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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 D2HGDH:

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
ENSG00000180902	D2HGDH	1	4	39	ENSG00000180902	ENST00000496252		D-2-hydroxyglutarate dehydrogenase [Source:HGNC Symbol;Acc:28358]	2	242673994	242708231	1	q37.3	242688251	242690804	D2HGDH	D2HGDH-014	HGNC Symbol	HGNC transcript name	18	56.88	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	728294	28358	D2HGDH		27508

MSeqDR Master Exome Data Set M1: 759 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	242673998	G	-C	ENST00000321264	ENSG00000180902	242673994	242708231	ENSP00000315351	D2HGDH	1	D2HDH_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	2	242673998	G	-C	ENST00000537090	ENSG00000180902	242673994	242708231	ENSP00000442796	D2HGDH	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	2	242674104	A	G	ENST00000321264	ENSG00000180902	242673994	242708231	ENSP00000315351	D2HGDH	1	D2HDH_HUMAN	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
4	2	242674104	A	G	ENST00000342518	ENSG00000180902	242673994	242708231	ENSP00000339536	D2HGDH	1	-	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
5	2	242674104	A	G	ENST00000400769	ENSG00000180902	242673994	242708231	ENSP00000383580	D2HGDH	1	-	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
6	2	242674104	A	G	ENST00000403782	ENSG00000180902	242673994	242708231	ENSP00000384723	D2HGDH	1	-	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
7	2	242674104	A	G	ENST00000436747	ENSG00000180902	242673994	242708231	ENSP00000400212	D2HGDH	1	-	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
8	2	242674104	A	G	ENST00000537090	ENSG00000180902	242673994	242708231	ENSP00000442796	D2HGDH	1	-	-	-	5'_UTR	rs7370843	0.5851	-	-	-	-	-	het	1
9	2	242674549	C	G	ENST00000321264	ENSG00000180902	242673994	242708231	ENSP00000315351	D2HGDH	1	D2HDH_HUMAN	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	het	33
10	2	242674549	C	G	ENST00000321264	ENSG00000180902	242673994	242708231	ENSP00000315351	D2HGDH	1	D2HDH_HUMAN	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	hom	5
11	2	242674549	C	G	ENST00000342518	ENSG00000180902	242673994	242708231	ENSP00000339536	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	het	33
12	2	242674549	C	G	ENST00000342518	ENSG00000180902	242673994	242708231	ENSP00000339536	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	hom	5
13	2	242674549	C	G	ENST00000400769	ENSG00000180902	242673994	242708231	ENSP00000383580	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	het	33
14	2	242674549	C	G	ENST00000400769	ENSG00000180902	242673994	242708231	ENSP00000383580	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	hom	5
15	2	242674549	C	G	ENST00000436747	ENSG00000180902	242673994	242708231	ENSP00000400212	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	het	33
16	2	242674549	C	G	ENST00000436747	ENSG00000180902	242673994	242708231	ENSP00000400212	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	hom	5
17	2	242674549	C	G	ENST00000463932	ENSG00000180902	242673994	242708231	-	D2HGDH	1	-	c.3C>G	p.G1G	syn	rs62191976	0.0738	-	-	-	-	-	het	33
18	2	242674549	C	G	ENST00000463932	ENSG00000180902	242673994	242708231	-	D2HGDH	1	-	c.3C>G	p.G1G	syn	rs62191976	0.0738	-	-	-	-	-	hom	5
19	2	242674549	C	G	ENST00000537090	ENSG00000180902	242673994	242708231	ENSP00000442796	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	het	33
20	2	242674549	C	G	ENST00000537090	ENSG00000180902	242673994	242708231	ENSP00000442796	D2HGDH	1	-	-	-	5'_UTR	rs62191976	0.0738	-	-	-	-	-	hom	5

** 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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Transcripts and variants in the surrounding D2HGDH 2:242673994..242708231 region Gbrowse