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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 CHKB:

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
ENSG00000100288	CHKB	1	41	0	ENSG00000100288	ENST00000406938	ENSP00000384400	choline kinase beta [Source:HGNC Symbol;Acc:1938]	22	51017378	51039884	-1	q13.33	51017378	51021428	CHKB	CHKB-001	HGNC Symbol	HGNC transcript name	12	50.66	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1120	1938	CHKB	NM_005198	27510

MSeqDR Master Exome Data Set M1: 240 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	22	51017394	G	C	ENST00000406938	ENSG00000100288	51017378	51039884	ENSP00000384400	CHKB	-1	CHKB_HUMAN	-	-	3'_UTR	rs3180872	0.2518	-	-	-	-	-	hom	8
2	22	51017394	G	C	ENST00000406938	ENSG00000100288	51017378	51039884	ENSP00000384400	CHKB	-1	CHKB_HUMAN	-	-	3'_UTR	rs3180872	0.2518	-	-	-	-	-	het	114
3	22	51017394	G	C	ENST00000464225	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.622C>G	p.P208A	non-syn	rs3180872	0.2518	-	-	-	-	-	hom	8
4	22	51017394	G	C	ENST00000464225	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.622C>G	p.P208A	non-syn	rs3180872	0.2518	-	-	-	-	-	het	114
5	22	51017394	G	C	ENST00000471515	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.655C>G	p.P219A	non-syn	rs3180872	0.2518	-	-	-	-	-	hom	8
6	22	51017394	G	C	ENST00000471515	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.655C>G	p.P219A	non-syn	rs3180872	0.2518	-	-	-	-	-	het	114
7	22	51017394	G	C	ENST00000481673	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1854C>G	p.S618S	syn	rs3180872	0.2518	-	-	-	-	-	hom	8
8	22	51017394	G	C	ENST00000481673	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1854C>G	p.S618S	syn	rs3180872	0.2518	-	-	-	-	-	het	114
9	22	51017394	G	C	ENST00000484266	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1399C>G	p.P467A	non-syn	rs3180872	0.2518	-	-	-	-	-	hom	8
10	22	51017394	G	C	ENST00000484266	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1399C>G	p.P467A	non-syn	rs3180872	0.2518	-	-	-	-	-	het	114
11	22	51017394	G	C	ENST00000492582	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.2063C>G	p.P688R	non-syn	rs3180872	0.2518	-	-	-	-	-	hom	8
12	22	51017394	G	C	ENST00000492582	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.2063C>G	p.P688R	non-syn	rs3180872	0.2518	-	-	-	-	-	het	114
13	22	51017402	A	C	ENST00000406938	ENSG00000100288	51017378	51039884	ENSP00000384400	CHKB	-1	CHKB_HUMAN	-	-	3'_UTR	rs41281533	0.0059	-	-	-	-	-	het	6
14	22	51017402	A	C	ENST00000464225	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.614T>G	p.F205C	non-syn	rs41281533	0.0059	-	-	-	-	-	het	6
15	22	51017402	A	C	ENST00000471515	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.647T>G	p.F216C	non-syn	rs41281533	0.0059	-	-	-	-	-	het	6
16	22	51017402	A	C	ENST00000479003	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.2107T>G	p.S703A	non-syn	rs41281533	0.0059	-	-	-	-	-	het	6
17	22	51017402	A	C	ENST00000481673	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1846T>G	p.S616A	non-syn	rs41281533	0.0059	-	-	-	-	-	het	6
18	22	51017402	A	C	ENST00000484266	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.1391T>G	p.F464C	non-syn	rs41281533	0.0059	-	-	-	-	-	het	6
19	22	51017402	A	C	ENST00000492582	ENSG00000100288	51017378	51039884	-	CHKB	-1	-	c.2055T>G	p.L685L	syn	rs41281533	0.0059	-	-	-	-	-	het	6
20	22	51017476	A	G	ENST00000406938	ENSG00000100288	51017378	51039884	ENSP00000384400	CHKB	-1	CHKB_HUMAN	-	-	3'_UTR	rs1056964	0.2822	-	-	-	-	-	het	117

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CHKB 22:51017378..51039884 region Gbrowse