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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 SDHA:

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
ENSG00000073578	SDHA	1	1786	66	ENSG00000073578	ENST00000514233		succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [Source:HGNC Symbol;Acc:10680]	5	218356	256815	1	p15.33	227741	233744	SDHA	SDHA-013	HGNC Symbol	HGNC transcript name	19	46.07	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	6389	10680	SDHA		27527

MSeqDR Master Exome Data Set M1: 593 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	5	218356	T	C	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	-	-	5'_UTR	rs2303741	0.435	-	-	-	-	-	het	99
2	5	218356	T	C	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	-	-	5'_UTR	rs2303741	0.435	-	-	-	-	-	hom	16
3	5	218381	T	+C	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	-	-	5'_UTR	rs3214561	-	-	-	-	-	-	het	108
4	5	218381	T	+C	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	-	-	5'_UTR	rs3214561	-	-	-	-	-	-	hom	14
5	5	220433	T	+G	ENST00000509632	ENSG00000073578	218356	256815	ENSP00000425077	SDHA	1	-	c.142_143insG	p.W48NA	non-syn	rs113175962	-	-	-	-	-	-	het	48
6	5	220433	T	+G	ENST00000509632	ENSG00000073578	218356	256815	ENSP00000425077	SDHA	1	-	c.142_143insG	p.W48NA	non-syn	rs113175962	-	-	-	-	-	-	hom	5
7	5	223646	A	T	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	c.113A>T	p.D38V	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
8	5	223646	A	T	ENST00000502379	ENSG00000073578	218356	256815	-	SDHA	1	-	c.158A>T	p.D53V	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
9	5	223646	A	T	ENST00000504309	ENSG00000073578	218356	256815	ENSP00000426514	SDHA	1	-	c.113A>T	p.D38V	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
10	5	223646	A	T	ENST00000504824	ENSG00000073578	218356	256815	-	SDHA	1	-	c.98A>T	p.D33V	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
11	5	223646	A	T	ENST00000505555	ENSG00000073578	218356	256815	-	SDHA	1	-	c.153A>T	p.*51C	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
12	5	223646	A	T	ENST00000509632	ENSG00000073578	218356	256815	ENSP00000425077	SDHA	1	-	c.211A>T	p.M71L	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
13	5	223646	A	T	ENST00000510361	ENSG00000073578	218356	256815	ENSP00000427703	SDHA	1	-	c.113A>T	p.D38V	non-syn	rs34635677	0.02372	T=392/A=8208;T=35/A=4371;T=427/A=12579	-	TOLERATED	B	-	het	66
14	5	223685	T	+A	ENST00000264932	ENSG00000073578	218356	256815	ENSP00000264932	SDHA	1	DHSA_HUMAN	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
15	5	223685	T	+A	ENST00000502379	ENSG00000073578	218356	256815	-	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
16	5	223685	T	+A	ENST00000504309	ENSG00000073578	218356	256815	ENSP00000426514	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
17	5	223685	T	+A	ENST00000504824	ENSG00000073578	218356	256815	-	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
18	5	223685	T	+A	ENST00000505555	ENSG00000073578	218356	256815	-	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
19	5	223685	T	+A	ENST00000509632	ENSG00000073578	218356	256815	ENSP00000425077	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19
20	5	223685	T	+A	ENST00000510361	ENSG00000073578	218356	256815	ENSP00000427703	SDHA	1	-	-	-	+2bp 5'_splice_site	NA	-	-	lod=26:317	-	-	-	het	19

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding SDHA 5:218356..256815 region Gbrowse