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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 LDLR:

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
ENSG00000130164	LDLR	1	2	301	ENSG00000130164	ENST00000558518	ENSP00000454071	low density lipoprotein receptor [Source:HGNC Symbol;Acc:6547]	19	11200038	11244492	1	p13.2	11200038	11242839	LDLR	LDLR-003	HGNC Symbol	HGNC transcript name	14	51.08	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3949	6547	LDLR	NM_001195798	27526

MSeqDR Master Exome Data Set M1: 528 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	19	11200145	T	C	ENST00000455727	ENSG00000130164	11200038	11244492	ENSP00000397829	LDLR	1	LDLR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	19	11200145	T	C	ENST00000535915	ENSG00000130164	11200038	11244492	ENSP00000440520	LDLR	1	LDLR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	19	11200145	T	C	ENST00000545707	ENSG00000130164	11200038	11244492	ENSP00000437639	LDLR	1	LDLR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	19	11200145	T	C	ENST00000557933	ENSG00000130164	11200038	11244492	ENSP00000453557	LDLR	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	19	11200145	T	C	ENST00000557958	ENSG00000130164	11200038	11244492	-	LDLR	1	-	c.7T>C	p.S3P	non-syn	NA	-	-	-	-	-	-	het	1
6	19	11200145	T	C	ENST00000558518	ENSG00000130164	11200038	11244492	ENSP00000454071	LDLR	1	LDLR_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	19	11200145	T	C	ENST00000560502	ENSG00000130164	11200038	11244492	-	LDLR	1	-	c.7T>C	p.S3P	non-syn	NA	-	-	-	-	-	-	het	1
8	19	11200282	G	A	ENST00000455727	ENSG00000130164	11200038	11244492	ENSP00000397829	LDLR	1	LDLR_HUMAN	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
9	19	11200282	G	A	ENST00000535915	ENSG00000130164	11200038	11244492	ENSP00000440520	LDLR	1	LDLR_HUMAN	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
10	19	11200282	G	A	ENST00000545707	ENSG00000130164	11200038	11244492	ENSP00000437639	LDLR	1	LDLR_HUMAN	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
11	19	11200282	G	A	ENST00000557933	ENSG00000130164	11200038	11244492	ENSP00000453557	LDLR	1	-	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
12	19	11200282	G	A	ENST00000557958	ENSG00000130164	11200038	11244492	-	LDLR	1	-	c.144G>A	p.R48R	syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
13	19	11200282	G	A	ENST00000558013	ENSG00000130164	11200038	11244492	ENSP00000453346	LDLR	1	LDLR_HUMAN	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
14	19	11200282	G	A	ENST00000558518	ENSG00000130164	11200038	11244492	ENSP00000454071	LDLR	1	LDLR_HUMAN	c.58G>A	p.G20R	non-syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
15	19	11200282	G	A	ENST00000560502	ENSG00000130164	11200038	11244492	-	LDLR	1	-	c.144G>A	p.R48R	syn	rs147509697	-	A=9/G=8587;A=0/G=4402;A=9/G=12989	-	DAMAGING	B	HGMD	het	3
16	19	11200309	C	A	ENST00000455727	ENSG00000130164	11200038	11244492	ENSP00000397829	LDLR	1	LDLR_HUMAN	-	-	+18bp 5'_splice_site	rs17242759	0.0353	A=1/C=8579;A=190/C=4200;A=191/C=12779	-	-	-	-	het	1
17	19	11200309	C	A	ENST00000535915	ENSG00000130164	11200038	11244492	ENSP00000440520	LDLR	1	LDLR_HUMAN	-	-	+18bp 5'_splice_site	rs17242759	0.0353	A=1/C=8579;A=190/C=4200;A=191/C=12779	-	-	-	-	het	1
18	19	11200309	C	A	ENST00000545707	ENSG00000130164	11200038	11244492	ENSP00000437639	LDLR	1	LDLR_HUMAN	-	-	+18bp 5'_splice_site	rs17242759	0.0353	A=1/C=8579;A=190/C=4200;A=191/C=12779	-	-	-	-	het	1
19	19	11200309	C	A	ENST00000557933	ENSG00000130164	11200038	11244492	ENSP00000453557	LDLR	1	-	-	-	+18bp 5'_splice_site	rs17242759	0.0353	A=1/C=8579;A=190/C=4200;A=191/C=12779	-	-	-	-	het	1
20	19	11200309	C	A	ENST00000557958	ENSG00000130164	11200038	11244492	-	LDLR	1	-	-	-	+18bp 5'_splice_site	rs17242759	0.0353	A=1/C=8579;A=190/C=4200;A=191/C=12779	-	-	-	-	het	1

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Transcripts and variants in the surrounding LDLR 19:11200038..11244492 region Gbrowse