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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 ACTB:

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
ENSG00000075624	ACTB	0	0	26	ENSG00000075624	ENST00000464611		actin, beta [Source:HGNC Symbol;Acc:132]	7	5566782	5603415	-1	p22.1	5566782	5567729	ACTB	ACTB-013	HGNC Symbol	HGNC transcript name	13	56.7	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	60	132	ACTB		27506

MSeqDR Master Exome Data Set M1: 244 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	7	5566926	G	C	ENST00000331789	ENSG00000075624	5566782	5603415	ENSP00000349960	ACTB	-1	ACTB_HUMAN	-	-	3'_UTR	rs3210032	0.02157	-	lod=288:574	-	-	-	het	11
2	7	5566926	G	C	ENST00000331789	ENSG00000075624	5566782	5603415	ENSP00000349960	ACTB	-1	ACTB_HUMAN	-	-	3'_UTR	rs3210032	0.02157	-	lod=288:574	-	-	-	hom	2
3	7	5566926	G	C	ENST00000425660	ENSG00000075624	5566782	5603415	ENSP00000409264	ACTB	-1	-	-	-	3'_UTR	rs3210032	0.02157	-	lod=288:574	-	-	-	het	11
4	7	5566926	G	C	ENST00000425660	ENSG00000075624	5566782	5603415	ENSP00000409264	ACTB	-1	-	-	-	3'_UTR	rs3210032	0.02157	-	lod=288:574	-	-	-	hom	2
5	7	5566926	G	C	ENST00000462494	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.2106C>G	p.S702R	non-syn	rs3210032	0.02157	-	lod=288:574	-	-	-	het	11
6	7	5566926	G	C	ENST00000462494	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.2106C>G	p.S702R	non-syn	rs3210032	0.02157	-	lod=288:574	-	-	-	hom	2
7	7	5566926	G	C	ENST00000464611	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.571C>G	p.P191A	non-syn	rs3210032	0.02157	-	lod=288:574	-	-	-	het	11
8	7	5566926	G	C	ENST00000464611	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.571C>G	p.P191A	non-syn	rs3210032	0.02157	-	lod=288:574	-	-	-	hom	2
9	7	5566967	C	A	ENST00000331789	ENSG00000075624	5566782	5603415	ENSP00000349960	ACTB	-1	ACTB_HUMAN	-	-	3'_UTR	NA	-	-	lod=288:574	-	-	-	hom	1
10	7	5566967	C	A	ENST00000425660	ENSG00000075624	5566782	5603415	ENSP00000409264	ACTB	-1	-	-	-	3'_UTR	NA	-	-	lod=288:574	-	-	-	hom	1
11	7	5566967	C	A	ENST00000462494	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.2065G>T	p.A689S	non-syn	NA	-	-	lod=288:574	-	-	-	hom	1
12	7	5566967	C	A	ENST00000464611	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.530G>T	p.R177L	non-syn	NA	-	-	lod=288:574	-	-	-	hom	1
13	7	5567020	C	T	ENST00000331789	ENSG00000075624	5566782	5603415	ENSP00000349960	ACTB	-1	ACTB_HUMAN	-	-	3'_UTR	rs138738998	0.00465	-	-	-	-	-	het	7
14	7	5567020	C	T	ENST00000425660	ENSG00000075624	5566782	5603415	ENSP00000409264	ACTB	-1	-	-	-	3'_UTR	rs138738998	0.00465	-	-	-	-	-	het	7
15	7	5567020	C	T	ENST00000462494	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.2012G>A	p.G671D	non-syn	rs138738998	0.00465	-	-	-	-	-	het	7
16	7	5567020	C	T	ENST00000464611	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.477G>A	p.R159R	syn	rs138738998	0.00465	-	-	-	-	-	het	7
17	7	5567104	T	C	ENST00000331789	ENSG00000075624	5566782	5603415	ENSP00000349960	ACTB	-1	ACTB_HUMAN	-	-	3'_UTR	NA	-	-	lod=287:574	-	-	-	het	1
18	7	5567104	T	C	ENST00000425660	ENSG00000075624	5566782	5603415	ENSP00000409264	ACTB	-1	-	-	-	3'_UTR	NA	-	-	lod=287:574	-	-	-	het	1
19	7	5567104	T	C	ENST00000462494	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.1928A>G	p.Q643R	non-syn	NA	-	-	lod=287:574	-	-	-	het	1
20	7	5567104	T	C	ENST00000464611	ENSG00000075624	5566782	5603415	-	ACTB	-1	-	c.393A>G	p.T131T	syn	NA	-	-	lod=287:574	-	-	-	het	1

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Transcripts and variants in the surrounding ACTB 7:5566782..5603415 region Gbrowse