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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 M:1-1000:

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
ENSG00000210049	MT-TF	1	52	7	ENSG00000210049	ENST00000387314		mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]	M	577	647	1		577	647	MT-TF	MT-TF-201	HGNC Symbol	HGNC transcript name	1	40.85	Mt_tRNA	Mt_tRNA	insdc	insdc	KNOWN	KNOWN	4558	7481	MT-TF		100965601
ENSG00000211459	MT-RNR1	1	349	49	ENSG00000211459	ENST00000389680		mitochondrially encoded 12S RNA [Source:HGNC Symbol;Acc:7470]	M	648	1601	1		648	1601	MT-RNR1	MT-RNR1-201	HGNC Symbol	HGNC transcript name	1	45.49	Mt_rRNA	Mt_rRNA	insdc	insdc	KNOWN	KNOWN	4549	7470	MT-RNR1		100965601

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MSeqDR Master Exome Data Set M1: 52 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	M	648	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.1A>G	-	-	NA	-	-	lod=140:497	-	-	-	hom	1
2	M	663	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.16A>G	-	-	rs3937039	-	-	lod=140:497	-	-	-	hom	21
3	M	686	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.39A>G	-	-	rs78880991	-	-	-	-	-	-	hom	2
4	M	709	G	A	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.62G>A	-	-	rs2853517	-	-	lod=107:469	-	-	-	het	1
5	M	709	G	A	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.62G>A	-	-	rs2853517	-	-	lod=107:469	-	-	-	hom	128
6	M	710	T	C	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.63T>C	-	-	rs28358568	-	-	lod=107:469	-	-	-	hom	2
7	M	710	T	C	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.63T>C	-	-	rs28358568	-	-	lod=107:469	-	-	-	het	1
8	M	721	T	C	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.74T>C	-	-	NA	-	-	-	-	-	-	hom	2
9	M	722	C	T	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.75C>T	-	-	NA	-	-	lod=38:358	-	-	-	hom	1
10	M	723	A	C	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.76A>C	-	-	NA	-	-	lod=38:358	-	-	-	hom	3
11	M	745	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.98A>G	-	-	NA	-	-	-	-	-	-	hom	1
12	M	750	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.103A>G	-	-	rs112547485	-	-	lod=32:340	-	-	-	hom	927
13	M	769	G	A	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.122G>A	-	-	rs111347407	-	-	lod=68:420	-	-	-	hom	26
14	M	813	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.166A>G	-	-	rs77267909	-	-	lod=138:496	-	-	-	hom	2
15	M	825	T	A	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.178T>A	-	-	rs111410691	-	-	lod=86:445	-	-	-	het	1
16	M	825	T	A	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.178T>A	-	-	rs111410691	-	-	lod=86:445	-	-	-	hom	10
17	M	827	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.180A>G	-	-	rs113842757	-	-	lod=86:445	-	-	-	hom	22
18	M	896	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.249A>G	-	-	NA	-	-	lod=299:578	-	-	-	hom	1
19	M	921	T	C	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.274T>C	-	-	rs28358570	-	-	lod=299:578	-	-	-	hom	3
20	M	928	A	G	ENST00000389680	ENSG00000211459	648	1601	-	MT-RNR1	1	-	c.281A>G	-	-	NA	-	-	lod=15:259	-	-	-	hom	2

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Transcripts and variants in the surrounding MT-RNR1 M:648..1601 region Gbrowse