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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 IDUA:

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
ENSG00000127415	IDUA	0	0	51	ENSG00000127415	ENST00000247933	ENSP00000247933	iduronidase, alpha-L- [Source:HGNC Symbol;Acc:5391]	4	980785	998316	1	p16.3	980785	998294	IDUA	IDUA-001	HGNC Symbol	HGNC transcript name	13	65.39	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3425	5391	IDUA	NM_000203	27524

MSeqDR Master Exome Data Set M1: 436 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	4	980894	G	A	ENST00000247933	ENSG00000127415	980785	998316	ENSP00000247933	IDUA	1	IDUA_HUMAN	c.22G>A	p.A8T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
2	4	980894	G	A	ENST00000453894	ENSG00000127415	980785	998316	ENSP00000396458	IDUA	1	-	c.22G>A	p.A8T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
3	4	980894	G	A	ENST00000502910	ENSG00000127415	980785	998316	ENSP00000422952	IDUA	1	-	c.22G>A	p.A8T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
4	4	980894	G	A	ENST00000504568	ENSG00000127415	980785	998316	ENSP00000424847	IDUA	1	-	c.20G>A	p.R7H	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
5	4	980894	G	A	ENST00000506561	ENSG00000127415	980785	998316	-	IDUA	1	-	c.31G>A	p.A11T	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
6	4	980894	G	A	ENST00000508168	ENSG00000127415	980785	998316	-	IDUA	1	-	c.41G>A	p.R14H	non-syn	NA	-	-	-	DAMAGING	NA	-	het	2
7	4	980894	G	A	ENST00000514698	ENSG00000127415	980785	998316	-	IDUA	1	-	c.63G>A	p.A21A	syn	NA	-	-	-	DAMAGING	NA	-	het	2
8	4	980896	C	A	ENST00000247933	ENSG00000127415	980785	998316	ENSP00000247933	IDUA	1	IDUA_HUMAN	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
9	4	980896	C	A	ENST00000247933	ENSG00000127415	980785	998316	ENSP00000247933	IDUA	1	IDUA_HUMAN	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
10	4	980896	C	A	ENST00000453894	ENSG00000127415	980785	998316	ENSP00000396458	IDUA	1	-	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
11	4	980896	C	A	ENST00000453894	ENSG00000127415	980785	998316	ENSP00000396458	IDUA	1	-	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
12	4	980896	C	A	ENST00000502910	ENSG00000127415	980785	998316	ENSP00000422952	IDUA	1	-	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
13	4	980896	C	A	ENST00000502910	ENSG00000127415	980785	998316	ENSP00000422952	IDUA	1	-	c.24C>A	p.A8A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
14	4	980896	C	A	ENST00000504568	ENSG00000127415	980785	998316	ENSP00000424847	IDUA	1	-	c.22C>A	p.R8S	non-syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
15	4	980896	C	A	ENST00000504568	ENSG00000127415	980785	998316	ENSP00000424847	IDUA	1	-	c.22C>A	p.R8S	non-syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
16	4	980896	C	A	ENST00000506561	ENSG00000127415	980785	998316	-	IDUA	1	-	c.33C>A	p.A11A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
17	4	980896	C	A	ENST00000506561	ENSG00000127415	980785	998316	-	IDUA	1	-	c.33C>A	p.A11A	syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
18	4	980896	C	A	ENST00000508168	ENSG00000127415	980785	998316	-	IDUA	1	-	c.43C>A	p.R15S	non-syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263
19	4	980896	C	A	ENST00000508168	ENSG00000127415	980785	998316	-	IDUA	1	-	c.43C>A	p.R15S	non-syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	hom	122
20	4	980896	C	A	ENST00000514698	ENSG00000127415	980785	998316	-	IDUA	1	-	c.65C>A	p.P22Q	non-syn	rs11248061	0.4246	A=1728/C=2640;A=659/C=1391;A=2387/C=4031	-	-	-	-	het	263

** 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 IDUA 4:980785..998316 region Gbrowse