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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 Exome Dataset

HBCR annotation for m.8993T>G: This variant is real-time annotated by OneStopVariant Tool as below:

The variant(s) at this m.8993T>G location:

This variant is not found in MSeqDR M1 exome data set!

EVS ESP6500 Exome Dataset
m.8993T>G

This variant m.8993T>G is not found in EVS exome data!

MSeqDR Data Summary for the Term ..:

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
ENSG00000198899	MT-ATP6	1	365	12	ENSG00000198899	ENST00000361899	ENSP00000354632	mitochondrially encoded ATP synthase 6 [Source:HGNC Symbol;Acc:7414]	M	8527	9207	1		8527	9207	MT-ATP6	MT-ATP6-201	HGNC Symbol	HGNC transcript name	1	44.2	protein_coding	protein_coding	insdc	insdc	KNOWN	KNOWN	4508	7414	MT-ATP6		100965601

MSeqDR Master Exome Data Set M1: 94 entries from same gene m.8993T>G

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	8527	A	G	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.1A>G	p.M1V	non-syn	NA	-	-	lod=108:470	-	-	-	hom	7
2	M	8546	C	T	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.20C>T	p.A7V	non-syn	NA	-	-	lod=108:470	-	-	-	hom	2
3	M	8557	G	A	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.31G>A	p.A11T	non-syn	NA	-	-	-	-	-	-	het	1
4	M	8557	G	A	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.31G>A	p.A11T	non-syn	NA	-	-	-	-	-	-	hom	12
5	M	8557	G	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.31G>C	p.A11P	non-syn	NA	-	-	-	-	-	-	het	1
6	M	8559	C	T	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.33C>T	p.A11A	syn	NA	-	-	-	-	-	-	hom	1
7	M	8566	A	G	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.40A>G	p.I14V	non-syn	rs3020563	-	-	-	-	-	-	hom	8
8	M	8566	A	G	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.40A>G	p.I14V	non-syn	rs3020563	-	-	-	-	-	-	het	1
9	M	8567	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.41T>C	p.I14T	non-syn	NA	-	-	-	-	-	-	hom	1
10	M	8584	G	A	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.58G>A	p.A20T	non-syn	rs3135028	-	-	-	-	-	-	het	1
11	M	8584	G	A	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.58G>A	p.A20T	non-syn	rs3135028	-	-	-	-	-	-	hom	17
12	M	8598	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.72T>C	p.I24I	syn	NA	-	-	-	-	-	-	hom	2
13	M	8602	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.76T>C	p.F26L	non-syn	NA	-	-	-	-	-	-	hom	1
14	M	8610	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.84T>C	p.P28P	syn	rs113798969	-	-	-	-	-	-	hom	1
15	M	8614	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.88T>C	p.L30L	syn	NA	-	-	-	-	-	-	hom	4
16	M	8634	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.108T>C	p.T36T	syn	NA	-	-	-	-	-	-	hom	2
17	M	8639	T	C	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.113T>C	p.I38T	non-syn	NA	-	-	-	-	-	-	hom	1
18	M	8649	A	G	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.123A>G	p.R41R	syn	NA	-	-	lod=24:309	-	-	-	hom	1
19	M	8655	C	T	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.129C>T	p.I43I	syn	rs112660509	-	-	-	-	-	-	hom	3
20	M	8658	C	T	ENST00000361899	ENSG00000198899	8527	9207	ENSP00000354632	MT-ATP6	1	ATP6_HUMAN	c.132C>T	p.T44T	syn	NA	-	-	-	-	-	-	hom	1

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding MT-ATP6 M:8527..9207 region Gbrowse