chr9:80331013:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr9:80,331,013-80,646,727
hg38 chr9:77,716,097-78,031,811 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 Conjunctival Neoplasms NA GAD Detail
<0.001 External exotoses NA BeFree Detail
0.120 Focal glomerulosclerosis NA CTD_human Detail
0.120 congenital heart defects NA CTD_human Detail
0.003 Heart failure NA BeFree,GAD Detail
<0.001 congestive heart failure NA BeFree Detail
0.003 Hemorrhagic Disorders NA LHGDN Detail
<0.001 HIV Infections NA BeFree Detail
0.138 melanoma GNAQ mutation in a patient with metastatic mucosal melanoma. BeFree,CTD_human,GAD,LHGDN 25030020 Detail
0.138 melanoma Low mutational burden of eight genes involved in the MAPK/ERK, PI3K/AKT, and GNA... BeFree,CTD_human,GAD,LHGDN 25695059 Detail
0.138 melanoma Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melano... BeFree,CTD_human,GAD,LHGDN 26113083 Detail
0.002 Melanosis NA GAD Detail
<0.001 Monosomy Our study confirms the previously reported GNAQ and GNA11 mutation frequencies i... BeFree 25756553 Detail
<0.001 Monosomy Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progr... BeFree 25764247 Detail
0.001 Neoplasm Metastasis In Kaplan-Meier analysis, metastasis-free survival was not significantly (P = 0.... BeFree 25280020 Detail
0.002 Nevus NA GAD Detail
0.002 Melanocytic nevus NA GAD Detail
0.003 obesity NA BeFree,GAD Detail
0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 Ovarian Diseases NA BeFree Detail
<0.001 polycystic ovary syndrome NA BeFree Detail
<0.001 Prader-Willi syndrome A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the... BeFree 25188413 Detail
0.481 Sturge-Weber syndrome A somatic GNAQ mutation was recently identified in patients with sporadic PWSs a... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25188413 Detail
0.481 Sturge-Weber syndrome The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Web... BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT 25374402 Detail
<0.001 telangiectasis NA BeFree Detail
0.002 Thyroid Diseases NA GAD Detail
0.007 Uveal Neoplasms NA GAD Detail
0.003 Left Ventricular Hypertrophy NA LHGDN Detail
<0.001 Cutaneous Melanoma NA BeFree Detail
<0.001 Intervertebral Disc Degeneration NA BeFree Detail
<0.001 Tumor Progression Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progr... BeFree 25764247 Detail
0.004 Nevus, Blue NA BeFree,GAD Detail
<0.001 Epithelioid and spindle cell nevus NA BeFree Detail
0.130 uveal melanoma The majority of uveal melanomas carry oncogenic mutations in the G proteins GNAQ... BeFree,CTD_human 24899684 Detail
0.130 uveal melanoma These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen a... BeFree,CTD_human 25030020 Detail
0.130 uveal melanoma Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese. BeFree,CTD_human 25280020 Detail
0.130 uveal melanoma GNAQ and GNA11 mutations in uveal melanoma. BeFree,CTD_human 25304237 Detail
0.130 uveal melanoma Detection of GNAQ mutations and reduction of cell viability in uveal melanoma ce... BeFree,CTD_human 25653058 Detail
0.130 uveal melanoma Our study confirms the previously reported GNAQ and GNA11 mutation frequencies i... BeFree,CTD_human 25756553 Detail
0.130 uveal melanoma Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progr... BeFree,CTD_human 25764247 Detail
0.130 uveal melanoma Oncogenic G Protein GNAQ Induces Uveal Melanoma and Intravasation in Mice. BeFree,CTD_human 26113083 Detail
0.240 Port-Wine Stain NA BeFree,CTD_human,ORPHANET Detail
<0.001 Metastatic melanoma NA BeFree Detail
<0.001 Cellular Blue Nevus NA BeFree Detail
<0.001 Primary melanocytic lesion of meninges NA BeFree Detail
0.120 Craniofacial Abnormalities NA CTD_human Detail
<0.001 Hereditary benign telangiectasia (disorder) NA BeFree Detail
<0.001 Malignant melanoma of eye NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Melanocytic neoplasm The mouse model also exhibited dermal nevi and melanocytic neoplasms of the cent... BeFree 26113083 Detail
<0.001 melanotic neurilemmoma NA BeFree Detail
<0.001 Osteophyte NA BeFree Detail
<0.001 aggressive cancer GNAQ and GNA11 are heterotrimeric G protein alpha subunits, which are mutated in... BeFree 26113083 Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.120 Albuminuria NA CTD_human Detail
0.120 Blood Coagulation Disorders NA CTD_human Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
GNAQ mutation in a patient with metastatic mucosal melanoma. DisGeNET Detail
Low mutational burden of eight genes involved in the MAPK/ERK, PI3K/AKT, and GNAQ/11 pathways in fem... DisGeNET Detail
Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the inter... DisGeNET Detail
NA DisGeNET Detail
Our study confirms the previously reported GNAQ and GNA11 mutation frequencies in UMs as well as the... DisGeNET Detail
Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progression is correlated... DisGeNET Detail
In Kaplan-Meier analysis, metastasis-free survival was not significantly (P = 0.94) associated with ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue... DisGeNET Detail
A somatic GNAQ mutation was recently identified in patients with sporadic PWSs and Sturge-Weber synd... DisGeNET Detail
The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progression is correlated... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The majority of uveal melanomas carry oncogenic mutations in the G proteins GNAQ and GNA11, with con... DisGeNET Detail
These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen at a high frequency i... DisGeNET Detail
Oncogenic GNAQ and GNA11 mutations in uveal melanoma in Chinese. DisGeNET Detail
GNAQ and GNA11 mutations in uveal melanoma. DisGeNET Detail
Detection of GNAQ mutations and reduction of cell viability in uveal melanoma cells with functionali... DisGeNET Detail
Our study confirms the previously reported GNAQ and GNA11 mutation frequencies in UMs as well as the... DisGeNET Detail
Recurrent mutations in GNAQ and GNA11 initiate UM development while tumour progression is correlated... DisGeNET Detail
Oncogenic G Protein GNAQ Induces Uveal Melanoma and Intravasation in Mice. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The mouse model also exhibited dermal nevi and melanocytic neoplasms of the central nervous system, ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
GNAQ and GNA11 are heterotrimeric G protein alpha subunits, which are mutated in a mutually exclusiv... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr9:80,331,013-80,646,727
Variant Type
snv
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