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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 COL6A3:

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
ENSG00000163359	COL6A3	1	2	226	ENSG00000163359	ENST00000473258		collagen, type VI, alpha 3 [Source:HGNC Symbol;Acc:2213]	2	238232646	238323018	-1	q37.3	238232646	238238823	COL6A3	COL6A3-005	HGNC Symbol	HGNC transcript name	15	44.57	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1293	2213	COL6A3		27508

MSeqDR Master Exome Data Set M1: 1661 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	2	238232733	C	-CCCT	ENST00000295550	ENSG00000163359	238232646	238323018	ENSP00000295550	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	2	238232733	C	-CCCT	ENST00000347401	ENSG00000163359	238232646	238323018	ENSP00000315609	COL6A3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	2	238232733	C	-CCCT	ENST00000353578	ENSG00000163359	238232646	238323018	ENSP00000315873	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	2	238232733	C	-CCCT	ENST00000472056	ENSG00000163359	238232646	238323018	ENSP00000418285	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	2	238232733	C	-CCCT	ENST00000473258	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.5342_5345del	p.G1782NA	non-syn	NA	-	-	-	-	-	-	het	3
6	2	238232733	C	-CCCT	ENST00000491769	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.6656_6659del	p.G2220NA	non-syn	NA	-	-	-	-	-	-	het	3
7	2	238232750	C	+A	ENST00000295550	ENSG00000163359	238232646	238323018	ENSP00000295550	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
8	2	238232750	C	+A	ENST00000347401	ENSG00000163359	238232646	238323018	ENSP00000315609	COL6A3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
9	2	238232750	C	+A	ENST00000353578	ENSG00000163359	238232646	238323018	ENSP00000315873	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
10	2	238232750	C	+A	ENST00000472056	ENSG00000163359	238232646	238323018	ENSP00000418285	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
11	2	238232750	C	+A	ENST00000473258	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.5328_5329insT	p.V1777NA	non-syn	NA	-	-	-	-	-	-	het	6
12	2	238232750	C	+A	ENST00000491769	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.6642_6643insT	p.V2215NA	non-syn	NA	-	-	-	-	-	-	het	6
13	2	238232751	A	-C	ENST00000295550	ENSG00000163359	238232646	238323018	ENSP00000295550	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	rs200357374	-	-	-	-	-	-	het	25
14	2	238232751	A	-C	ENST00000347401	ENSG00000163359	238232646	238323018	ENSP00000315609	COL6A3	-1	-	-	-	3'_UTR	rs200357374	-	-	-	-	-	-	het	25
15	2	238232751	A	-C	ENST00000353578	ENSG00000163359	238232646	238323018	ENSP00000315873	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	rs200357374	-	-	-	-	-	-	het	25
16	2	238232751	A	-C	ENST00000472056	ENSG00000163359	238232646	238323018	ENSP00000418285	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	rs200357374	-	-	-	-	-	-	het	25
17	2	238232751	A	-C	ENST00000473258	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.5327_5327del	p.C1776NA	non-syn	rs200357374	-	-	-	-	-	-	het	25
18	2	238232751	A	-C	ENST00000491769	ENSG00000163359	238232646	238323018	-	COL6A3	-1	-	c.6641_6641del	p.C2214NA	non-syn	rs200357374	-	-	-	-	-	-	het	25
19	2	238232752	C	+A	ENST00000295550	ENSG00000163359	238232646	238323018	ENSP00000295550	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	2	238232752	C	A	ENST00000295550	ENSG00000163359	238232646	238323018	ENSP00000295550	COL6A3	-1	CO6A3_HUMAN	-	-	3'_UTR	rs1050785	-	-	-	-	-	-	het	16

** 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 COL6A3 2:238232646..238323018 region Gbrowse