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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 COX19:

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
ENSG00000240230	COX19	1	0	0	ENSG00000240230	ENST00000457254	ENSP00000413423	cytochrome c oxidase assembly homolog 19 (S. cerevisiae) [Source:HGNC Symbol;Acc:28074]	7	938415	1015235	-1	p22.3	938415	1015185	COX19	COX19-002	HGNC Symbol	HGNC transcript name	4	58.98	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	90639	28074	COX19		27506

MSeqDR Master Exome Data Set M1: 156 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	7	938432	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs4407767	0.0226	-	lod=17:272	-	-	-	het	26
2	7	938432	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs4407767	0.0226	-	lod=17:272	-	-	-	hom	1
3	7	938479	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
4	7	938479	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
5	7	938497	C	G	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	7	938502	G	C	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	C=0/G=3182;C=34/G=1350;C=34/G=4532	-	-	-	-	het	1
7	7	938522	G	+T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	7	938550	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs79448819	0.0137	T=0/C=8586;T=95/C=4305;T=95/C=12891	-	-	-	-	het	1
9	7	938664	C	A	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	+6bp 5'_splice_site	rs184864985	0.0017	A=29/C=8567;A=1/C=4401;A=30/C=12968	lod=188:529	-	-	-	het	3
10	7	938664	C	A	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	+6bp 5'_splice_site	rs184864985	0.0017	A=29/C=8567;A=1/C=4401;A=30/C=12968	lod=188:529	-	-	-	hom	1
11	7	938704	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	NA	-	-	lod=188:529	-	-	-	het	1
12	7	938827	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs141725888	-	T=2/C=8568;T=0/C=4402;T=2/C=12970	lod=32:340	-	-	-	het	1
13	7	938845	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs61995731	0.0589	T=4/C=8576;T=410/C=3992;T=414/C=12568	lod=143:500	-	-	-	het	11
14	7	938848	G	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs201399137	-	-	lod=143:500	TOLERATED	NA	-	het	2
15	7	939048	C	G	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	+8bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	7	939086	G	A	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs61742845	0.032	A=2/G=8596;A=186/G=4220;A=188/G=12816	lod=321:586	-	-	-	het	3
17	7	939122	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs117710032	0.0049	T=31/C=8565;T=7/C=4399;T=38/C=12964	lod=51:389	-	-	-	het	8
18	7	939145	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	-18bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
19	7	939724	G	A	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	+15bp 5'_splice_site	rs147598930	0.0147	A=99/G=8501;A=9/G=4397;A=108/G=12898	-	-	-	-	het	18
20	7	940181	C	T	ENST00000457254	ENSG00000240230	938415	1015235	ENSP00000413423	COX19	-1	-	-	-	3'_UTR	rs10256887	0.8626	T=7274/C=1314;T=4094/C=296;T=11368/C=1610	-	TOLERATED	B	-	het	202

** 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 COX19 7:938415..1015235 region Gbrowse