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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 VHL:

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
ENSG00000134086	VHL	0	0	222	ENSG00000134086	ENST00000256474	ENSP00000256474	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:12687]	3	10182692	10193904	1	p25.3	10182692	10193904	VHL	VHL-001	HGNC Symbol	HGNC transcript name	3	47.55	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7428	12687	VHL	NM_000551	27517

MSeqDR Master Exome Data Set M1: 136 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	10182884	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	3	10182893	C	G	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	3	10183002	G	C	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs10433558	0.4952	-	-	-	-	-	hom	66
4	3	10183002	G	C	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs10433558	0.4952	-	-	-	-	-	het	245
5	3	10183167	G	C	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	3	10183186	G	A	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	3	10183241	C	+AAA	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	25
8	3	10183241	C	+AA	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	336
9	3	10183241	C	+A	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	275
10	3	10183273	G	C	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	3	10183274	C	G	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	269
12	3	10183274	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs779804	0.8377	-	-	-	-	-	het	414
13	3	10183274	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs779804	0.8377	-	-	-	-	-	hom	218
14	3	10183301	A	G	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs140811053	0.0011	-	-	-	-	-	het	1
15	3	10183337	G	A	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs779805	0.6573	-	-	-	-	-	het	256
16	3	10183337	G	A	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs779805	0.6573	-	-	-	-	-	hom	309
17	3	10183455	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	rs3087462	0.0675	-	-	-	-	-	het	7
18	3	10183459	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	3	10183466	C	+TCCGCCCCGCG	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	3	10183522	C	T	ENST00000256474	ENSG00000134086	10182692	10193904	ENSP00000256474	VHL	1	VHL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding VHL 3:10182692..10193904 region Gbrowse