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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 OPA3:

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
ENSG00000125741	OPA3	1	311	14	ENSG00000125741	ENST00000323060	ENSP00000319817	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:8142]	19	46030685	46105470	-1	q13.32	46030685	46088100	OPA3	OPA3-001	HGNC Symbol	HGNC transcript name	3	49.78	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	80207	8142	OPA3	NM_001017989	27526

MSeqDR Master Exome Data Set M1: 46 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	46030879	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs61267572	0.2769	-	-	-	-	-	hom	4
2	19	46030879	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs61267572	0.2769	-	-	-	-	-	het	35
3	19	46030951	G	T	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs116046357	0.0665	-	-	-	-	-	het	1
4	19	46030952	C	T	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs116329407	0.0671	-	-	-	-	-	het	1
5	19	46031016	G	A	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	46031606	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs7259834	0.9629	-	-	-	-	-	hom	2
7	19	46032124	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs73568948	0.1079	-	-	-	-	-	het	15
8	19	46032124	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs73568948	0.1079	-	-	-	-	-	hom	2
9	19	46032128	A	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	19	46032248	T	C	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs185891858	0.0035	-	-	-	-	-	het	1
11	19	46032403	G	A	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	c.454C>T	p.L152L	syn	NA	-	A=2/G=8492;A=0/G=4360;A=2/G=12852	lod=28:325	-	-	-	het	1
12	19	46032425	C	A	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	c.432G>T	p.S144S	syn	NA	-	-	-	-	-	-	het	1
13	19	46032673	C	T	ENST00000323060	ENSG00000125741	46030685	46105470	ENSP00000319817	OPA3	-1	OPA3_HUMAN	c.184G>A	p.G62S	non-syn	rs140959406	0.0034	T=0/C=8592;T=37/C=4363;T=37/C=12955	lod=228:549	DAMAGING	D	-	het	1
14	19	46049982	A	G	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs10422253	0.7222	-	-	-	-	-	hom	2
15	19	46051247	G	A	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs117230006	0.1129	-	-	-	-	-	het	1
16	19	46052898	C	T	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs62109650	0.2608	-	-	-	-	-	het	1
17	19	46055477	G	+T	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs80059629	-	-	-	-	-	-	het	1
18	19	46055785	A	-T	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	rs34303121	-	-	-	-	-	-	het	8
19	19	46056092	C	A	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	19	46056617	T	G	ENST00000263275	ENSG00000125741	46030685	46105470	ENSP00000263275	OPA3	-1	OPA3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4

** 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**,
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Transcripts and variants in the surrounding OPA3 19:46030685..46105470 region Gbrowse