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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 DST:

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
ENSG00000151914	DST	0	0	3	ENSG00000151914	ENST00000521821		dystonin [Source:HGNC Symbol;Acc:1090]	6	56322785	56819426	-1	p12.1	56535286	56707944	DST	DST-021	HGNC Symbol	HGNC transcript name	37	38.07	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	667	1090	DST		27515

MSeqDR Master Exome Data Set M1: 2430 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	6	56322891	T	C	ENST00000244364	ENSG00000151914	56322785	56819426	ENSP00000244364	DST	-1	DYST_HUMAN	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
2	6	56322891	T	C	ENST00000244364	ENSG00000151914	56322785	56819426	ENSP00000244364	DST	-1	DYST_HUMAN	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
3	6	56322891	T	C	ENST00000312431	ENSG00000151914	56322785	56819426	ENSP00000307959	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
4	6	56322891	T	C	ENST00000312431	ENSG00000151914	56322785	56819426	ENSP00000307959	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
5	6	56322891	T	C	ENST00000370754	ENSG00000151914	56322785	56819426	ENSP00000359790	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
6	6	56322891	T	C	ENST00000370754	ENSG00000151914	56322785	56819426	ENSP00000359790	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
7	6	56322891	T	C	ENST00000370769	ENSG00000151914	56322785	56819426	ENSP00000359805	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
8	6	56322891	T	C	ENST00000370769	ENSG00000151914	56322785	56819426	ENSP00000359805	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
9	6	56322891	T	C	ENST00000370788	ENSG00000151914	56322785	56819426	ENSP00000359824	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
10	6	56322891	T	C	ENST00000370788	ENSG00000151914	56322785	56819426	ENSP00000359824	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
11	6	56322891	T	C	ENST00000421834	ENSG00000151914	56322785	56819426	ENSP00000400883	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
12	6	56322891	T	C	ENST00000421834	ENSG00000151914	56322785	56819426	ENSP00000400883	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
13	6	56322891	T	C	ENST00000446842	ENSG00000151914	56322785	56819426	ENSP00000393645	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
14	6	56322891	T	C	ENST00000446842	ENSG00000151914	56322785	56819426	ENSP00000393645	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
15	6	56322891	T	C	ENST00000523292	ENSG00000151914	56322785	56819426	ENSP00000431020	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	het	7
16	6	56322891	T	C	ENST00000523292	ENSG00000151914	56322785	56819426	ENSP00000431020	DST	-1	-	-	-	3'_UTR	rs183822595	0.0011	-	lod=1345:739	-	-	-	hom	1
17	6	56322892	A	G	ENST00000244364	ENSG00000151914	56322785	56819426	ENSP00000244364	DST	-1	DYST_HUMAN	-	-	3'_UTR	NA	-	-	lod=1345:739	-	-	-	het	2
18	6	56322892	A	G	ENST00000312431	ENSG00000151914	56322785	56819426	ENSP00000307959	DST	-1	-	-	-	3'_UTR	NA	-	-	lod=1345:739	-	-	-	het	2
19	6	56322892	A	G	ENST00000370754	ENSG00000151914	56322785	56819426	ENSP00000359790	DST	-1	-	-	-	3'_UTR	NA	-	-	lod=1345:739	-	-	-	het	2
20	6	56322892	A	G	ENST00000370769	ENSG00000151914	56322785	56819426	ENSP00000359805	DST	-1	-	-	-	3'_UTR	NA	-	-	lod=1345:739	-	-	-	het	2

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Transcripts and variants in the surrounding DST 6:56322785..56819426 region Gbrowse