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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 PDE6H:

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
ENSG00000139053	PDE6H	0	0	1	ENSG00000139053	ENST00000266395	ENSP00000266395	phosphodiesterase 6H, cGMP-specific, cone, gamma [Source:HGNC Symbol;Acc:8790]	12	15125956	15134799	1	p12.3	15125956	15134799	PDE6H	PDE6H-001	HGNC Symbol	HGNC transcript name	1	39.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5149	8790	PDE6H	NM_006205	27519

MSeqDR Master Exome Data Set M1: 7 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	12	15130918	G	C	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	-	-	5'_UTR	rs114575851	0.0539	C=1/G=8599;C=122/G=4284;C=123/G=12883	-	-	-	HGMD	het	3
2	12	15132130	C	T	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.152C>T	p.P51L	non-syn	NA	-	-	lod=282:572	DAMAGING	D	-	het	1
3	12	15134334	A	G	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.176A>G	p.D59G	non-syn	rs201547440	-	-	lod=61:409	DAMAGING	D	-	het	2
4	12	15134353	A	G	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.195A>G	p.P65P	syn	rs2230872	0.2109	G=309/A=8291;G=573/A=3833;G=882/A=12124	lod=327:588	-	-	-	het	122
5	12	15134353	A	G	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.195A>G	p.P65P	syn	rs2230872	0.2109	G=309/A=8291;G=573/A=3833;G=882/A=12124	lod=327:588	-	-	-	hom	6
6	12	15134386	G	A	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.228G>A	p.E76E	syn	NA	-	-	lod=327:588	-	-	-	het	2
7	12	15134390	G	T	ENST00000266395	ENSG00000139053	15125956	15134799	ENSP00000266395	PDE6H	1	CNCG_HUMAN	c.232G>T	p.A78S	non-syn	rs199740819	-	T=2/G=8598;T=0/G=4406;T=2/G=13004	lod=327:588	DAMAGING	D	-	het	5

** 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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding PDE6H 12:15125956..15134799 region Gbrowse