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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 GJB2:

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
ENSG00000165474	GJB2	1	159	145	ENSG00000165474	ENST00000382848	ENSP00000372299	gap junction protein, beta 2, 26kDa [Source:HGNC Symbol;Acc:4284]	13	20761609	20767037	-1	q12.11	20761609	20767037	GJB2	GJB2-001	HGNC Symbol	HGNC transcript name	2	49.22	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2706	4284	GJB2	NM_004004	27513

MSeqDR Master Exome Data Set M1: 100 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	13	20761763	A	G	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7988691	0.99811	-	-	-	-	-	hom	656
2	13	20761763	A	G	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7988691	0.99811	-	-	-	-	-	hom	656
3	13	20761843	A	T	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs11841182	0.0737	-	-	-	-	-	het	3
4	13	20761843	A	T	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs11841182	0.0737	-	-	-	-	-	het	3
5	13	20761888	C	T	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7623	0.93959	-	-	-	-	-	het	49
6	13	20761888	C	T	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7623	0.93959	-	-	-	-	-	hom	605
7	13	20761888	C	T	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7623	0.93959	-	-	-	-	-	het	49
8	13	20761888	C	T	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs7623	0.93959	-	-	-	-	-	hom	605
9	13	20761973	C	A	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs9237	0.91405	-	-	-	-	-	het	77
10	13	20761973	C	A	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs9237	0.91405	-	-	-	-	-	hom	576
11	13	20761973	C	A	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs9237	0.91405	-	-	-	-	-	het	77
12	13	20761973	C	A	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs9237	0.91405	-	-	-	-	-	hom	576
13	13	20762024	T	C	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	13
14	13	20762024	T	C	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	13
15	13	20762109	G	A	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs5030700	0.05978	-	-	-	-	-	hom	1
16	13	20762109	G	A	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs5030700	0.05978	-	-	-	-	-	het	50
17	13	20762109	G	A	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs5030700	0.05978	-	-	-	-	-	hom	1
18	13	20762109	G	A	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	rs5030700	0.05978	-	-	-	-	-	het	50
19	13	20762442	G	T	ENST00000382844	ENSG00000165474	20761609	20767037	ENSP00000372295	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	13	20762442	G	T	ENST00000382848	ENSG00000165474	20761609	20767037	ENSP00000372299	GJB2	-1	CXB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding GJB2 13:20761609..20767037 region Gbrowse