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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 ENSG00000205138:

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
ENSG00000205138	SDHAF1	1	28	7	ENSG00000205138	ENST00000378887	ENSP00000368165	succinate dehydrogenase complex assembly factor 1 [Source:HGNC Symbol;Acc:33867]	19	36486090	36487220	1	q13.12	36486090	36487220	SDHAF1	SDHAF1-001	HGNC Symbol	HGNC transcript name	1	63.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	644096	33867	SDHAF1	NM_001042631	27526

MSeqDR Master Exome Data Set M1: 7 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	36486091	T	G	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	19	36486445	G	C	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	c.269G>C	p.C90S	non-syn	rs7249826	0.9981	-	-	TOLERATED	B	-	hom	728
3	19	36486485	C	T	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	c.309C>T	p.D103D	syn	NA	-	-	-	-	-	-	het	1
4	19	36486509	C	G	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	c.333C>G	p.R111R	syn	rs76336581	0.0484	G=249/C=7165;G=134/C=3692;G=383/C=10857	-	-	-	-	het	67
5	19	36486509	C	G	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	c.333C>G	p.R111R	syn	rs76336581	0.0484	G=249/C=7165;G=134/C=3692;G=383/C=10857	-	-	-	-	hom	1
6	19	36486679	G	A	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	19	36486680	G	T	ENST00000378887	ENSG00000205138	36486090	36487220	ENSP00000368165	SDHAF1	1	SDHF1_HUMAN	-	-	3'_UTR	rs115204084	0.0512	-	-	-	-	-	het	2

** 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 SDHAF1 19:36486090..36487220 region Gbrowse