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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 LPL:

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
ENSG00000175445	LPL	0	0	36	ENSG00000175445	ENST00000520959	ENSP00000428496	lipoprotein lipase [Source:HGNC Symbol;Acc:6677]	8	19759228	19824769	1	p21.3	19759228	19811662	LPL	LPL-006	HGNC Symbol	HGNC transcript name	7	40.01	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	4023	6677	LPL		27523

MSeqDR Master Exome Data Set M1: 108 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	8	19796570	G	A	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	7
2	8	19796570	G	A	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	8	19796656	A	T	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	NA	-	-	lod=319:585	-	-	-	het	2
4	8	19796669	G	T	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	rs80351041	0.01068	-	lod=319:585	-	-	-	het	8
5	8	19796671	T	G	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	rs1800590	0.3201	-	lod=319:585	-	-	Lower plasma triglyceride level, association with	hom	7
6	8	19796671	T	G	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	rs1800590	0.3201	-	lod=319:585	-	-	Lower plasma triglyceride level, association with	het	50
7	8	19796711	G	C	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	NA	-	-	lod=319:585	-	-	HGMD	het	3
8	8	19796776	T	+CC	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	rs146978295	-	-	-	-	-	-	het	1
9	8	19796776	T	+CC	ENST00000519773	ENSG00000175445	19759228	19824769	ENSP00000431028	LPL	1	-	-	-	5'_UTR	rs146978295	-	-	-	-	-	-	het	1
10	8	19796776	T	+CC	ENST00000521994	ENSG00000175445	19759228	19824769	-	LPL	1	-	c.10_11insCC	p.S4NA	non-syn	rs146978295	-	-	-	-	-	-	het	1
11	8	19796776	T	+CC	ENST00000522701	ENSG00000175445	19759228	19824769	ENSP00000428557	LPL	1	-	-	-	5'_UTR	rs146978295	-	-	-	-	-	-	het	1
12	8	19796787	C	T	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	rs190484854	0.0015	-	-	-	-	-	het	1
13	8	19796787	C	T	ENST00000519773	ENSG00000175445	19759228	19824769	ENSP00000431028	LPL	1	-	-	-	5'_UTR	rs190484854	0.0015	-	-	-	-	-	het	1
14	8	19796787	C	T	ENST00000521994	ENSG00000175445	19759228	19824769	-	LPL	1	-	c.21C>T	p.S7S	syn	rs190484854	0.0015	-	-	-	-	-	het	1
15	8	19796787	C	T	ENST00000522701	ENSG00000175445	19759228	19824769	ENSP00000428557	LPL	1	-	-	-	5'_UTR	rs190484854	0.0015	-	-	-	-	-	het	1
16	8	19796787	C	T	ENST00000524029	ENSG00000175445	19759228	19824769	ENSP00000428237	LPL	1	-	-	-	-12bp 3'_splice_site	rs190484854	0.0015	-	-	-	-	-	het	1
17	8	19796885	C	-CTCCGGCTCAG	ENST00000311322	ENSG00000175445	19759228	19824769	ENSP00000309757	LPL	1	LIPL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	8	19796885	C	-CTCCGGCTCAG	ENST00000519773	ENSG00000175445	19759228	19824769	ENSP00000431028	LPL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	8	19796885	C	-CTCCGGCTCAG	ENST00000521994	ENSG00000175445	19759228	19824769	-	LPL	1	-	c.120_130del	p.A40NA	non-syn	NA	-	-	-	-	-	-	het	1
20	8	19796885	C	-CTCCGGCTCAG	ENST00000522701	ENSG00000175445	19759228	19824769	ENSP00000428557	LPL	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding LPL 8:19759228..19824769 region Gbrowse