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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 CRLS1:

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
ENSG00000088766	CRLS1	1	0	0	ENSG00000088766	ENST00000378863	ENSP00000368140	cardiolipin synthase 1 [Source:HGNC Symbol;Acc:16148]	20	5986736	6020699	1	p12.3	5986736	6020699	CRLS1	CRLS1-001	HGNC Symbol	HGNC transcript name	7	39.37	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54675	16148	CRLS1	NM_019095	27522

MSeqDR Master Exome Data Set M1: 168 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	20	5986749	T	C	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	5'_UTR	rs2257015	0.9819	-	-	-	-	-	het	24
2	20	5986749	T	C	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	5'_UTR	rs2257015	0.9819	-	-	-	-	-	hom	635
3	20	5986828	G	A	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	11
4	20	5986828	G	A	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	11
5	20	5986843	A	G	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	20	5986843	A	G	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	20	5986950	G	A	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	c.58G>A	p.A20T	non-syn	rs6085343	0.1401	-	-	TOLERATED	B	-	het	147
8	20	5986950	G	A	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	c.58G>A	p.A20T	non-syn	rs6085343	0.1401	-	-	TOLERATED	B	-	hom	38
9	20	5986950	G	A	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	c.58G>A	p.A20T	non-syn	rs6085343	0.1401	-	-	TOLERATED	B	-	het	147
10	20	5986950	G	A	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	c.58G>A	p.A20T	non-syn	rs6085343	0.1401	-	-	TOLERATED	B	-	hom	38
11	20	5986989	G	A	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	c.97G>A	p.A33T	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
12	20	5986989	G	A	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	c.97G>A	p.A33T	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
13	20	5987015	C	T	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	c.123C>T	p.C41C	syn	NA	-	-	-	-	-	-	het	2
14	20	5987015	C	T	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	c.123C>T	p.C41C	syn	NA	-	-	-	-	-	-	het	2
15	20	5987212	A	-GGC	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	+14bp 5'_splice_site	rs149662716	-	-	-	-	-	-	het	81
16	20	5987212	A	-GGC	ENST00000378863	ENSG00000088766	5986736	6020699	ENSP00000368140	CRLS1	1	CRLS1_HUMAN	-	-	+14bp 5'_splice_site	rs149662716	-	-	-	-	-	-	hom	8
17	20	5987212	A	-GGC	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	-	-	+14bp 5'_splice_site	rs149662716	-	-	-	-	-	-	het	81
18	20	5987212	A	-GGC	ENST00000452938	ENSG00000088766	5986736	6020699	ENSP00000416770	CRLS1	1	-	-	-	+14bp 5'_splice_site	rs149662716	-	-	-	-	-	-	hom	8
19	20	5988051	C	G	ENST00000378868	ENSG00000088766	5986736	6020699	ENSP00000368145	CRLS1	1	CRLS1_HUMAN	c.4C>G	p.P2A	non-syn	NA	-	-	lod=224:548	DAMAGING	-	-	het	1
20	20	6011882	G	T	ENST00000478846	ENSG00000088766	5986736	6020699	-	CRLS1	1	-	c.74G>T	p.*25L	non-syn	rs2423132	1	-	-	-	-	-	hom	594

** 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.

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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 CRLS1 20:5986736..6020699 region Gbrowse