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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 RYR1:

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
ENSG00000196218	RYR1	1	0	634	ENSG00000196218	ENST00000355481	ENSP00000347667	ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]	19	38924339	39078204	1	q13.2	38924339	39078204	RYR1	RYR1-001	HGNC Symbol	HGNC transcript name	11	52.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6261	10483	RYR1	NM_000540	27526

MSeqDR Master Exome Data Set M1: 1106 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	38924362	T	C	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	rs4632259	0.1308	-	-	-	-	-	het	8
2	19	38924362	T	C	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	rs4632259	0.1308	-	-	-	-	-	hom	1
3	19	38924362	T	C	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	rs4632259	0.1308	-	-	-	-	-	het	8
4	19	38924362	T	C	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	rs4632259	0.1308	-	-	-	-	-	hom	1
5	19	38924395	C	-AG	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=59:405	-	-	-	het	1
6	19	38924395	C	-AG	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=59:405	-	-	-	het	1
7	19	38924439	C	T	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	NA	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	-	-	-	-	het	1
8	19	38924439	C	T	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	-	-	5'_UTR	NA	-	T=3/C=8597;T=0/C=4406;T=3/C=13003	-	-	-	-	het	1
9	19	38924526	T	-G	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	lod=168:517	-	-	-	het	1
10	19	38924526	T	-G	ENST00000359596	ENSG00000196218	38924339	39078204	ENSP00000352608	RYR1	1	RYR1_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	lod=168:517	-	-	-	het	1
11	19	38924526	T	-G	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	lod=168:517	-	-	-	het	1
12	19	38931433	C	T	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	c.94C>T	p.L32F	non-syn	rs138630815	0.0066	T=0/C=8588;T=12/C=4384;T=12/C=12972	lod=538:641	TOLERATED	B	-	het	1
13	19	38931433	C	T	ENST00000359596	ENSG00000196218	38924339	39078204	ENSP00000352608	RYR1	1	RYR1_HUMAN	c.94C>T	p.L32F	non-syn	rs138630815	0.0066	T=0/C=8588;T=12/C=4384;T=12/C=12972	lod=538:641	TOLERATED	B	-	het	1
14	19	38931433	C	T	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	c.94C>T	p.L32F	non-syn	rs138630815	0.0066	T=0/C=8588;T=12/C=4384;T=12/C=12972	lod=538:641	TOLERATED	B	-	het	1
15	19	38933000	C	T	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	c.177C>T	p.P59P	syn	rs201938317	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=227:549	-	-	-	het	2
16	19	38933000	C	T	ENST00000359596	ENSG00000196218	38924339	39078204	ENSP00000352608	RYR1	1	RYR1_HUMAN	c.177C>T	p.P59P	syn	rs201938317	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=227:549	-	-	-	het	2
17	19	38933000	C	T	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	c.177C>T	p.P59P	syn	rs201938317	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=227:549	-	-	-	het	2
18	19	38933039	G	T	ENST00000355481	ENSG00000196218	38924339	39078204	ENSP00000347667	RYR1	1	RYR1_HUMAN	c.216G>T	p.L72L	syn	rs113389877	0.0191	T=0/G=8600;T=33/G=4373;T=33/G=12973	lod=28:325	-	-	-	het	1
19	19	38933039	G	T	ENST00000359596	ENSG00000196218	38924339	39078204	ENSP00000352608	RYR1	1	RYR1_HUMAN	c.216G>T	p.L72L	syn	rs113389877	0.0191	T=0/G=8600;T=33/G=4373;T=33/G=12973	lod=28:325	-	-	-	het	1
20	19	38933039	G	T	ENST00000360985	ENSG00000196218	38924339	39078204	ENSP00000354254	RYR1	1	RYR1_HUMAN	c.216G>T	p.L72L	syn	rs113389877	0.0191	T=0/G=8600;T=33/G=4373;T=33/G=12973	lod=28:325	-	-	-	het	1

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Transcripts and variants in the surrounding RYR1 19:38924339..39078204 region Gbrowse