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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term GNAQ:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000156052	GNAQ	0	0	2	ENSG00000156052	ENST00000286548	ENSP00000286548	guanine nucleotide binding protein (G protein), q polypeptide [Source:HGNC Symbol;Acc:4390]	9	80331003	80646374	-1	q21.2	80331003	80646374	GNAQ	GNAQ-001	HGNC Symbol	HGNC transcript name	3	39.13	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2776	4390	GNAQ	NM_002072	27518

MSeqDR Master Exome Data Set M1: 85 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	9	80331012	G	-T	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
2	9	80331012	G	+T	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	71
3	9	80331012	G	+TT	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	9	80331534	T	C	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	9	80331796	C	-AT	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	2
6	9	80331915	A	G	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	9	80332309	C	T	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs41310079	-	-	-	-	-	-	het	2
8	9	80332552	G	A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs10021	0.0289	-	lod=481:629	-	-	-	het	14
9	9	80332647	C	+A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	27
10	9	80332647	C	-A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs200798638	-	-	-	-	-	-	het	8
11	9	80332673	G	A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs193157362	0.0015	-	lod=102:463	-	-	-	het	1
12	9	80332731	T	C	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs141891782	0.0149	-	lod=102:463	-	-	-	hom	2
13	9	80332940	T	C	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	lod=511:636	-	-	-	het	1
14	9	80333100	A	G	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	9	80333166	C	T	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs74472483	-	-	-	-	-	-	het	16
16	9	80333407	G	A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs11546845	0.67208	-	lod=115:476	-	-	-	hom	81
17	9	80333407	G	A	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	rs11546845	0.67208	-	lod=115:476	-	-	-	het	91
18	9	80333479	C	-T	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	lod=53:393	-	-	-	het	1
19	9	80333642	A	+TT	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	9	80333642	A	+TTT	ENST00000286548	ENSG00000156052	80331003	80646374	ENSP00000286548	GNAQ	-1	GNAQ_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding GNAQ 9:80331003..80646374 region Gbrowse