotide variant not provided [RCV001682301] Chr19:3110363 [GRCh38]
Chr19:3110361 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+184A>G single nucleotide variant not provided [RCV001681370] Chr19:3110517 [GRCh38]
Chr19:3110515 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.-123G>A single nucleotide variant not provided [RCV001611868] Chr19:3094529 [GRCh38]
Chr19:3094527 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.322-172G>A single nucleotide variant not provided [RCV001609316] Chr19:3113158 [GRCh38]
Chr19:3113156 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.136+138C>T single nucleotide variant not provided [RCV001612811] Chr19:3094925 [GRCh38]
Chr19:3094923 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.767G>C (p.Arg256Pro) single nucleotide variant not provided [RCV001351660] Chr19:3119237 [GRCh38]
Chr19:3119235 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.*292G>A single nucleotide variant not provided [RCV001585032] Chr19:3121471 [GRCh38]
Chr19:3121469 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.149G>A (p.Ser50Asn) single nucleotide variant not provided [RCV001206089] Chr19:3110161 [GRCh38]
Chr19:3110159 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.151G>A (p.Gly51Arg) single nucleotide variant not provided [RCV001212608] Chr19:3110163 [GRCh38]
Chr19:3110161 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.477-42C>A single nucleotide variant not provided [RCV001548609] Chr19:3114902 [GRCh38]
Chr19:3114900 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.805G>A (p.Val269Ile) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002493677]|not provided [RCV001320866] Chr19:3119275 [GRCh38]
Chr19:3119273 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.961G>A (p.Asp321Asn) single nucleotide variant not provided [RCV001368173] Chr19:3121060 [GRCh38]
Chr19:3121058 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.889+4C>T single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002504560]|not provided [RCV001350543] Chr19:3119363 [GRCh38]
Chr19:3119361 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.138C>T (p.Gly46=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002486405]|not provided [RCV001345476] Chr19:3110150 [GRCh38]
Chr19:3110148 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_002067.5(GNA11):c.889+8G>A single nucleotide variant not provided [RCV001522205] Chr19:3119367 [GRCh38]
Chr19:3119365 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.570C>T (p.Ile190=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002488219]|not provided [RCV001403455] Chr19:3115037 [GRCh38]
Chr19:3115035 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-5C>T single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501517]|not provided [RCV001428449] Chr19:3113325 [GRCh38]
Chr19:3113323 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+1G>C single nucleotide variant not specified [RCV002247865] Chr19:3113485 [GRCh38]
Chr19:3113483 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NM_002067.5(GNA11):c.137-5C>G single nucleotide variant not provided [RCV001294932] Chr19:3110144 [GRCh38]
Chr19:3110142 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.606-2A>C single nucleotide variant Hypocalcemia, autosomal dominant 2 [RCV001292748] Chr19:3118922 [GRCh38]
Chr19:3118920 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.915G>A (p.Ala305=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501760]|not provided [RCV001511325] Chr19:3121014 [GRCh38]
Chr19:3121012 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.525C>G (p.Thr175=) single nucleotide variant not provided [RCV001482636] Chr19:3114992 [GRCh38]
Chr19:3114990 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.321+276G>C single nucleotide variant not provided [RCV001535297] Chr19:3110609 [GRCh38]
Chr19:3110607 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.372C>T (p.Phe124=) single nucleotide variant not provided [RCV001489019]|not specified [RCV002268492] Chr19:3113380 [GRCh38]
Chr19:3113378 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.534C>T (p.Asp178=) single nucleotide variant not provided [RCV001495928] Chr19:3115001 [GRCh38]
Chr19:3114999 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.508T>A (p.Leu170Met) single nucleotide variant not provided [RCV001431863] Chr19:3114975 [GRCh38]
Chr19:3114973 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.489C>T (p.Asp163=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002488325]|not provided [RCV001514759] Chr19:3114956 [GRCh38]
Chr19:3114954 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.240C>T (p.Tyr80=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501786]|not provided [RCV001514760] Chr19:3110252 [GRCh38]
Chr19:3110250 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.462C>T (p.Ser154=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002501624]|not provided [RCV001469460] Chr19:3113470 [GRCh38]
Chr19:3113468 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.903C>T (p.Asp301=) single nucleotide variant not provided [RCV001480485] Chr19:3121002 [GRCh38]
Chr19:3121000 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.137-9G>A single nucleotide variant not provided [RCV001592691] Chr19:3110140 [GRCh38]
Chr19:3110138 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.636G>A (p.Glu212=) single nucleotide variant not provided [RCV001439647] Chr19:3118954 [GRCh38]
Chr19:3118952 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.586C>T (p.Leu196=) single nucleotide variant not provided [RCV001426701] Chr19:3115053 [GRCh38]
Chr19:3115051 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.1002G>A (p.Thr334=) single nucleotide variant not provided [RCV001949815] Chr19:3121101 [GRCh38]
Chr19:3121099 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_002067.5(GNA11):c.384C>T (p.Tyr128=) single nucleotide variant not provided [RCV001871355] Chr19:3113392 [GRCh38]
Chr19:3113390 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-10G>A single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002495796]|not provided [RCV001513726] Chr19:3113320 [GRCh38]
Chr19:3113318 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.858G>C (p.Ser286=) single nucleotide variant not provided [RCV001515502] Chr19:3119328 [GRCh38]
Chr19:3119326 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.879C>T (p.Pro293=) single nucleotide variant not provided [RCV001500975]|not specified [RCV002268493] Chr19:3119349 [GRCh38]
Chr19:3119347 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.309C>T (p.Tyr103=) single nucleotide variant not provided [RCV001462183] Chr19:3110321 [GRCh38]
Chr19:3110319 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.490G>A (p.Val164Ile) single nucleotide variant not provided [RCV003107140] Chr19:3114957 [GRCh38]
Chr19:3114955 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.890-10C>T single nucleotide variant not provided [RCV003109019] Chr19:3120979 [GRCh38]
Chr19:3120977 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.646T>A (p.Trp216Arg) single nucleotide variant not provided [RCV001754726] Chr19:3118964 [GRCh38]
Chr19:3118962 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.976T>G (p.Ser326Ala) single nucleotide variant not provided [RCV001908903] Chr19:3121075 [GRCh38]
Chr19:3121073 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.645G>C (p.Lys215Asn) single nucleotide variant not provided [RCV001948613] Chr19:3118963 [GRCh38]
Chr19:3118961 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.274C>T (p.Arg92Trp) single nucleotide variant not provided [RCV001890163] Chr19:3110286 [GRCh38]
Chr19:3110284 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.476+4A>G single nucleotide variant not provided [RCV001886700] Chr19:3113488 [GRCh38]
Chr19:3113486 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.516C>G (p.Tyr172Ter) single nucleotide variant not provided [RCV001876746] Chr19:3114983 [GRCh38]
Chr19:3114981 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.889+5G>A single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002492044]|not provided [RCV001967864] Chr19:3119364 [GRCh38]
Chr19:3119362 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.821A>G (p.Asn274Ser) single nucleotide variant not provided [RCV001986651] Chr19:3119291 [GRCh38]
Chr19:3119289 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.605+5C>T single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002478217]|not provided [RCV001892257] Chr19:3115077 [GRCh38]
Chr19:3115075 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.217C>T (p.Arg73Cys) single nucleotide variant not provided [RCV001893620] Chr19:3110229 [GRCh38]
Chr19:3110227 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.907C>G (p.Gln303Glu) single nucleotide variant not provided [RCV002019769] Chr19:3121006 [GRCh38]
Chr19:3121004 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.659T>C (p.Phe220Ser) single nucleotide variant not provided [RCV001917878] Chr19:3118977 [GRCh38]
Chr19:3118975 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.476+12C>T single nucleotide variant not provided [RCV002111355] Chr19:3113496 [GRCh38]
Chr19:3113494 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV001934609] Chr19:3094674 [GRCh38]
Chr19:3094672 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.239dup (p.Tyr80Ter) duplication not provided [RCV002050632] Chr19:3110250..3110251 [GRCh38]
Chr19:3110248..3110249 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.1018G>A (p.Val340Met) single nucleotide variant not provided [RCV002018914] Chr19:3121117 [GRCh38]
Chr19:3121115 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_002067.5(GNA11):c.605+10G>A single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002478083]|not provided [RCV002029797] Chr19:3115082 [GRCh38]
Chr19:3115080 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_002067.5(GNA11):c.592A>C (p.Asn198His) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002486585]|not provided [RCV001989592] Chr19:3115059 [GRCh38]
Chr19:3115057 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.736-11G>A single nucleotide variant not provided [RCV001995540] Chr19:3119195 [GRCh38]
Chr19:3119193 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.502G>A (p.Ala168Thr) single nucleotide variant not provided [RCV001954868] Chr19:3114969 [GRCh38]
Chr19:3114967 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.235G>A (p.Val79Ile) single nucleotide variant not provided [RCV001996464] Chr19:3110247 [GRCh38]
Chr19:3110245 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.192C>T (p.Gly64=) single nucleotide variant not provided [RCV002090300] Chr19:3110204 [GRCh38]
Chr19:3110202 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-12G>A single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002507898]|not provided [RCV002190655] Chr19:3114932 [GRCh38]
Chr19:3114930 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.576C>T (p.Tyr192=) single nucleotide variant not provided [RCV002191685] Chr19:3115043 [GRCh38]
Chr19:3115041 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.321+8C>T single nucleotide variant not provided [RCV002185829] Chr19:3110341 [GRCh38]
Chr19:3110339 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-4G>C single nucleotide variant not provided [RCV002096676] Chr19:3113326 [GRCh38]
Chr19:3113324 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.137-16G>A single nucleotide variant not provided [RCV002197632] Chr19:3110133 [GRCh38]
Chr19:3110131 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.150C>T (p.Ser50=) single nucleotide variant not provided [RCV002205450] Chr19:3110162 [GRCh38]
Chr19:3110160 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.876C>T (p.Phe292=) single nucleotide variant not provided [RCV002091295] Chr19:3119346 [GRCh38]
Chr19:3119344 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.726G>A (p.Ser242=) single nucleotide variant not provided [RCV002210342] Chr19:3119044 [GRCh38]
Chr19:3119042 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.321+9G>T single nucleotide variant not provided [RCV002210147] Chr19:3110342 [GRCh38]
Chr19:3110340 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+16A>G single nucleotide variant not provided [RCV002111525] Chr19:3119069 [GRCh38]
Chr19:3119067 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.264G>A (p.Gln88=) single nucleotide variant not provided [RCV002127642] Chr19:3110276 [GRCh38]
Chr19:3110274 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-13C>T single nucleotide variant not provided [RCV002093953] Chr19:3114931 [GRCh38]
Chr19:3114929 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.912G>A (p.Ala304=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002494093]|not provided [RCV002197293] Chr19:3121011 [GRCh38]
Chr19:3121009 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.291C>G (p.Leu97=) single nucleotide variant not provided [RCV002115194] Chr19:3110303 [GRCh38]
Chr19:3110301 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.605+16C>T single nucleotide variant not provided [RCV002105014] Chr19:3115088 [GRCh38]
Chr19:3115086 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.736-5G>A single nucleotide variant not provided [RCV002116895] Chr19:3119201 [GRCh38]
Chr19:3119199 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.715C>T (p.Leu239=) single nucleotide variant not provided [RCV002211515] Chr19:3119033 [GRCh38]
Chr19:3119031 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.736-21_736-20delinsTG indel not provided [RCV002091303] Chr19:3119185..3119186 [GRCh38]
Chr19:3119183..3119184 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV002116721] Chr19:3110300 [GRCh38]
Chr19:3110298 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.633G>A (p.Ser211=) single nucleotide variant not provided [RCV002095303] Chr19:3118951 [GRCh38]
Chr19:3118949 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.501C>T (p.Ile167=) single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002498243]|not provided [RCV002213233] Chr19:3114968 [GRCh38]
Chr19:3114966 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+11C>T single nucleotide variant not provided [RCV002147966] Chr19:3119064 [GRCh38]
Chr19:3119062 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.889+7C>T single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002498225]|not provided [RCV002212835] Chr19:3119366 [GRCh38]
Chr19:3119364 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.417G>A (p.Pro139=) single nucleotide variant not provided [RCV002105173] Chr19:3113425 [GRCh38]
Chr19:3113423 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-4G>C single nucleotide variant not provided [RCV002114448] Chr19:3114940 [GRCh38]
Chr19:3114938 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+17C>T single nucleotide variant not provided [RCV002094018] Chr19:3113501 [GRCh38]
Chr19:3113499 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.549C>T (p.Arg183=) single nucleotide variant not provided [RCV002115250] Chr19:3115016 [GRCh38]
Chr19:3115014 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.255C>T (p.Thr85=) single nucleotide variant not provided [RCV002113126] Chr19:3110267 [GRCh38]
Chr19:3110265 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.736-12C>T single nucleotide variant not provided [RCV002093892] Chr19:3119194 [GRCh38]
Chr19:3119192 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.626A>G (p.Gln209Arg) single nucleotide variant not provided [RCV002254467] Chr19:3118944 [GRCh38]
Chr19:3118942 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_002067.5(GNA11):c.411G>A (p.Glu137=) single nucleotide variant not provided [RCV002203392] Chr19:3113419 [GRCh38]
Chr19:3113417 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.69C>G (p.Ala23=) single nucleotide variant not provided [RCV002101544] Chr19:3094720 [GRCh38]
Chr19:3094718 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.606-6T>C single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002507942]|not provided [RCV002081334] Chr19:3118918 [GRCh38]
Chr19:3118916 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.136+20C>T single nucleotide variant not provided [RCV002082021] Chr19:3094807 [GRCh38]
Chr19:3094805 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+13G>A single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002500126]|not provided [RCV002082055] Chr19:3113497 [GRCh38]
Chr19:3113495 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.204G>A (p.Ser68=) single nucleotide variant not provided [RCV002198605] Chr19:3110216 [GRCh38]
Chr19:3110214 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.889+14C>T single nucleotide variant Familial hypocalciuric hypercalcemia 2 [RCV002500321]|not provided [RCV002160737] Chr19:3119373 [GRCh38]
Chr19:3119371 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_002067.5(GNA11):c.732C>T (p.Asn244=) single nucleotide variant not provided [RCV002202856] Chr19:3119050 [GRCh38]
Chr19:3119048 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-11C>T single nucleotide variant not provided [RCV002140247] Chr19:3113319 [GRCh38]
Chr19:3113317 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.561C>T (p.Thr187=) single nucleotide variant not provided [RCV002083921] Chr19:3115028 [GRCh38]
Chr19:3115026 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.600C>A (p.Ile200=) single nucleotide variant not provided [RCV002120229] Chr19:3115067 [GRCh38]
Chr19:3115065 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.63C>T (p.Ile21=) single nucleotide variant not provided [RCV002121172] Chr19:3094714 [GRCh38]
Chr19:3094712 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.606-15G>A single nucleotide variant not provided [RCV003111094] Chr19:3118909 [GRCh38]
Chr19:3118907 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.889+15G>A single nucleotide variant not provided [RCV003111098] Chr19:3119374 [GRCh38]
Chr19:3119372 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.606-16C>T single nucleotide variant not provided [RCV003114131] Chr19:3118908 [GRCh38]
Chr19:3118906 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.890-16C>T single nucleotide variant not provided [RCV003116942] Chr19:3120973 [GRCh38]
Chr19:3120971 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.321+15G>A single nucleotide variant not provided [RCV003117020] Chr19:3110348 [GRCh38]
Chr19:3110346 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.331C>G (p.Leu111Val) single nucleotide variant not provided [RCV003117171] Chr19:3113339 [GRCh38]
Chr19:3113337 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.582C>T (p.Phe194_Asp195=) single nucleotide variant not provided [RCV003112948] Chr19:3115049 [GRCh38]
Chr19:3115047 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.1039A>G (p.Thr347Ala) single nucleotide variant not specified [RCV002269119] Chr19:3121138 [GRCh38]
Chr19:3121136 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.137-39C>T single nucleotide variant not specified [RCV002269112] Chr19:3110110 [GRCh38]
Chr19:3110108 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.270G>T (p.Met90Ile) single nucleotide variant not provided [RCV002293864] Chr19:3110282 [GRCh38]
Chr19:3110280 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.321+13G>A single nucleotide variant not provided [RCV003116283] Chr19:3110346 [GRCh38]
Chr19:3110344 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.605+18G>A single nucleotide variant not provided [RCV003122788] Chr19:3115090 [GRCh38]
Chr19:3115088 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+17C>A single nucleotide variant not provided [RCV003122483] Chr19:3113501 [GRCh38]
Chr19:3113499 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+46G>T single nucleotide variant not specified [RCV002269115] Chr19:3113530 [GRCh38]
Chr19:3113528 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.898C>A (p.Arg300_Asp301=) single nucleotide variant not specified [RCV002269118] Chr19:3120997 [GRCh38]
Chr19:3120995 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.*29G>C single nucleotide variant not specified [RCV002269120] Chr19:3121208 [GRCh38]
Chr19:3121206 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.137-40G>T single nucleotide variant not specified [RCV002269111] Chr19:3110109 [GRCh38]
Chr19:3110107 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-49A>C single nucleotide variant not specified [RCV002269113] Chr19:3113281 [GRCh38]
Chr19:3113279 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+36_476+50del deletion not specified [RCV002269114] Chr19:3113519..3113533 [GRCh38]
Chr19:3113517..3113531 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.889+32G>A single nucleotide variant not specified [RCV002269117] Chr19:3119391 [GRCh38]
Chr19:3119389 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+1G>A single nucleotide variant not provided [RCV002466213] Chr19:3119054 [GRCh38]
Chr19:3119052 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_002067.5(GNA11):c.321+8C>G single nucleotide variant not provided [RCV003074703] Chr19:3110341 [GRCh38]
Chr19:3110339 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.435C>T (p.Tyr145_Asp146=) single nucleotide variant not provided [RCV003095503] Chr19:3113443 [GRCh38]
Chr19:3113441 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.137-41G>T single nucleotide variant not specified [RCV002269110] Chr19:3110108 [GRCh38]
Chr19:3110106 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.447C>T (p.Arg149_Glu150=) single nucleotide variant not provided [RCV002858490] Chr19:3113455 [GRCh38]
Chr19:3113453 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.476+8C>T single nucleotide variant not provided [RCV002615147] Chr19:3113492 [GRCh38]
Chr19:3113490 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.321+10C>T single nucleotide variant not provided [RCV003097646] Chr19:3110343 [GRCh38]
Chr19:3110341 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.321+11G>A single nucleotide variant not provided [RCV002614651] Chr19:3110344 [GRCh38]
Chr19:3110342 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.322-19C>G single nucleotide variant not provided [RCV002731567] Chr19:3113311 [GRCh38]
Chr19:3113309 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.*263C>G single nucleotide variant not provided [RCV002511910] Chr19:3121442 [GRCh38]
Chr19:3121440 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.898C>T (p.Arg300Trp) single nucleotide variant Inborn genetic diseases [RCV003088943]|not provided [RCV003095843] Chr19:3120997 [GRCh38]
Chr19:3120995 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.345G>C (p.Glu115Asp) single nucleotide variant not provided [RCV002800301] Chr19:3113353 [GRCh38]
Chr19:3113351 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.487G>A (p.Asp163Asn) single nucleotide variant not provided [RCV003095333] Chr19:3114954 [GRCh38]
Chr19:3114952 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.9G>T (p.Leu3_Glu4=) single nucleotide variant not provided [RCV003097606] Chr19:3094660 [GRCh38]
Chr19:3094658 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.*240C>G single nucleotide variant not provided [RCV002511909] Chr19:3121419 [GRCh38]
Chr19:3121417 [GRCh37]
Chr19:19p13.3		 benign
NM_002067.5(GNA11):c.16A>G (p.Met6Val) single nucleotide variant not provided [RCV003055757] Chr19:3094667 [GRCh38]
Chr19:3094665 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.605+9C>T single nucleotide variant not provided [RCV003080953] Chr19:3115081 [GRCh38]
Chr19:3115079 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+10G>T single nucleotide variant not provided [RCV002781315] Chr19:3119063 [GRCh38]
Chr19:3119061 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.835C>G (p.Leu279Val) single nucleotide variant Inborn genetic diseases [RCV002781645] Chr19:3119305 [GRCh38]
Chr19:3119303 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.885C>G (p.Phe295Leu) single nucleotide variant not provided [RCV003036466] Chr19:3119355 [GRCh38]
Chr19:3119353 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.975C>T (p.Tyr325_Ser326=) single nucleotide variant not provided [RCV002701472] Chr19:3121074 [GRCh38]
Chr19:3121072 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.203C>T (p.Ser68Leu) single nucleotide variant not provided [RCV002619760] Chr19:3110215 [GRCh38]
Chr19:3110213 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.618G>A (p.Val206_Gly207=) single nucleotide variant not provided [RCV002690713] Chr19:3118936 [GRCh38]
Chr19:3118934 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.300C>T (p.Leu100_Tyr101=) single nucleotide variant not provided [RCV002619456] Chr19:3110312 [GRCh38]
Chr19:3110310 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.629G>A (p.Arg210Gln) single nucleotide variant not provided [RCV002795730] Chr19:3118947 [GRCh38]
Chr19:3118945 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.766C>T (p.Arg256Trp) single nucleotide variant not provided [RCV002592138] Chr19:3119236 [GRCh38]
Chr19:3119234 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.1038C>T (p.Asp346_Thr347=) single nucleotide variant not provided [RCV002623796] Chr19:3121137 [GRCh38]
Chr19:3121135 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.804C>T (p.Ser268_Val269=) single nucleotide variant not provided [RCV003085071] Chr19:3119274 [GRCh38]
Chr19:3119272 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.978dup (p.His327fs) duplication not provided [RCV002766292] Chr19:3121076..3121077 [GRCh38]
Chr19:3121074..3121075 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.794A>G (p.Gln265Arg) single nucleotide variant not provided [RCV002800678] Chr19:3119264 [GRCh38]
Chr19:3119262 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.88C>T (p.Arg30Trp) single nucleotide variant not provided [RCV002851853] Chr19:3094739 [GRCh38]
Chr19:3094737 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.486C>T (p.Thr162_Asp163=) single nucleotide variant not provided [RCV002957184] Chr19:3114953 [GRCh38]
Chr19:3114951 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+10dup duplication not provided [RCV003041023] Chr19:3119062..3119063 [GRCh38]
Chr19:3119060..3119061 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.823AAG[3] (p.Lys276_Asp277insLys) microsatellite not provided [RCV002872540] Chr19:3119292..3119293 [GRCh38]
Chr19:3119290..3119291 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.605+19C>G single nucleotide variant not provided [RCV002663479] Chr19:3115091 [GRCh38]
Chr19:3115089 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.326A>G (p.Asn109Ser) single nucleotide variant not provided [RCV003084917] Chr19:3113334 [GRCh38]
Chr19:3113332 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.321+17_321+18delinsTG indel not provided [RCV002646122] Chr19:3110350..3110351 [GRCh38]
Chr19:3110348..3110349 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.93G>A (p.Arg31_Asp32=) single nucleotide variant not provided [RCV003090473] Chr19:3094744 [GRCh38]
Chr19:3094742 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.49G>T (p.Glu17Ter) single nucleotide variant not provided [RCV003011047] Chr19:3094700 [GRCh38]
Chr19:3094698 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.322-16C>T single nucleotide variant not provided [RCV003031876] Chr19:3113314 [GRCh38]
Chr19:3113312 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.126G>A (p.Leu42_Leu43=) single nucleotide variant not provided [RCV002581799] Chr19:3094777 [GRCh38]
Chr19:3094775 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.911C>T (p.Ala304Val) single nucleotide variant not provided [RCV002581600] Chr19:3121010 [GRCh38]
Chr19:3121008 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.248T>C (p.Ile83Thr) single nucleotide variant not provided [RCV002720538] Chr19:3110260 [GRCh38]
Chr19:3110258 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.900G>A (p.Arg300_Asp301=) single nucleotide variant not provided [RCV002581707] Chr19:3120999 [GRCh38]
Chr19:3120997 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.1065G>A (p.Glu355_Tyr356=) single nucleotide variant not provided [RCV002628100] Chr19:3121164 [GRCh38]
Chr19:3121162 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.971T>C (p.Ile324Thr) single nucleotide variant not provided [RCV002716232] Chr19:3121070 [GRCh38]
Chr19:3121068 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.916C>T (p.Arg306Trp) single nucleotide variant not provided [RCV002715260] Chr19:3121015 [GRCh38]
Chr19:3121013 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.784C>T (p.Pro262Ser) single nucleotide variant not provided [RCV002585015] Chr19:3119254 [GRCh38]
Chr19:3119252 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.957C>T (p.Asp319_Ser320=) single nucleotide variant not provided [RCV002584877] Chr19:3121056 [GRCh38]
Chr19:3121054 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.606-2A>G single nucleotide variant not provided [RCV002605339] Chr19:3118922 [GRCh38]
Chr19:3118920 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.777C>T (p.Ile259_Thr260=) single nucleotide variant not provided [RCV003088753] Chr19:3119247 [GRCh38]
Chr19:3119245 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.735+20G>A single nucleotide variant not provided [RCV002583333] Chr19:3119073 [GRCh38]
Chr19:3119071 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.476+10del deletion not provided [RCV002942366] Chr19:3113493 [GRCh38]
Chr19:3113491 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.177G>A (p.Met59Ile) single nucleotide variant not provided [RCV002606426] Chr19:3110189 [GRCh38]
Chr19:3110187 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_002067.5(GNA11):c.322-4G>A single nucleotide variant not provided [RCV002588655] Chr19:3113326 [GRCh38]
Chr19:3113324 [GRCh37]
Chr19:19p13.3		 likely benign
NM_002067.5(GNA11):c.477-16C>T single nucleotide variant not provided [RCV002680897] Chr19:3114928 [GRCh38]
Chr19:3114926 [GRCh37]
Chr19:19p13.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2996
Count of miRNA genes:1006
Interacting mature miRNAs:1257
Transcripts:ENST00000078429, ENST00000586180, ENST00000586763, ENST00000587636, ENST00000588401, ENST00000590534, ENST00000591301
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.

Markers in Region
RH79805  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37765,967,403 - 65,967,590UniSTSGRCh37
GRCh37193,123,741 - 3,123,934UniSTSGRCh37
Build 36765,604,838 - 65,605,025RGDNCBI36
Celera193,057,991 - 3,058,184UniSTS
Celera766,148,549 - 66,148,736RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,890,367 - 2,890,560UniSTS
HuRef762,151,531 - 62,151,718UniSTS
CRA_TCAGchr7v2765,304,897 - 65,305,084UniSTS
RH47293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,123,821 - 3,123,993UniSTSGRCh37
Build 36193,074,821 - 3,074,993RGDNCBI36
Celera193,058,071 - 3,058,243RGD
Cytogenetic Map19p13.3UniSTS
HuRef192,890,447 - 2,890,619UniSTS
GeneMap99-GB4 RH Map1932.22UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2192 1613 518 555 360 4353 2164 3630 399 1439 1599 171 1204 2788 4
Low 9 726 113 106 1295 105 3 31 104 20 21 14 4 1 2 2
Below cutoff 73 95 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF493900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY118575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M69013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OU666877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000078429   ⟹   ENSP00000078429
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,094,362 - 3,123,999 (+)Ensembl
RefSeq Acc Id: ENST00000586180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,118,696 - 3,121,319 (+)Ensembl
RefSeq Acc Id: ENST00000586763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,094,649 - 3,115,003 (+)Ensembl
RefSeq Acc Id: ENST00000587636   ⟹   ENSP00000465935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,113,463 - 3,121,457 (+)Ensembl
RefSeq Acc Id: ENST00000588401   ⟹   ENSP00000479797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,114,947 - 3,115,428 (+)Ensembl
RefSeq Acc Id: ENST00000590534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,117,150 - 3,121,454 (+)Ensembl
RefSeq Acc Id: ENST00000591301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl193,118,813 - 3,119,353 (+)Ensembl
RefSeq Acc Id: NM_002067   ⟹   NP_002058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,094,362 - 3,123,999 (+)NCBI
GRCh37193,094,408 - 3,121,468 (+)ENTREZGENE
Build 36193,045,408 - 3,072,468 (+)NCBI Archive
HuRef192,861,199 - 2,890,626 (+)NCBI
CHM1_1193,094,549 - 3,123,961 (+)NCBI
T2T-CHM13v2.0193,068,114 - 3,097,735 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002058   ⟸   NM_002067
- UniProtKB: Q6IB00 (UniProtKB/Swiss-Prot),   P29992 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000465935   ⟸   ENST00000587636
RefSeq Acc Id: ENSP00000479797   ⟸   ENST00000588401
RefSeq Acc Id: ENSP00000078429   ⟸   ENST00000078429
Protein Domains
G-alpha

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P29992-F1-model_v2 AlphaFold P29992 1-359 view protein structure

Promoters
RGD ID:6795604
Promoter ID:HG_KWN:28503
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_002067
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,045,004 - 3,045,504 (+)MPROMDB
RGD ID:7237991
Promoter ID:EPDNEW_H24741
Type:initiation region
Name:GNA11_1
Description:G protein subunit alpha 11
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
GRCh38193,094,362 - 3,094,422EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4379 AgrOrtholog
COSMIC GNA11 COSMIC
Ensembl Genes ENSG00000088256 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000078429 ENTREZGENE
  ENSP00000078429.3 UniProtKB/Swiss-Prot
  ENSP00000465935.1 UniProtKB/TrEMBL
  ENSP00000479797.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000078429 ENTREZGENE
  ENST00000078429.9 UniProtKB/Swiss-Prot
  ENST00000587636.1 UniProtKB/TrEMBL
  ENST00000588401.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000088256 GTEx
HGNC ID HGNC:4379 ENTREZGENE
Human Proteome Map GNA11 Human Proteome Map
InterPro Gprotein_alpha_Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gprotein_alpha_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GproteinA_insert UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2767 UniProtKB/Swiss-Prot
NCBI Gene 2767 ENTREZGENE
OMIM 139313 OMIM
PANTHER GUANINE NUCLEOTIDE-BINDING PROTEIN SUBUNIT ALPHA-11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10218 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G-alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28764 PharmGKB
PRINTS GPROTEINA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPROTEINAQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_alpha UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVZ3_HUMAN UniProtKB/TrEMBL
  GNA11_HUMAN UniProtKB/Swiss-Prot
  K7EL62_HUMAN UniProtKB/TrEMBL
  P29992 ENTREZGENE
  Q6IB00 ENTREZGENE
UniProt Secondary O15109 UniProtKB/Swiss-Prot
  Q14350 UniProtKB/Swiss-Prot
  Q6IB00 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 GNA11  G protein subunit alpha 11  HHC2  hypocalciuric hypercalcemia 2  Data Merged 737654 PROVISIONAL
2016-03-14 GNA11  G protein subunit alpha 11    guanine nucleotide binding protein (G protein), alpha 11 (Gq class)  Symbol and/or name change 5135510 APPROVED