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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 DLD:

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
ENSG00000091140	DLD	1	118	38	ENSG00000091140	ENST00000205402	ENSP00000205402	dihydrolipoamide dehydrogenase [Source:HGNC Symbol;Acc:2898]	7	107531415	107572175	1	q31.1	107531415	107561648	DLD	DLD-001	HGNC Symbol	HGNC transcript name	14	36.67	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1738	2898	DLD	NM_000108	27506

MSeqDR Master Exome Data Set M1: 237 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	7	107531681	A	C	ENST00000205402	ENSG00000091140	107531415	107572175	ENSP00000205402	DLD	1	DLDH_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	7	107531681	A	C	ENST00000415325	ENSG00000091140	107531415	107572175	ENSP00000402593	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	7	107531681	A	C	ENST00000417551	ENSG00000091140	107531415	107572175	ENSP00000390667	DLD	1	DLDH_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	7	107531681	A	C	ENST00000437604	ENSG00000091140	107531415	107572175	ENSP00000387542	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	7	107531681	A	C	ENST00000440410	ENSG00000091140	107531415	107572175	ENSP00000417016	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	7	107531681	A	C	ENST00000450038	ENSG00000091140	107531415	107572175	ENSP00000409590	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	7	107531681	A	C	ENST00000451081	ENSG00000091140	107531415	107572175	ENSP00000388077	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	7	107531681	A	C	ENST00000453354	ENSG00000091140	107531415	107572175	-	DLD	1	-	c.51A>C	p.E17D	non-syn	NA	-	-	-	-	-	-	het	1
9	7	107531681	A	C	ENST00000460577	ENSG00000091140	107531415	107572175	-	DLD	1	-	c.20A>C	p.K7T	non-syn	NA	-	-	-	-	-	-	het	1
10	7	107531681	A	C	ENST00000485066	ENSG00000091140	107531415	107572175	-	DLD	1	-	c.75A>C	p.E25D	non-syn	NA	-	-	-	-	-	-	het	1
11	7	107531681	A	C	ENST00000537148	ENSG00000091140	107531415	107572175	ENSP00000442399	DLD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	7	107531725	C	A	ENST00000205402	ENSG00000091140	107531415	107572175	ENSP00000205402	DLD	1	DLDH_HUMAN	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
13	7	107531725	C	A	ENST00000415325	ENSG00000091140	107531415	107572175	ENSP00000402593	DLD	1	-	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
14	7	107531725	C	A	ENST00000417551	ENSG00000091140	107531415	107572175	ENSP00000390667	DLD	1	DLDH_HUMAN	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
15	7	107531725	C	A	ENST00000437604	ENSG00000091140	107531415	107572175	ENSP00000387542	DLD	1	-	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
16	7	107531725	C	A	ENST00000440410	ENSG00000091140	107531415	107572175	ENSP00000417016	DLD	1	-	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
17	7	107531725	C	A	ENST00000450038	ENSG00000091140	107531415	107572175	ENSP00000409590	DLD	1	-	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
18	7	107531725	C	A	ENST00000451081	ENSG00000091140	107531415	107572175	ENSP00000388077	DLD	1	-	c.30C>A	p.S10S	syn	NA	-	-	lod=138:496	-	-	-	het	3
19	7	107531725	C	A	ENST00000453354	ENSG00000091140	107531415	107572175	-	DLD	1	-	c.95C>A	p.P32H	non-syn	NA	-	-	lod=138:496	-	-	-	het	3
20	7	107531725	C	A	ENST00000460577	ENSG00000091140	107531415	107572175	-	DLD	1	-	c.64C>A	p.L22I	non-syn	NA	-	-	lod=138:496	-	-	-	het	3

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding DLD 7:107531415..107572175 region Gbrowse