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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 ENSG00000204370:

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
ENSG00000204370	SDHD	1	16	60	ENSG00000204370	ENST00000375549	ENSP00000364699	succinate dehydrogenase complex, subunit D, integral membrane protein [Source:HGNC Symbol;Acc:10683]	11	111957497	111990353	1	q23.1	111957497	111966518	SDHD	SDHD-001	HGNC Symbol	HGNC transcript name	8	41.7	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6392	10683	SDHD	NM_003002	27504

MSeqDR Master Exome Data Set M1: 163 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	11	111957513	C	T	ENST00000375549	ENSG00000204370	111957497	111990353	ENSP00000364699	SDHD	1	DHSD_HUMAN	-	-	5'_UTR	rs148364534	0.0202	-	-	-	-	-	het	4
2	11	111957530	A	G	ENST00000375549	ENSG00000204370	111957497	111990353	ENSP00000364699	SDHD	1	DHSD_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	11	111957665	G	A	ENST00000375549	ENSG00000204370	111957497	111990353	ENSP00000364699	SDHD	1	DHSD_HUMAN	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
4	11	111957665	G	A	ENST00000375549	ENSG00000204370	111957497	111990353	ENSP00000364699	SDHD	1	DHSD_HUMAN	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
5	11	111957665	G	A	ENST00000525291	ENSG00000204370	111957497	111990353	ENSP00000436669	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
6	11	111957665	G	A	ENST00000525291	ENSG00000204370	111957497	111990353	ENSP00000436669	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
7	11	111957665	G	A	ENST00000526592	ENSG00000204370	111957497	111990353	ENSP00000432005	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
8	11	111957665	G	A	ENST00000526592	ENSG00000204370	111957497	111990353	ENSP00000432005	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
9	11	111957665	G	A	ENST00000528021	ENSG00000204370	111957497	111990353	ENSP00000432465	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
10	11	111957665	G	A	ENST00000528021	ENSG00000204370	111957497	111990353	ENSP00000432465	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
11	11	111957665	G	A	ENST00000528048	ENSG00000204370	111957497	111990353	ENSP00000436217	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
12	11	111957665	G	A	ENST00000528048	ENSG00000204370	111957497	111990353	ENSP00000436217	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
13	11	111957665	G	A	ENST00000528182	ENSG00000204370	111957497	111990353	ENSP00000435475	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
14	11	111957665	G	A	ENST00000528182	ENSG00000204370	111957497	111990353	ENSP00000435475	SDHD	1	-	c.34G>A	p.G12S	non-syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
15	11	111957665	G	A	ENST00000530923	ENSG00000204370	111957497	111990353	ENSP00000432946	SDHD	1	-	c.24G>A	p.A8A	syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	hom	1
16	11	111957665	G	A	ENST00000530923	ENSG00000204370	111957497	111990353	ENSP00000432946	SDHD	1	-	c.24G>A	p.A8A	syn	rs28937576	0.0141	A=96/G=8498;A=7/G=4395;A=103/G=12893	-	TOLERATED	B	HGMD	het	24
17	11	111958581	C	T	ENST00000375549	ENSG00000204370	111957497	111990353	ENSP00000364699	SDHD	1	DHSD_HUMAN	c.53C>T	p.A18V	non-syn	rs192332761	0.0009	-	lod=32:340	TOLERATED	B	-	het	1
18	11	111958581	C	T	ENST00000526592	ENSG00000204370	111957497	111990353	ENSP00000432005	SDHD	1	-	c.53C>T	p.A18V	non-syn	rs192332761	0.0009	-	lod=32:340	TOLERATED	B	-	het	1
19	11	111958581	C	T	ENST00000528021	ENSG00000204370	111957497	111990353	ENSP00000432465	SDHD	1	-	c.53C>T	p.A18V	non-syn	rs192332761	0.0009	-	lod=32:340	TOLERATED	B	-	het	1
20	11	111958581	C	T	ENST00000528048	ENSG00000204370	111957497	111990353	ENSP00000436217	SDHD	1	-	c.53C>T	p.A18V	non-syn	rs192332761	0.0009	-	lod=32:340	TOLERATED	B	-	het	1

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Transcripts and variants in the surrounding SDHD 11:111957497..111990353 region Gbrowse