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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 CMC1:

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
ENSG00000187118	CMC1	1	0	0	ENSG00000187118	ENST00000477739		C-x(9)-C motif containing 1 [Source:HGNC Symbol;Acc:28783]	3	28283075	28366633	1	p24.1	28283075	28361253	CMC1	CMC1-001	HGNC Symbol	HGNC transcript name	11	35.93	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	152100	28783	CMC1		27517

MSeqDR Master Exome Data Set M1: 112 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	3	28283101	G	A	ENST00000466830	ENSG00000187118	28283075	28366633	ENSP00000418348	CMC1	1	COXM1_HUMAN	-	-	5'_UTR	NA	-	-	lod=22:300	-	-	-	het	31
2	3	28283101	G	A	ENST00000477739	ENSG00000187118	28283075	28366633	-	CMC1	1	-	c.27G>A	p.A9A	syn	NA	-	-	lod=22:300	-	-	-	het	31
3	3	28283145	G	T	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	3	28283145	G	T	ENST00000423894	ENSG00000187118	28283075	28366633	ENSP00000404581	CMC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	3	28283145	G	T	ENST00000466830	ENSG00000187118	28283075	28366633	ENSP00000418348	CMC1	1	COXM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	3	28283145	G	T	ENST00000477739	ENSG00000187118	28283075	28366633	-	CMC1	1	-	c.71G>T	p.C24F	non-syn	NA	-	-	-	-	-	-	het	1
7	3	28283160	C	G	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	rs111337257	0.0061	-	-	-	-	-	het	2
8	3	28283160	C	G	ENST00000423894	ENSG00000187118	28283075	28366633	ENSP00000404581	CMC1	1	-	-	-	5'_UTR	rs111337257	0.0061	-	-	-	-	-	het	2
9	3	28283160	C	G	ENST00000466830	ENSG00000187118	28283075	28366633	ENSP00000418348	CMC1	1	COXM1_HUMAN	-	-	5'_UTR	rs111337257	0.0061	-	-	-	-	-	het	2
10	3	28283160	C	G	ENST00000477739	ENSG00000187118	28283075	28366633	-	CMC1	1	-	c.86C>G	p.P29R	non-syn	rs111337257	0.0061	-	-	-	-	-	het	2
11	3	28283184	C	+G	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	rs147949424	-	-	-	-	-	-	het	4
12	3	28283184	C	+G	ENST00000423894	ENSG00000187118	28283075	28366633	ENSP00000404581	CMC1	1	-	-	-	5'_UTR	rs147949424	-	-	-	-	-	-	het	4
13	3	28283184	C	+G	ENST00000466830	ENSG00000187118	28283075	28366633	ENSP00000418348	CMC1	1	COXM1_HUMAN	-	-	5'_UTR	rs147949424	-	-	-	-	-	-	het	4
14	3	28283184	C	+G	ENST00000477739	ENSG00000187118	28283075	28366633	-	CMC1	1	-	c.110_111insG	p.P37NA	non-syn	rs147949424	-	-	-	-	-	-	het	4
15	3	28283187	G	A	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	3	28283187	G	A	ENST00000423894	ENSG00000187118	28283075	28366633	ENSP00000404581	CMC1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	3	28283187	G	A	ENST00000466830	ENSG00000187118	28283075	28366633	ENSP00000418348	CMC1	1	COXM1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	3	28283187	G	A	ENST00000477739	ENSG00000187118	28283075	28366633	-	CMC1	1	-	c.113G>A	p.G38E	non-syn	NA	-	-	-	-	-	-	het	1
19	3	28283200	G	A	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	rs140383896	0.0015	-	-	-	-	-	hom	2
20	3	28283200	G	A	ENST00000334841	ENSG00000187118	28283075	28366633	ENSP00000334960	CMC1	1	-	-	-	5'_UTR	rs140383896	0.0015	-	-	-	-	-	het	9

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CMC1 3:28283075..28366633 region Gbrowse